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Sample records for scalded skin syndrome

  1. Staphylococcal scalded skin syndrome: diagnosis and management in children and adults.

    Science.gov (United States)

    Handler, M Z; Schwartz, R A

    2014-11-01

    Staphylococcal scalded skin syndrome is a potentially life-threatening disorder caused most often by a phage group II Staphylococcus aureus infection. Staphylococcal scalded skin syndrome is more common in newborns than in adults. Staphylococcal scalded skin syndrome tends to appear abruptly with diffuse erythema and fever. The diagnosis can be confirmed by a skin biopsy specimen, which can be expedited by frozen section processing, as staphylococcal scalded skin syndrome should be distinguished from life threatening toxic epidermal necrolysis. Histologically, the superficial epidermis is detached, the separation level being at the granular layer. The diffuse skin loss is due to a circulating bacterial exotoxin. The aetiological exfoliating toxin is a serine protease that splits only desmoglein 1. The exfoliative toxins are spread haematogenously from a localized source of infection, causing widespread epidermal damage at distant sites. Sepsis and pneumonia are the most feared complications. The purpose of this review is to summarize advances in understanding of this serious disorder and provide therapeutic options for both paediatric and adult patients. Recent epidemiological studies have demonstrated that paediatric patients have an increased incidence of Staphylococcal scalded skin syndrome during the summer and autumn. Mortality is less than 10% in children, but is between 40% and 63% in adults, despite antibacterial therapy. Previously, intravenous immunoglobulin had been recommended to combat Staphylococcal scalded skin syndrome, but a recent study associates its use with prolonged hospitalization. © 2014 European Academy of Dermatology and Venereology.

  2. Recurring staphylococcal scalded skin syndrome in a very low birth weight infant: A case report

    NARCIS (Netherlands)

    C.E. Duijsters; F.J.J. Halbertsma (Feico); R.F. Kornelisse (René); N.L.A. Arents (Niek); P. Andriessen (Peter)

    2009-01-01

    textabstractIntroduction. Staphylococcal scalded skin syndrome is an extensive desquamative erythematous condition caused by exfoliative toxins of Staphylococcus aureus. This disease usually affects neonates and generally responds rapidly to antibiotic therapy. Case presentation. We describe the

  3. Regional outbreak of staphylococcal scalded skin syndrome in healthy children

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    Hyun Jeong Do

    2010-01-01

    Full Text Available Purpose : Staphylococcal scalded skin syndrome (SSSS is a relatively uncommon superficial blistering skin disease that is due to Staphylococcus aureus. We had experienced a regional outbreak of SSSS over 3 years in healthy children. Methods : We retrospectively reviewed the medical records of those patients diagnosed as SSSS. Most of neonatal cases were nosocomial infections and excluded from the analysis. The clinical features, laboratory findings, the isolation and antibiotic resistance of S. aureus, the antibiotic management and other supportive treatments were analyzed. Results : Fifty-five patients with SSSS were admitted to our hospital from October 2001 to September 2004. The median age of patients was 3.0 years. Of the 55 patients, 9 were the generalized type, 13 were the intermediate type and 33 were the scarletiniform rash. All the patients were living in neighborhood of the Jinju area. S. aureus were isolated from 9 of the patients and all of the isolated S. aureus were methicillin resistant. All the patients except two were treated with intravenous flocloxacillin or nafcillin and/or cefotaxime. All the patients recovered during the follow-up period of 2 to 3 weeks. Conclusion : We experienced a regional outbreak of SSSS in previous healthy children. Further study for finding the carriers of S. aureus caused SSSS and preventing the spread of this disease is needed. Additionally, guidelines for treating SSSS due to methicillin resistant S. aureus should be established.

  4. Neonatal staphylococcal scalded skin syndrome: clinical and outbreak containment review.

    LENUS (Irish Health Repository)

    Neylon, Orla

    2012-01-31

    Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated exfoliating skin condition predominated by desquamation and blistering. Neonatal outbreaks have already been reported; however, our outbreak highlights the potential for SSSS following neonatal health promotion measures such as intra-muscular vitamin K administration and metabolic screening (heel prick) as well as effective case containment measures and the value of staff screening. Between February and June 2007, five confirmed cases of neonatal SSSS were identified in full-term neonates born in an Irish regional maternity hospital. All infants were treated successfully. Analysis of contact and environmental screening was undertaken, including family members and healthcare workers. Molecular typing on isolates was carried out. An outbreak control team (OCT) was assembled and took successful prospective steps to prevent further cases. All five Staphylococcus aureus isolates tested positive for exfoliative toxin A, of which two distinct strains were identified on pulsed-field gel electrophoresis analysis. Two cases followed staphylococcal inoculation during preventive measures such as intra-muscular vitamin K administration and metabolic screening (heel prick). None of the neonatal isolates were methicillin resistant. Of 259 hospital staff (70% of staff) screened, 30% were colonised with S. aureus, and 6% were positive for MRSA carriage. This is the first reported outbreak of neonatal SSSS in Ireland. Effective case containment measures and clinical value of OCT is demonstrated. Results of staff screening underlines the need for vigilance and compliance in hand disinfection strategies in maternity hospitals especially during neonatal screening and preventive procedures.

  5. Staphylococcal Scalded Skin Syndrome in Child. A Case Report and a Review from Literature

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    Grama Alina

    2016-10-01

    Full Text Available Staphylococcal scalded skin syndrome (SSSS is the medical term used to define a skin condition induced by the exfoliative toxins produced by Staphylococcus aureus. The disorder is also known as Ritter disease, bullous impetigo, neonatal pemphigus, or staphylococcal scarlet fever. The disease especially affects infants and small children, but has also been described in adults. Prompt therapy with proper antibiotics and supportive treatment has led to a decrease in the mortality rate.

  6. Staphylococcal scalded skin syndrome in a premature newborn caused by methicillin-resistant Staphylococcus aureus: case report

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    Andreas Hörner

    Full Text Available CONTEXT: Staphylococcal scalded skin syndrome is an exfoliative skin disease. Reports of this syndrome in newborns caused by methicillin-resistant Staphylococcus aureus are rare but, when present, rapid diagnosis and treatment is required in order to decrease morbidity and mortality. CASE REPORT: A premature newly born girl weighing 1,520 g, born with a gestational age of 29 weeks and 4 days, developed staphylococcal scalded skin syndrome on the fifth day of life. Cultures on blood samples collected on the first and fourth days were negative, but Pseudomonas aeruginosa and Enterococcus sp. (vancomycin-sensitive developed in blood cultures performed on the day of death (seventh day, and Pseudomonas aeruginosa and Serratia marcescens were identified in cultures on nasopharyngeal, buttock and abdominal secretions. In addition to these two Gram-negative bacilli, methicillin-resistant Staphylococcus aureus was isolated in a culture on the umbilical stump (seventh day. The diagnosis of staphylococcal scalded skin syndrome was based on clinical criteria.

  7. Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome

    Science.gov (United States)

    Hanakawa, Yasushi; Schechter, Norman M.; Lin, Chenyan; Garza, Luis; Li, Hong; Yamaguchi, Takayuki; Fudaba, Yasuyuki; Nishifuji, Koji; Sugai, Motoyuki; Amagai, Masayuki; Stanley, John R.

    2002-01-01

    Bullous impetigo due to Staphylococcus aureus is one of the most common bacterial infections of man, and its generalized form, staphylococcal scalded skin syndrome (SSSS), is a frequent manifestation of staphylococcal epidemics in neonatal nurseries. Both diseases are mediated by exfoliative toxins (ETs), which show exquisite pathologic specificity in blistering only the superficial epidermis. We show that these toxins act as serine proteases with extremely focused molecular specificity to cleave mouse and human desmoglein 1 (Dsg1) once after glutamic acid residue 381 between extracellular domains 3 and 4. Mutation of the predicted catalytically active serine to alanine completely inhibits cleavage. The mutated ETs bind specifically to Dsg1 by immunofluorescence colocalization and by coimmunoprecipitation. Thus, ETs, through specific recognition and proteolytic cleavage of one structurally critical peptide bond in an adhesion molecule, cause its dysfunction and allow S. aureus to spread under the stratum corneum, the main barrier of the skin, explaining how, although they circulate through the entire body in SSSS, they cause pathology only in the superficial epidermis. PMID:12093888

  8. STAPHYLOCOCCAL SCALDED SKIN SYNDROME MIMICKING TOXIC EPIDERMAL NECROLYSIS IN A HEALTHY ADULT

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    Tomoko Oishi

    2013-07-01

    Full Text Available Introduction: Staphylococcal scaled skin syndrome (SSSS presents generalized form bullous impetigo caused by Staphylococcus aureus (S. aureus infection, typically seen in infants and children. SSSS may occur also in adults; however, the majority of adult cases are those with immunosuppression. Atypical clinical features of impetigo in adults sometimes make it difficult to diagnose correctly. Case Report: A 74-year-old healthy woman was hospitalized, complaining of extensive desquamative erythema and a number of erosions. She was administered oral antiviral drugs under suspicion of herpes zoster prior to 10 days. Initial diagnosis on the admission was toxic epidermal necrolysis (TEN due to antiviral tablets; however, steroid pulse therapy resulted in no effect. Bacterial culture yielded coagulase-positive methicillin-resistent S. aureus, producing exfoliative toxin B. A biopsy specimen showed subcorneal splitting of the epidermis. The diffuse erosions gradually improved over 10 days by the treatment with intravenous antibiotics. Conclusions: The differentiation between streptococcal scaled skin syndrome (SSSS and TEN is sometimes difficult. It is important to remind SSSS when we suspect TEN, even in healthy adults..

  9. Rapid containment of nosocomial transmission of a rare community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) clone, responsible for the Staphylococcal Scalded Skin Syndrome (SSSS).

    Science.gov (United States)

    Lamanna, Onofrio; Bongiorno, Dafne; Bertoncello, Lisa; Grandesso, Stefano; Mazzucato, Sandra; Pozzan, Giovanni Battista; Cutrone, Mario; Chirico, Michela; Baesso, Flavia; Brugnaro, Pierluigi; Cafiso, Viviana; Stefani, Stefania; Campanile, Floriana

    2017-01-06

    The aims of this study were to identify the source and the transmission pathway for a Staphylococcal Scalded Skin Syndrome (SSSS) outbreak in a maternity setting in Italy over 2 months, during 2014; to implement appropriate control measures in order to prevent the epidemic spread within the maternity ward; and to identify the Methicillin-Resistant Staphylococcus aureus (MRSA) epidemic clone. Epidemiological and microbiological investigations, based on phenotyping and genotyping methods, were performed. All neonates involved in the outbreak underwent clinical and microbiological investigations to detect the cause of illness. Parents and healthcare workers were screened for Staphylococcus aureus to identify asymptomatic carriers. The SSSS outbreak was due to the cross-transmission of a rare clone of ST5-CA-MRSA-SCCmecV-spa type t311, exfoliative toxin A-producer, isolated from three neonates, one mother (from her nose and from dermatological lesions due to pre-existing hand eczema) and from a nurse (colonized in her nose by this microorganism). The epidemiological and microbiological investigation confirmed these as two potential carriers. A rapid containment of these infections was obtained only after implementation of robust swabbing of mothers and healthcare workers. The use of molecular methodologies for typing was able to identify all carriers and to trace the transmission.

  10. Antimicrobial Agent of Susceptibilities and Antiseptic Resistance Gene Distribution among Methicillin-Resistant Staphylococcus aureus Isolates from Patients with Impetigo and Staphylococcal Scalded Skin Syndrome

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    Noguchi, Norihisa; Nakaminami, Hidemasa; Nishijima, Setsuko; Kurokawa, Ichiro; So, Hiromu; Sasatsu, Masanori

    2006-01-01

    The susceptibilities to antimicrobial agents of and distributions of antiseptic resistance genes in methicillin-resistant Staphylococcus aureus (MRSA) strains isolated between 1999 and 2004 in Japan were examined. The data of MRSA strains that are causative agents of impetigo and staphylococcal scalded skin syndrome (SSSS) were compared with those of MRSA strains isolated from patients with other diseases. The susceptibilities to antiseptic agents in MRSA isolates from patients with impetigo and SSSS were higher than those in MRSA isolates from patients with other diseases. The distribution of the qacA/B genes in MRSA strains isolated from patients with impetigo and SSSS (1.3%, 1/76) was remarkably lower than that in MRSA strains isolated from patients with other diseases (45.9%, 95/207). Epidemiologic typings of staphylococcal cassette chromosome mec (SCCmec) and pulsed-field gel electrophoresis (PFGE) showed that MRSA strains isolated from patients with impetigo and SSSS had type IV SCCmec (75/76), except for one strain, and 64.5% (49/76) of the strains had different PFGE types. In addition, the patterns of restriction digestion of all tested qacA/B plasmid in MRSA isolates having different PFGE types were identical. The results showed that a specific MRSA clone carrying qacA/B was not prevalent, but qacA/B was spread among health care-associated MRSA strains. Therefore, it was concluded that the lower distribution rate of qacA/B resulted in higher susceptibilities to cationic antiseptic agents in MRSA isolated from patients with impetigo and SSSS. PMID:16757607

  11. Skin regeneration in deep second-degree scald injuries either by infusion pumping or topical application of recombinant human erythropoietin gel

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    Giri P

    2015-05-01

    Full Text Available Priya Giri,1 Sabine Ebert,1 Ulf-Dietrich Braumann,2 Mathias Kremer,3 Shibashish Giri,1 Hans-Günther Machens,4 Augustinus Bader1 1Department of Cell Techniques and Applied Stem Cell Biology, Center for Biotechnology and Biomedicine (BBZ, Faculty of Medicine, University of Leipzig, Leipzig, Germany; 2Interdisciplinary Center for Bioinformatics (IZBI, University of Leipzig, Leipzig, Germany; 3Department of Plastic and Hand Surgery, University of Lübeck, Lübeck, Germany; 4Department of Plastic and Hand Surgery, Technical University of Munich, Munich, Germany Abstract: Large doses of recombinant growth factors formulated in solution form directly injected into the body is usual clinical practice in treating second-degree scald injuries, with promising results, but this approach creates side effects; furthermore, it may not allow appropriate levels of the factor to be sensed by the target injured tissue/organ in the specific time frame, owing to complications arising from regeneration. In this research, two delivery methods (infusion pumping and local topical application were applied to deliver recombinant human erythropoietin (rHuEPO for skin regeneration. First, rHuEPO was given in deep second-degree scald injury sites in mice by infusion pump. Vascularization was remarkably higher in the rHuEPO pumping group than in controls. Second, local topical application of rHuEPO gel was given in deep second-degree scald injury sites in rats. Histological analysis showed that epithelialization rate was significantly higher in the rHuEPO gel-treated group than in controls. Immunohistochemical studies showed that the rHuEPO gel-treated group showed remarkably higher expression of skin regeneration makers than the control group. An accurate method for visualization and quantification of blood vessel networks in target areas has still not been developed up to this point, because of technical difficulties in detecting such thin blood vessels. A method which

  12. New biological temporary skin cover Xe-Derma(®) in the treatment of superficial scald burns in children.

    Science.gov (United States)

    Zajicek, Robert; Matouskova, Eva; Broz, Ludomir; Kubok, Richard; Waldauf, Petr; Königova, Radana

    2011-03-01

    Xe-Derma® is a new dry sterile biological cover derived from acellular pig dermis. Hydrated Xe-Derma® displays bio-mechanical features similar to the normal skin. The aim of the present study was to compare the efficacy of Xe-Derma® with hydrocolloid dressing Askina THINSite® for treatment of superficial burns in children in a prospective study. In a prospective study, 86 patients (5 months to 7 years of age) with superficial scald burns on a surface area of 1-35% BSA were enrolled. In the course of the study, 43 patients were treated with Xe-Derma® and 43 patients with Askina THINSite®. We collected data including the percentage of BSA covered with biological or synthetic material, epithelization time, the number of complete conversions (deepening of 100% of covered area into deep dermal wound) under each cover, the number and extent of partial conversions (deepening of less then 100% of covered area into deep dermal wound), infectious complications, the number of reapplications of the temporary cover and the extent in square centimetres of dressing material needed for successful healing of 1% BSA. No significant difference in the epithelization time, percentage of conversion from superficial to deep dermal burns and percentage of infectious complication was detected between the two groups. However, patients in the Xe-Derma® group were burned on a more extensive burn surface area (p ≤ 0.028). Xe-Derma® showed adherence to the wound and therefore there has been no need to be changed The number of reapplications and therefore also the number of square centimetres needed for successful healing of 1% BSA were statistically higher in the Askina THINSite® group (p burns in children. Copyright © 2010 Elsevier Ltd and ISBI. All rights reserved.

  13. In vitro construction of tissue engineered skin for wound repair after escharectomy of third degree scald: An experimental study

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    Zhong-feng MA

    2016-01-01

    Full Text Available Objective  To observe the practicability and effect of tissue engineered skin for repairing the wound after escharectomy of third degree scald (TDSE in rat model. Methods  Epithelial cells and fibroblasts from newborn SD rats were isolated by enzyme digestion method and cultured in vitro, and porcine acellular dermal matrix (PADM without cytotoxicity was prepared by hyperosmotic saline/sodium hydroxide method. The fibroblasts were mixed with bovine type Ⅰ collagen and inoculated on the surface of PADM. Third passage of cultured epidermal cells from newborn SD rats were inoculated on the collagen surface of the dermal matrix to obtain tissue engineered skin, and it was used to prepare epidermal cell sheet. Forty-eight SD rats with TDSE wound were randomly divided into two groups, then tissue engineered skin (experiment group, and epidermal cell sheet (control group graftings were performed to cover the wounds respectively. Finally, gross observation and histological changes were observed in grafted area. The wound healing rate and wound contraction rate were compared between the two groups. Microvessel count (MVC was performed with antiCD34 monoclonal antibody immunohistochemical staining technique, and vascular endothelial cells were labeled. Basal membrane of the skin was identified by immunohistochemical anti-Laminin staining technique. Results  There was no obvious sign of acute rejection of the graft in both groups. The graft survival rate was 75.05%±3.69%, 83.12%±3.13% and 92.03%±3.87% at the 2th, 4th and 6th week respectively in the experimental group. The graft survival rate was 77.63%±3.23%, 83.17%±3.92% and 91.09%±3.35% at the 2th, 4th and 6th week in the control group. There was no significant difference between the two groups (P>0.05, but the contraction rate of the grafts was 9.13%±2.27%, 18.52%±3.40%, 23.92%±3.01% at the 2th, 4th, 6th week, respectively, in the experimental group, and 14.21%±3.05%, 29.12%±3

  14. APPLICATION OF THE HACCP METHOD IN THE SWINE ABATTOIR BY SCALDING-SKINNING ECOLOGICAL PROCESSING / APPLICATION DE LA METHODE HACCP DANS L’ABATTOIR PORCIN PAR LE PROCESSUS ECOLOGIQUE D’ÉCHAUDAGE-DÉPEÇAGE

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    IULIAN SUCEVEANU

    2017-03-01

    Full Text Available In the food industry development, the food safety and the valorization of by-products represent important aspects. The present study consists in the application of the Hazard Analysis and Critical Control Point (HACCP method in pig slaughterhouses for scalding-skinning technology in order to ensure the conformity of meat quality and the by-products management and recycling. In order to optimize the scalding-skinning process of swine, all the classical technological steps of the technological processes were analyzed separately and globally, with the adaptation of the HACCP method for the new technology. The result of this study shows that the implementation of the new technology that combines existing technologies has many advantages from both an economic and a technological point of view. At the same time the new technology ensures food safety by taking account of the application of the food safety system, respectively, HACCP method.

  15. Shengfu Oil Enhances the Healing of Full-Thickness Scalded Skin Accompanying the Differential Regulation of β-Catenin, Dlk1, and COX-2.

    Science.gov (United States)

    Chen, Man-Tang; Yang, Yan-Jing; Li, Yu-Sang; Li, Xiao-Jun; Zhang, Wei K; Wang, Jin-Ping; Wang, Xu; Tian, Gui-Hua; Tang, He-Bin

    2017-01-01

    Shengfu oil is a traditional Chinese medicine formula containing 16 ingredients, including Scutellariae radix, Olibanum, and Rehmanniae radix. In this study, we aimed to enhance the wound healing of rabbit full-thickness scalded skin by Shengfu oil and to elucidate its regulatory effects on β-catenin, Dlk1, and COX-2. We found that Shengfu oil exhibited significant anti-inflammatory, analgesic, and antimicrobial activities. The structure of wound tissues in Shengfu oil group was intact, including regenerated cutaneous appendages, indicating better healing capability of Shengfu oil compared to the controls. The protein expression of β-catenin, Dlk1, and COX-2 in wound tissues were investigated by immunohistochemistry staining and were further quantitated with the use of multispectral imaging analysis. The protein expression of β-catenin and Dlk1 in the Shengfu oil group was higher than that in the sesame oil group in early wound repair, accompanied by the lower expression of COX-2; the protein expression of β-catenin decreased in the middle of wound healing; the protein expression of β-catenin and Dlk1 increased at the end of wound healing. These results strongly suggest that Shengfu oil can enhance wound healing by regulating the expression of β-catenin, Dlk1, and COX-2 due to its excellent anti-inflammatory, analgesic, and antimicrobial activities.

  16. Shengfu Oil Enhances the Healing of Full-Thickness Scalded Skin Accompanying the Differential Regulation of β-Catenin, Dlk1, and COX-2

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    Man-Tang Chen

    2017-11-01

    Full Text Available Shengfu oil is a traditional Chinese medicine formula containing 16 ingredients, including Scutellariae radix, Olibanum, and Rehmanniae radix. In this study, we aimed to enhance the wound healing of rabbit full-thickness scalded skin by Shengfu oil and to elucidate its regulatory effects on β-catenin, Dlk1, and COX-2. We found that Shengfu oil exhibited significant anti-inflammatory, analgesic, and antimicrobial activities. The structure of wound tissues in Shengfu oil group was intact, including regenerated cutaneous appendages, indicating better healing capability of Shengfu oil compared to the controls. The protein expression of β-catenin, Dlk1, and COX-2 in wound tissues were investigated by immunohistochemistry staining and were further quantitated with the use of multispectral imaging analysis. The protein expression of β-catenin and Dlk1 in the Shengfu oil group was higher than that in the sesame oil group in early wound repair, accompanied by the lower expression of COX-2; the protein expression of β-catenin decreased in the middle of wound healing; the protein expression of β-catenin and Dlk1 increased at the end of wound healing. These results strongly suggest that Shengfu oil can enhance wound healing by regulating the expression of β-catenin, Dlk1, and COX-2 due to its excellent anti-inflammatory, analgesic, and antimicrobial activities.

  17. Skin Findings in Williams Syndrome

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    Kozel, Beth A.; Bayliss, Susan J.; Berk, David R.; Waxler, Jessica L; Knutsen, Russell H.; Danback, Joshua R.; Pober, Barbara R.

    2014-01-01

    Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the Skin and Vascular Elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%) and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity) and E (Young’s modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue. PMID:24920525

  18. Ectodermal Dysplasia Skin Fragility Syndrome

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    Ayça Alan Atalay

    2014-06-01

    Full Text Available Ectodermal dysplasia-skin fragility syndrome (EDSFS is a rare autosomal recessive genodermatosis first described in 1997 by Mc Grath. EDSFS results from loss of function mutations in plakophilin-1 (PKP1. PKP1 is a structural component of desmosomes, cellcell adhesion complexes. It is also found as a nuclear protein in several cell types that are lack of desmosomes. In skin, however, PKP1 expression is confined mainly to suprabasal keratinocytes and the outer root sheath of hair follicules. Loss of function mutation in PKP1 leads to extensive skin fragility, bullae and erosions following minor trauma, focal keratoderma with painful fissures, alopecia, and nail dystrophy. In some patients hypohidrosis may also be seen. EDSFS is now considered as a specific suprabasal form of epidermolysis bullosa simplex. In this report we describe a 20 year old EDSFS case.

  19. Pediatric sink-bathing: a risk for scald burns.

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    Baggott, Kaitlin; Rabbitts, Angela; Leahy, Nicole E; Bourke, Patrick; Yurt, Roger W

    2013-01-01

    Our burn center previously reported a significant incidence of scald burns from tap water among patients treated at the center. However, mechanism of these scalds was not investigated in detail. A recent series of pediatric patients who sustained scalds while bathing in the sink was noted. To evaluate the extent of these injuries and create an effective prevention program for this population, a retrospective study of bathing-related sink burns among pediatric patients was performed. Patients between the ages of 0 and 5.0 years who sustained scald burns while being bathed in the sink were included in this study. Sex, race, age, burn size, length of stay, and surgical procedures were reviewed. During the study period of January 2003 through August 2008, 56 patients who were scalded in the sink were admitted, accounting for 54% of all bathing-related scalds. Among these, 56% were boys and 45% were Hispanic. Mean age was 0.8 ± 0.1 years. Burn size and hospital length of stay averaged 5 ± 0.7% and 11 ± 1 days, respectively. Of this group, 10.7% required skin grafting. The overwhelming majority (94% of patients) were discharged home. The remaining patients were discharged to inpatient rehabilitation, foster care, and others. Pediatric scald burns sustained while bathing in a sink continue to be prevalent at our burn center. Because of limited space and the child's proximity to faucet handles and water flow, sinks are an unsafe location to bathe a child. While such practice may be necessary for some families, comprehensive burn prevention education must address this hazard.

  20. Ectodermal dysplasia-skin fragility syndrome

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    Vijay S Adhe

    2011-01-01

    Full Text Available Ectodermal dysplasia-skin fragility (EDSF syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

  1. Sinking skin flap syndrome in glioblastoma.

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    Kamiya-Matsuoka, Carlos; Shroff, Sheetal; Tatsui, Claudio E; Tremont-Lukats, Ivo W; Gilbert, Mark R

    2014-11-14

    Sinking skin flap syndrome (SSFS) is a rare neurological complication in patients with traumatic haemorrhage, stroke or cerebral oedema who undergo decompressive craniectomy to relieve increased intracranial pressure. Hallmark of SSFS is the sinking of the scalp to a plane lower than the edges of the skull defect in the setting of neurological deterioration. Our objective is to report that SSFS can present after small craniotomy without cerebral cortex compression and to share our diagnostic/therapeutic approach. A 62-year-old woman with a glioblastoma developed SSFS after a small craniectomy and tumour resection without cerebral cortex compression but a decrease in the surgical cavity volume. Brain MRI showed decreased size of the surgical cavity. Interestingly, the patient also developed posterior reversible encephalopathy syndrome (PRES). This case highlights an atypical presentation of SSFS and the possible association with PRES. It also illustrates how an early cranioplasty can successfully reverse SSFS. 2014 BMJ Publishing Group Ltd.

  2. Skin extensibility and consistency in patients with Ehlers-Danlos syndrome and benign joint hypermobility syndrome

    DEFF Research Database (Denmark)

    Remvig, L; Duhn, P H; Ullman, S

    2009-01-01

    OBJECTIVES: The reproducibility of clinical tests for skin extensibility and consistency, essential for differentiating between types of Ehlers-Danlos syndrome (EDS) and benign joint hypermobility syndrome (BJHS), is unknown. Paraclinical methods may provide objective differential diagnostic...

  3. Wound Healing Effects of Prunus yedoensis Matsumura Bark in Scalded Rats

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    Jin-Ho Lee

    2017-01-01

    Full Text Available Pruni Cortex has been used to treat asthma, measles, cough, urticaria, pruritus, and dermatitis in traditional Korean medicine. The objective of this study was to investigate the effects of Prunus yedoensis Matsumura bark methanol extract (PYE on scald-induced dorsal skin wounds in rats. Scalds were produced in Sprague-Dawley rats with 100°C water and treated with 5% and 20% PYE (using Vaseline as a base, silver sulfadiazine (SSD, and Vaseline once a day for 21 days, beginning 24 hours after scald by treatment group allocation. The PYE-treated groups showed accelerated healing from 12 days after scald, demonstrated by rapid eschar exfoliation compared to the control and SSD groups. PYE-treated groups showed higher wound contraction rates and better tissue regeneration in comparison with the control group. Serum analysis showed that transforming growth factor beta 1 and vascular endothelial growth factor levels remained high or gradually increased up to day 14 in both PYE groups and then showed a sharp decline by day 21, implying successful completion of the inflammatory phase and initiation of tissue regeneration. These findings suggested that PYE is effective in promoting scald wound healing in the inflammation and tissue proliferation stages.

  4. Farber disease overlapping with stiff skin syndrome: Expanding the ...

    African Journals Online (AJOL)

    Stiff skin syndrome (SSS) (MIM %184900)1 was fi rst described by Esterly and McKusick as a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with fl exion contractures. Aim of the Study: Diagnosis and clarifi cation of overlapping in the clinical presentation of the studied ...

  5. Touraine Solente Gole syndrome: The elephant skin disease

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    T. M. Sheeja Rajan

    2013-01-01

    Full Text Available Touraine Solente Gole syndrome is a rare hereditary syndrome of primary pachydermoperiostosis, with the characteristic triad of pachydermia (or elephant like skin, periostosis and acropachia. A 27-year-old patient presented with aesthetic deformity of forehead due to deep skin folds and coarsening of facial features due to progressive thickening of skin. Associated palmoplantar hyperkeratosis with broadened of finger and toe tips and digital clubbing were noticed. Dermatologic evaluation revealed cutis verticis gyrata of scalp, seborrhoeic hyperplasia of face and hyperhidrosis. Natural history of the disease and aetiopathogenesis were reviewed. Aesthetic correction of forehead through frontal rhytidectomy was attempted.

  6. Touraine Solente Gole syndrome: The elephant skin disease.

    Science.gov (United States)

    Rajan, T M Sheeja; Sreekumar, N C; Sarita, S; Thushara, K R

    2013-09-01

    Touraine Solente Gole syndrome is a rare hereditary syndrome of primary pachydermoperiostosis, with the characteristic triad of pachydermia (or elephant like skin), periostosis and acropachia. A 27-year-old patient presented with aesthetic deformity of forehead due to deep skin folds and coarsening of facial features due to progressive thickening of skin. Associated palmoplantar hyperkeratosis with broadened of finger and toe tips and digital clubbing were noticed. Dermatologic evaluation revealed cutis verticis gyrata of scalp, seborrhoeic hyperplasia of face and hyperhidrosis. Natural history of the disease and aetiopathogenesis were reviewed. Aesthetic correction of forehead through frontal rhytidectomy was attempted.

  7. A special type of scald caused by prolonged exposure to slowly heated water.

    Science.gov (United States)

    Pircher, R; Pollak, S; Vogt, S; Epting, T; Kramer, L; Geisenberger, D

    2016-06-01

    When skin is subjected to water temperatures gradually rising from moderate to critical ranges for a prolonged period of time, the resulting scalds will initially present as reddening, followed by blistering and at last by full-thickness burns. On changing from second- to third-degree burn, the blisters stop to become enlarged and solidify due to heat-induced coagulation necrosis. Such gradually intensifying tissue damage results in multiple firm skin blisters together with third-degree burn of the affected area. The initially serous blister fluid assumes a jelly-like consistency as the proteins undergo denaturation. Scalds of this special type may occur in persons taking a bath and becoming incapable to act so that the warm water tap remains turned on or a hairdryer continues to work after having been dropped into the bath water. On the basis of two relevant fatalities (suicidal electrocutions in bathtubs by means of hairdryers), the macroscopic and histological appearance of blisters which only secondarily turned into a full-thickness scald is compared with blisters in genuine second-degree scalds. The blister fluid of the latter ones was also investigated as to their protein composition and hemoglobin concentration. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. A 12-year retrospective study of non-burn skin loss (burn-like syndromes) at a tertiary burns unit in a developing country.

    Science.gov (United States)

    Ugburo, A O; Temiye, E O; Ilombu, C A

    2008-08-01

    A retrospective study of the presentation, etiology, and prognosis of non-burn epidermal loss managed at the Lagos University Teaching Hospital Nigeria over a 12-year period. Admission records of patients managed for non-burn skin loss were retrieved from the medical records. Demographic details of the patients, the initial diagnosis, final diagnosis, treatment and outcome of treatment was noted. A total of 23 patients were identified, 17 (74%) had idiosyncratic drug reactions. Of this 17, 6 (26%) had Steven Johnson Syndrome, 6 (26%) had Steven Johnson Syndrome/toxic epidermal necrolysis while 5 (22%) presented with toxic epidermal necrolysis. Three of the five patients with toxic epidermal necrolysis died. The age range of patients with idiosyncratic adverse drug reactions was 2-28 years, mean, 10.18+/-1.44 years and male to female ratio of 1:1.83. The body surface area involved ranged from 8 to 78%; mean 26.65+/-6.08%. The agents suspected for the reactions were Co-trimoxazole (41.2%) and combination of Co-trimoxazole, and Fansidar (17.6%). Other conditions seen were two (9%) Staphylococcal Scalded Skin Syndrome, three (13%) had Necrotizing Faciitis, one of whom was HIV positive and died. One (4%) patient presented with pemphigus vulgaris. The presentation and management of the patients was discussed.

  9. The skin function: a factor of anti-metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Zhou Shi-Sheng

    2012-04-01

    Full Text Available Abstract The body’s total antioxidant capacity represents a sum of the antioxidant capacity of various tissues/organs. A decrease in the body’s antioxidant capacity may induce oxidative stress and subsequent metabolic syndrome, a clustering of risk factors for type 2 diabetes and cardiovascular disease. The skin, the largest organ of the body, is one of the major components of the body’s total antioxidant defense system, primarily through its xenobiotic/drug biotransformation system, reactive oxygen species-scavenging system, and sweat glands- and sebaceous glands-mediated excretion system. Notably, unlike other contributors, the skin contribution is variable, depending on lifestyles and ambient temperature or seasonal variations. Emerging evidence suggests that decreased skin’s antioxidant and excretory functions (e.g., due to sedentary lifestyles and low ambient temperature may increase the risk for metabolic syndrome. This review focuses on the relationship between the variability of skin-mediated detoxification and elimination of exogenous and endogenous toxic substances and the development of metabolic syndrome. The potential role of sebum secretion in lipid and cholesterol homeostasis and its impact on metabolic syndrome, and the association between skin disorders (acanthosis nigricans, acne, and burn and metabolic syndrome are also discussed.

  10. Absent skin at birth with blistering: Bart's Syndrome?

    Directory of Open Access Journals (Sweden)

    Amina Asfiya M Iqbal

    2017-01-01

    Full Text Available Bart's Syndrome is a disorder characterised by aplasia cutis congenita and epidermolysis bullosa. We report a case of a 4-day-old baby who had absent skin over the legs along with blistering and nail dystrophy. The diagnosis of Bart's Syndrome was made based on history and clinical examination. However, detailed investigations and histopathological confirmation is needed for final diagnosis. The management is conservative and needs multidisciplinary support.

  11. Be vigilant for skin manifestations of inherited cancer syndromes.

    Science.gov (United States)

    Tidman, Alice SM

    2017-01-01

    More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient. However, a number of cancer syndromes exhibit an increased risk of developing malignant skin lesions. For instance, Gorlin syndrome (nevoid basal cell carcinoma syndrome) which typically results in the development of multiple basal cell carcinomas, within the first few decades of life. The majority of cancer syndromes with skin signs are inherited in an autosomal dominant pattern demonstrating complete penetrance before the age of 70. Once a cancer syndrome has been diagnosed, the cornerstone of management is frequent surveillance for the early detection and treatment of malignancy. Genetic testing and counselling should be offered to family members.

  12. Programming MapReduce with Scalding

    CERN Document Server

    Chalkiopoulos, Antonios

    2014-01-01

    This book is an easy-to-understand, practical guide to designing, testing, and implementing complex MapReduce applications in Scala using the Scalding framework. It is packed with examples featuring log-processing, ad-targeting, and machine learning. This book is for developers who are willing to discover how to effectively develop MapReduce applications. Prior knowledge of Hadoop or Scala is not required; however, investing some time on those topics would certainly be beneficial.

  13. [Skin manifestations of toxic syndrome due to denatured rapeseed oil].

    Science.gov (United States)

    Fonseca, E

    2009-12-01

    This article offered an extensive description of the clinical and pathological features and time-course of the skin manifestations of toxic syndrome caused by denatured rapeseed oil, also known as toxic oil syndrome. This new condition occurred in Spain in 1981 and was due to the ingestion of rapeseed oil intended for industrial use that had been denatured with anilines and subsequently refined and sold fraudulently as olive oil. In total, 20,000 cases and 400 deaths were reported. The disease affected mainly women, particularly in the late stages. In the acute phase, the predominant skin manifestations were toxic-allergic rashes reminiscent of allergic urticaria in the dermatopathologic study. In approximately 25% of cases, the patients' skin subsequently took on an edematous appearance, with pigmentary abnormalities shown to be related to cutaneous mucinosis. Finally, a characteristic sclerodermatous condition would develop that tended to improve spontaneously. The constant presence of mast cells in all biopsies and the development of mastocytosis in several patients pointed to an important role for these cells in the pathogenesis of the condition. This was subsequently confirmed in other sclerodermatous processes. In 1989, eosinophilia-myalgia syndrome caused by toxins present in tryptophan food supplements was reported in the United States. This syndrome resembled toxic oil syndrome in many ways and demonstrated that mucinosis and toxic sclerodermatous processes do exist.

  14. Síndrome stiff skin: relato de caso Stiff skin syndrome: case report

    Directory of Open Access Journals (Sweden)

    Adriana Gutstein da Fonseca Amorim

    2011-08-01

    Full Text Available Síndrome stiff skin é doença rara, esclerodermiforme, de etiologia desconhecida, caracterizada por endurecimento pétreo da pele, hipertricose leve e limitação da mobilidade articular. Não há tratamento efetivo até o momento. Exercícios e reabilitação são importantes para manter a qualidade de vida do paciente. Os autores apresentam caso de um menino de dois anos de idade com endurecimento cutâneo progressivo desde os oito meses de idade e restrição secundária da mobilidade articular, diagnosticado como Síndrome stiff skinStiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild hypertrichosis and limited joint mobility. No effective treatment has yet been found. Exercises and rehabilitative therapy are important in maintaining the patient's quality of life. The authors present a case of a two-year-old boy with progressive skin hardening since he was eightmonth old and secondary restricted joint mobility, diagnosed as Stiff skin syndrome

  15. Preventing unintentional scald burns: moving beyond tap water.

    Science.gov (United States)

    Lowell, Gina; Quinlan, Kyran; Gottlieb, Lawrence J

    2008-10-01

    The goal was to examine in detail the mechanisms of significant scald burns among children burns between January 1, 2002, and December 31, 2004, were identified through the University of Chicago Burn Center database. Demographic data and details of the circumstances and mechanisms of injury were extracted from the medical records. Of 640 admissions to the University of Chicago Burn Center during the 3-year study period, 140 (22%) involved children burns. Of the 137 available charts reviewed, 118 involved unintentional injuries. Of those unintentional injuries, 14 were tap water scalds and 104 were non-tap water scalds. Of the non-tap water scalds, 94 scalds (90.4%) were related to hot cooking or drinking liquids. Two unexpected patterns of injury were discovered. Nine children (8.7%) between the ages of 18 months and 4 years were scalded after opening a microwave oven and removing the hot substance themselves. Seventeen children (16.3%) were scalded while an older child, 7 to 14 years of age, was cooking or carrying the scalding substance or supervising the younger child. Current prevention strategies and messages do not adequately address the most common mechanisms of scald injury requiring hospitalization. Easy access to a microwave oven poses a significant scald risk to children as young as 18 months of age, who can open the door and remove the hot contents. An engineering fix for microwave ovens could help protect young children from this mechanism of scalding. Involvement of older children in a subset of scald injuries is a new finding that may have prevention implications.

  16. Impacct of scalding duration and scalding water temperature on broiler processing wastewater loadings

    Science.gov (United States)

    The effects of scalding water temperature and immersion time on impact to poultry processing wastewater (PPW) loading were evaluated following the slaughter of commercially raised broilers. Based on previous research, the hypothesis was that immersion time would have a significant impact on PPW load...

  17. Ectodermal dysplasia-skin fragility syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Subhash Kashyap

    2015-01-01

    Full Text Available Ectodermal dysplasia/skin fragility syndrome (ED-SFS is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1, which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality.

  18. Patterns of scald injuries in children--has anything changed?

    LENUS (Irish Health Repository)

    Yates, J

    2011-10-01

    The objective was to study presentation patterns of scald injuries in children and suggest potential countermeasures to reduce these injuries. We retrospectively studied scald injuries in children attending an urban paediatric emergency department between January 1st and December 31st 2008. Data was extracted from our emergency department database using search terms \\'burn\\

  19. A Preliminary Analysis of the Phenomenology of Skin-Picking in Prader-Willi Syndrome

    Science.gov (United States)

    Morgan, Jessica R.; Storch, Eric A.; Woods, Douglas W.; Bodzin, Danielle; Lewin, Adam B.; Murphy, Tanya K.

    2010-01-01

    To examine the nature and psychosocial correlates of skin-picking behavior in youth with Prader-Willi Syndrome (PWS). Parents of 67 youth (aged 5-19 years) with PWS were recruited to complete an internet-based survey that included measures of: skin-picking behaviors, the automatic and/or focused nature of skin-picking, severity of skin-picking…

  20. Puffy Hand Syndrome Revealed by a Severe Staphylococcal Skin Infection

    Directory of Open Access Journals (Sweden)

    Reyhan Amode

    2013-01-01

    Full Text Available Puffy hand syndrome develops after long-term intravenous drug addiction. It is characterized by a nonpitting edema, affecting the dorsal side of fingers and hands with puffy aspect. Frequency and severity of the complications of this syndrome are rarely reported. Local infectious complications such as cellulitis can be severe and can enable the diagnosis. Herein, we report the case of a 41-year-old man who went to the emergency department for abdominal pain, fever, and bullous lesions of legs and arms with edema. Bacteriologic examination of a closed bullous lesion evidenced a methicillin sensitive Staphylococcus aureus. The abdomen computed tomography excluded deep infections and peritoneal effusion. The patient was successfully treated by intravenous oxacillin and clindamycin. He had a previous history of intravenous heroin addiction. We retained the diagnosis of puffy hand syndrome revealed by a severe staphylococcal infection with toxic involvement mimicking a four limbs cellulitis. Puffy hand syndrome, apart from the chronic lymphedema treatment, has no specific medication available. Prophylactic measures against skin infections are essential.

  1. Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

    DEFF Research Database (Denmark)

    Remvig, L; Duhn, Ph; Ullman, S

    2010-01-01

    The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin extensibility...

  2. Skin Findings in a Patient with Sjogren’s Syndrome

    Directory of Open Access Journals (Sweden)

    Prajwal Boddu

    2016-01-01

    Full Text Available Hypergammaglobulinemic purpura (HGP is a syndrome constellating recurrent purpura, hypergammaglobulinemia, positive rheumatoid factor (RF, anti-Ro/La antibodies, and elevated erythrocyte sedimentation rate (ESR. We present a case of a 29-year-old female who was diagnosed with Sjogren’s syndrome four years prior to presenting with rash on her lower extremities for a period of 6 months. Skin biopsy at the initial visit was consistent with leukocytoclastic vasculitis and was initiated on treatment for it. Her rash evolved into 2–5 mm scattered purpurae while she was on the treatment and a repeat biopsy showed extravasation of RBCs, a sparse mononuclear infiltrate with deposition of plasma cells, and no evidence of leukocytoclastic vasculitis, thus showing a transition from neutrophilic to mononuclear inflammatory vascular disease which is a rare occurrence. Hypergammaglobulinemic purpura sometimes turns out to be a challenging disease to manage and requires an integrated effort from the primary care doctors, rheumatologist, and dermatologist.

  3. A Marfan syndrome gene expression phenotype in cultured skin fibroblasts

    Directory of Open Access Journals (Sweden)

    Emond Mary

    2007-09-01

    Full Text Available Abstract Background Marfan syndrome (MFS is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of ascending and thoracic aortic aneurysms. Results We used spotted membrane DNA macroarrays to identify genes whose altered expression levels may contribute to the phenotype of the disease. Our analysis of 4132 genes identified a subset with significant expression differences between skin fibroblast cultures from unaffected controls versus cultures from affected individuals with known fibrillin-1 mutations. Subsequently, 10 genes were chosen for validation by quantitative RT-PCR. Conclusion Differential expression of many of the validated genes was associated with MFS samples when an additional group of unaffected and MFS affected subjects were analyzed (p-value -6 under the null hypothesis that expression levels in cultured fibroblasts are unaffected by MFS status. An unexpected observation was the range of individual gene expression. In unaffected control subjects, expression ranges exceeding 10 fold were seen in many of the genes selected for qRT-PCR validation. The variation in expression in the MFS affected subjects was even greater.

  4. Treatment of Chronic Skin-Picking in an Adolescent With Asperger Syndrome and Borderline Intellectual Disability

    NARCIS (Netherlands)

    Lang, R.B.; Didden, H.C.M.; Sigafoos, J.; Rispoli, M.; Regester, A.; Lancioni, G.E.

    2009-01-01

    We present the case of a 17-year-old girl with Asperger syndrome and borderline intellectual disability with a 5-year history of chronic skin-picking. Our intervention approach included an initial functional assessment to identify variables maintaining skin-picking, followed by evaluation of a

  5. [Effects of vacuum drainage combined with heparin irrigation for treatment of scald burns with seawater immersion in rabbits].

    Science.gov (United States)

    Zhang, Wen-Hao; Wu, Qi; Ma, Jun; Wang, Jia-Han

    2015-10-01

    To investigate the effect of closed vacuum drainage combined with heparin irrigation in the treatment of scald burns with seawater immersion in rabbits. Twenty New Zealand rabbits were subjected to deep partial-thickness scald burns in 4 regions on the bilateral skin of the spine. The wounds were managed with common dressing (group A), common dressing after seawater immersion (group B), closed vacuum drainage after seawater immersion (group C), or closed vacuum drainage combined with heparin irrigation after seawater immersion (group D). Wound effusion and tissue necrosis were observed at 1, 3, 5 and 7 days after the burns. Tissue samples were collected from the wounds for HE staining and immunohistochemistry for VEGF and CD31, and the changes of capillary endothelial cells in the wound were observed using electron microscopy. The water content in the wound tissues was determined, and the wound healing rate was calculated after the injury. Sea water immersion of the wound results in earlier onset of edema and more extensive tissue necrosis in the scalded rabbits. The mean necrotic area in groups C and D was smaller than that in group B early after the burns, and vacuum drainage promoted necrotic tissue elimination and accelerated wound healing. Early after the burns, water content in the tissues increased with time in all the groups and reached the highest level at 3 days, and was significantly lower in groups C and D than in group B. Pathologically, vascular endothelial cell damage at the wound site was worsened after seawater immersion. In group D, the basement membrane damage was milder and the endothelial cell membrane remained intact at the wound site, where new blood vessels occurred at 3 days after the burns, a time earlier than that in the other 3 groups with also the highest vascular density. Closed vacuum drainage combined with heparin irrigation can relieve edema at the scald wound with seawater immersion, improve microcirculation, accelerate the removal

  6. Scald burn, a preventable injury: Analysis of 4306 patients from a major tertiary care center.

    Science.gov (United States)

    Sahu, Shamendra Anand; Agrawal, Karoon; Patel, Pankaj Kumar

    2016-12-01

    Scalds have distinct epidemiological and predisposing risk factors amongst all types of burns. Though scald affects all age groups, the brunt falls on the minor age groups. It may result in major physical disabilities and significant loss of school years. Apart from the economic burden on family, major scald burn may compromise overall development of the affected children. Most of the scald injuries occur in domestic settings and are preventable. Despite improvement in living conditions, the incidence of scald burn has failed to decline. Our aim was to study the detailed epidemiology and severity of scald burn amongst all age groups. A retrospective study was carried out from the records of all burn patients who attended a tertiary burn care center from January 2013 and December 2014. Data of the patients with scald injury was segregated and analyzed using Microsoft excel spreadsheet. 10,175 burn patients attended the burn casualty during the study period, of which 42.3% had sustained scald. 56.85% of patients were under 15 years of age with preschool children (36.4%) being the prime victims of scald. The % TBSA involved is also relatively larger in children. Scald follows definite seasonal variation peaking in winters. 36.8% patients arrived to the hospital without any first aid. 74.2% of patients reported to casualty with in 24hours after sustaining scald injury. The median time interval between injury and reporting to casualty was 3hours 30minutes. This study concludes that the scald is injury of all age groups, though majority of them are children. The first aid is not given to large number of patients and late reporting is quite common. These are the factors which may affect the course of scald burn. Spreading public awareness regarding safe household practises and educating them for proper first aid management after scald may have significant impact on the burden of care and outcome. Copyright © 2016 Elsevier Ltd and ISBI. All rights reserved.

  7. Sneddon syndrome and the diagnostic value of skin biopsies - Three young patients with intracerebral lesions and livedo racemosa

    NARCIS (Netherlands)

    Legierse, Catharina M.; Dijk, Marijke R. Canninga-Van; Bruijnzeel-Koomen, Carla A. F. M.; Kuck-Koot, Veronica C. M.

    2008-01-01

    Sneddon syndrome is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, vertigo, transient ischaemic attacks (TIA), stroke, and seizures. Diagnosis of Sneddon syndrome is based on these clinical features and positive

  8. From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging.

    Science.gov (United States)

    Capell, Brian C; Tlougan, Brook E; Orlow, Seth J

    2009-10-01

    Despite their rarity, diseases of premature aging, or "progeroid" syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging. In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. Though they are caused by different mutations in various genes and often result in quite disparate phenotypes, deciphering the molecular bases of these conditions has served to highlight their underlying basic similarities. Studies of progeroid syndromes, particularly HGPS, the most dramatic form of premature aging, have contributed to our knowledge of fundamental processes of importance to skin biology, including DNA transcription, replication, and repair, genome instability, cellular senescence, and stem-cell differentiation.

  9. Nephrotic syndrome of minimal change disease following exposure to mercury-containing skin-lightening cream.

    Science.gov (United States)

    Zhang, Lin; Liu, Fuyou; Peng, Youming; Sun, Lin; Chen, Chunguo

    2014-01-01

    A 28-year-old female suffered from nephrotic syndrome after a long-term use of mercury-containing, skin-lightening cream. The blood and urinary mercury content of this patient increased with use. Renal biopsy showed minimal change disease. Her symptoms were relieved 6 months after discontinuing use of the cream and receiving sodium dimercaptosulfonate and glucocorticosteroid treatments. Proteinuria disappeared, and blood and urinary mercury levels returned to normal. Previous reports of nephrotic syndrome caused by mercury-containing, skin-lightening creams have mostly been identified as be.ing due to membranous nephropathy. Minimal change disease has been reported in a few case reports published in the English language. Here we report a case of nephrotic syndrome with minimal change disease following exposure to a mercury-containing, skin-lightening cream. We also reviewed relevant published reports to summarize clinical features and treatments and to explore the possible mechanisms involved.

  10. Are We Serving Tea or Scalding Our Children?

    Directory of Open Access Journals (Sweden)

    Ilhan Ciftci

    2013-02-01

    Method: We retrospectively studied 255 patients between 0 and 5 years of age who suffered from major burns and who received inpatient treatment in the Burn Unit based on the guidelines of the American Burn Association between 2009 and 2011. The patients' age, gender, burn location, cause of burn, time to reach a health center after burn, and depth and width of the burn were evaluated. The possibility of a seasonal correlation was investigated as well. Results: Of the patients, 38.4% were female and 61.6% were male. The mean age of the patients was 2.1+/-1.2 years. The mean burned surface area amounted to 10.8% +/-7.4%. The nature of the burns was as follows: scalding in 73.7% (tea in 46.7%, hot water in 25.9%, and vapor in 1.2%, chemical burns in 16.1%, contact burns from hot contact in 5.5%, and flame burns in 4.7%. Conclusion: Most of the burns observed among preschool children occur indoors, with the majority of these burns represented by scalding burns. Most scalding burns arise from splashes of hot tea. In fact, burns associated with hot tea comprise nearly 50% of all burns. [Arch Clin Exp Surg 2013; 2(1.000: 32-37

  11. Sympathetic skin responses in hemiplegic patients with and without complex regional pain syndrome

    OpenAIRE

    Selçuk Barin; Ersoz Murat; Inanir Murat; Kurtaran Aydan; Akyuz Müfit

    2006-01-01

    Background and Aims: To investigate whether there were changes in the sympathetic skin responses (SSR) in the limbs with complex regional pain syndrome (CRPS) type I in hemiplegic patients. Setting: A physical medicine and rehabilitation center in Turkey . Materials and Methods: Sympathetic skin responses were evaluated in 69 stroke patients (41 with CRPS and 28 without CRPS) and 20 healthy volunteers. SSR were recorded on the paretic and healthy hands after stimulation of the ipsilateral...

  12. Multicenter study on the asymmetry of skin temperature in complex regional pain syndrome

    OpenAIRE

    Cho, Chan Woo; Nahm, Francis Sahngun; Choi, Eunjoo; Lee, Pyung-Bok; Jang, In-ki; Lee, Chul Joong; Kim, Yong Chul; Lee, Sang Chul

    2016-01-01

    Abstract According to the International Association for the Study of Pain (IASP) and American Medical Association (AMA), the diagnostic criteria for complex regional pain syndrome (CRPS) require the presence of skin temperature asymmetry. In CRPS, it is generally accepted that the temperature of skin of affected limbs changes from warm to cold; however, in our clinical practice, we have experienced many cases with different thermographic characteristics. Therefore, we conducted a retrospectiv...

  13. Target metabolite and gene transcription profiling during the development of superficial scald in apple (Malus x domestica Borkh)

    Science.gov (United States)

    2014-01-01

    Background Fruit quality features resulting from ripening processes need to be preserved throughout storage for economical reasons. However, during this period several physiological disorders can occur, of which superficial scald is one of the most important, due to the development of large brown areas on the fruit skin surface. Results This study examined the variation in polyphenolic content with the progress of superficial scald in apple, also with respect to 1-MCP, an ethylene competitor interacting with the hormone receptors and known to interfere with this etiology. The change in the accumulation of these metabolites was further correlated with the gene set involved in this pathway, together with two specific VOCs (Volatile Organic Compounds), α-farnesene and its oxidative form, 6-methyl-5-hepten-2-one. Metabolite profiling and qRT-PCR assay showed these volatiles are more heavily involved in the signalling system, while the browning coloration would seem to be due more to a specific accumulation of chlorogenic acid (as a consequence of the activation of MdPAL and MdC3H), and its further oxidation carried out by a polyphenol oxidase gene (MdPPO). In this physiological scenario, new evidence regarding the involvement of an anti-apoptotic regulatory mechanism for the compartmentation of this phenomenon in the skin alone was also hypothesized, as suggested by the expression profile of the MdDAD1, MdDND1 and MdLSD1 genes. Conclusions The results presented in this work represent a step forward in understanding the physiological mechanisms of superficial scald in apple, shedding light on the regulation of the specific physiological cascade. PMID:25038781

  14. Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches.

    Science.gov (United States)

    Notay, Manisha; Kamangar, Faranak; Awasthi, Smita; Fazel, Nasim

    2017-03-01

    We report a case of an increasing number of discrete patches of darkly pigmented terminal hair in a patient with nevoid basal cell carcinoma syndrome. This case adds to a small case series of three patients which have previously reported this observation. We report this case to highlight hairy patches as an important clinical feature associated with nevoid basal cell carcinoma syndrome. © 2017 Wiley Periodicals, Inc.

  15. Skin injuries and joint contractures of the upper extremities in Rett syndrome.

    Science.gov (United States)

    Hirano, D; Taniguchi, T

    2018-01-01

    The purpose of this study was to investigate the incidence and type of skin injuries and joint contractures of the upper extremities in individuals with Rett syndrome. In 2016, a questionnaire regarding skin injuries and joint contractures was sent to 1016 directors of schools for special needs education and 204 directors of departments of rehabilitation [consisting of 130 facilities for persons with severe motor and intellectual disabilities (SMID), 73 wards for patients with SMID, and the National Hospital Organisation and National Centre Hospital, National Centre of Neurology and Psychiatry] in Japan. Descriptive statistics were used to indicate frequency in each question. Information was acquired from 216 cases (3-53 years old) with Rett syndrome. Skin injuries and joint contractures of the upper extremities were observed in 41% and 49% of individuals with Rett syndrome, respectively. Most of the skin injuries were observed on the hands (19%) and fingers (29%). The incidence of skin injuries was not affected by age or disease severity. Many joint contractures were observed in the shoulder (33%) and elbow (29%) joints. Joint contractures tended to occur in individuals aged over 10 years or with severe locomotor impairment. Almost half of the Rett syndrome subjects assessed in the present study had skin injuries and joint contractures. Especially, the incidence of joint contractures was affected by age and disease severity. Thus, it is important that medical staff attempt to prevent the occurrence of skin injuries and joint contractures in this patient population. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  16. [Clinical application of moving cupping therapy based on skin reaction observation and syndrome differentiation].

    Science.gov (United States)

    Deng, Xiao-Lan; Chen, Bo; Chen, Ze-Lin

    2014-12-01

    The diagnostic evidence on clinical diseases and theoretic basis of moving cupping therapy were ex- plored in the paper. By the observation of the local reaction, such as skin appearance and color, the affected location, duration of sickness and nature of disease were judged. Different moving cupping methods were selected for different disorders. It was discovered that the property of syndromes should be recognized by the palpation on skin and muscle in the moving cupping therapy so that the pathogenesis and treating principle could be carefully determined. The moving cupping therapy is the important component of body surface therapy. Skin reaction observation and syndrome differentiation is the essential guidance of the moving cupping therapy.

  17. Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome.

    Science.gov (United States)

    Monthoux, Chloé; de Brot, Simone; Jackson, Michelle; Bleul, Ulrich; Walter, Jasmin

    2015-01-31

    Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia, dermal/cutaneous asthenia or Ehlers-Danlos-like syndrome/s. In 2007, the mutation responsible for Hereditary Equine Regional Dermal Asthenia (HERDA) in Quarter Horses was discovered. Several case reports are available for similar malformations in other breeds than Quarter Horses (Draught Horses, Arabians, and Thoroughbreds) including four case reports for Warmblood horses. Since 2013, a genetic test for the Warmblood Fragile Foal Syndrome Type 1 (WFFS), interrogating the causative point mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1) gene, has become available. Only limited data are available on the occurrence rate and clinical characteristics of this newly detected genetic disease in horses. In humans mutations in this gene are associated with Ehlers-Danlos Syndrome Type VI (kyphoscoliotic form). This is the first report describing the clinical and histopathological findings in a foal confirmed to be homozygous positive for WFFS. The Warmblood filly was born with very thin, friable skin, skin lesions on the legs and the head, and an open abdomen. These abnormalities required euthanasia just after delivery. Histologic examination revealed abnormally thin dermis, markedly reduced amounts of dermal collagen bundles, with loosely orientation and abnormally large spaces between deep dermal fibers. WFFS is a novel genetic disease in horses and should be considered in cases of abortion, stillbirth, skin lesions and malformations of the skin in neonatal foals. Genetic testing of suspicious cases will contribute to evaluate the frequency of occurrence of clinical WFFS cases and its relevance for the horse population.

  18. Hot soup! Correlating the severity of liquid scald burns to fluid and biomedical properties.

    Science.gov (United States)

    Loller, Cameron; Buxton, Gavin A; Kerzmann, Tony L

    2016-05-01

    Burns caused by hot drinks and soups can be both debilitating and costly, especially to pediatric and geriatric patients. This research is aimed at better understanding the fluid properties that can influence the severity of skin burns. We use a standard model which combines heat transfer and biomedical equations to predict burn severity. In particular, experimental data from a physical model serves as the input to our numerical model to determine the severity of scald burns as a consequence of actual fluid flows. This technique enables us to numerically predict the heat transfer from the hot soup into the skin, without the need to numerically estimate the complex fluid mechanics and thermodynamics of the potentially highly viscous and heterogeneous soup. While the temperature of the soup is obviously is the most important fact in determining the degree of burn, we also find that more viscous fluids result in more severe burns, as the slower flowing thicker fluids remain in contact with the skin for longer. Furthermore, other factors can also increase the severity of burn such as a higher initial fluid temperature, a greater fluid thermal conductivity, or a higher thermal capacity of the fluid. Our combined experimental and numerical investigation finds that for average skin properties a very viscous fluid at 100°C, the fluid must be in contact with the skin for around 15-20s to cause second degree burns, and more than 80s to cause a third degree burn. Copyright © 2015 Elsevier Ltd and ISBI. All rights reserved.

  19. Skin dendritic cell and T cell activation associated with dengue shock syndrome.

    Science.gov (United States)

    Duyen, Huynh Thi Le; Cerny, Daniela; Trung, Dinh The; Pang, Jassia; Velumani, Sumathy; Toh, Ying Xiu; Qui, Phan Tu; Hao, Nguyen Van; Simmons, Cameron; Haniffa, Muzlifah; Wills, Bridget; Fink, Katja

    2017-10-27

    The pathogenesis of severe dengue remains unclear, particularly the mechanisms underlying the plasma leakage that results in hypovolaemic shock in a small proportion of individuals. Maximal leakage occurs several days after peak viraemia implicating immunological pathways. Skin is a highly vascular organ and also an important site of immune reactions with a high density of dendritic cells (DCs), macrophages and T cells. We obtained skin biopsies and contemporaneous blood samples from patients within 24 hours of onset of dengue shock syndrome (DSS), and from healthy controls. We analyzed cell subsets by flow cytometry, and soluble mediators and antibodies by ELISA; the percentage of migratory CD1a+ dermal DCs was significantly decreased in the DSS patients, and skin CD8+ T cells were activated, but there was no accumulation of dengue-specific antibodies. Inflammatory monocytic cells were not observed infiltrating the skin of DSS cases on whole-mount histology, although CD14dim cells disappeared from blood.

  20. Goose skin in a girl with Ehlers–Danlos syndrome

    Science.gov (United States)

    Martínez-Coronado, Jared; Torres-Alvarez, Bertha; Castanedo-Cázares, Juan Pablo

    2015-01-01

    Pellagra is a nutritional disorder secondary to niacin deficiency. The classical triad is dermatitis, diarrhea, and dementia. We report the case of a young girl with hypermobility-type Ehlers–Danlos syndrome who exhibited the classical pellagra symptoms, despite apparent adequate nutritional intake. Her condition resolved after oral niacin supplements were administered. Although this association has not previously been recognized, an inherited connective tissue disorder may be related to the appearance of pellagra. PMID:26333860

  1. Goose skin in a girl with Ehlers–Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Jared Martínez-Coronado

    2015-09-01

    Full Text Available Pellagra is a nutritional disorder secondary to niacin deficiency. The classical triad is dermatitis, diarrhea, and dementia. We report the case of a young girl with hypermobility-type Ehlers–Danlos syndrome who exhibited the classical pellagra symptoms, despite apparent adequate nutritional intake. Her condition resolved after oral niacin supplements were administered. Although this association has not previously been recognized, an inherited connective tissue disorder may be related to the appearance of pellagra.

  2. Effects of scalding method and sequential tanks on broiler processing wastewater loadings

    Science.gov (United States)

    The effects of scalding time and temperature, and sequential scalding tanks was evaluated based on impact to poultry processing wastewater (PPW) stream loading rates following the slaughter of commercially raised broilers. On 3 separate weeks (trials), broilers were obtained following feed withdrawa...

  3. Experimental functional analysis of severe skin-picking behavior in Prader-Willi syndrome.

    Science.gov (United States)

    Hall, Scott S; Hustyi, Kristin M; Chui, Clara; Hammond, Jennifer L

    2014-10-01

    Skin picking is an extremely distressing and treatment resistant behavior commonly shown by individuals with Prader-Willi syndrome (PWS). However, with the exception of a limited number of published single-case and survey studies, little is known about the environmental determinants of skin picking in this population. In this study, functional analyses were conducted with thirteen individuals with PWS, aged 6-23 years, who engaged in severe skin-picking behavior. In addition to the conditions typically employed in a functional analysis (i.e., alone, attention, play, demand), we included an ignore condition to examine potential effects of stimulus control by the presence of an adult. Twelve participants engaged in skin picking during the functional analysis, with the highest levels occurring in the alone and ignore conditions for eight participants, suggesting that skin picking in these participants was maintained by automatic reinforcement. For the remaining four participants, an undifferentiated pattern of low-rate skin picking was observed across conditions. These data confirm previous studies indicating that skin picking in PWS may be maintained most often by automatically produced sensory consequences. There were no associations between demographic characteristics of the participants (e.g., sex, age, IQ or BMI) and levels of skin picking observed in the functional analysis. Additional investigations are needed to identify the nature of the sensory consequences produced during episodes of skin picking in PWS. Behavioral interventions designed to extinguish or compete with the potential sensory consequences arising from skin picking in PWS are also warranted. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Four Cases of Atopic Dermatitis Complicated by Sjogren's Syndrome: Link between Dry Skin and Autoimmune Anhidrosis

    Directory of Open Access Journals (Sweden)

    Shun Kitaba

    2011-01-01

    Full Text Available We report four adult cases of atopic dermatitis (AD complicated by Sjogren's syndrome (SS. The patients fulfilled diagnostic criteria for AD and SS. All cases showed persistent itchy dry skin and eczematous lesions complicated by sicca symptoms including dry eyes and dry mouth with moderate joint pain. One case manifested annular erythema and another manifested widespread discoid erythema. To investigate the underlying cause of dry skin in these cases, sweating function was evaluated using a quantitative sudomotor axon reflex test (QSART in which the axon reflex is stimulated by acetylcholine iontophoresis. The sweating latency time was significantly prolonged in eczematous skin of AD and AD/SS compared to normal controls. Axon reflex (AXR sweat volume was also significantly reduced in AD (normal and eczematous skin and AD/SS (normal and eczema compared to normal control. In contrast, the direct sweat volume of lesional or non-lesional AD skin induced by direct stimulation with acetylcholine was only slightly reduced compared to that in normal controls, but not in SS and lesional skin of AD/SS patients. These results suggest that the impaired sweat response in AD is attributable to an abnormal sudomotor axon reflex, which is accelerated and modulated when complicated by SS resulting in dry skin in the present cases.

  5. Differential skin test reactivity to pollens in pollen food allergy syndrome versus allergic rhinitis.

    Science.gov (United States)

    Ta, Von; Scott, David R; Chin, William K; Wineinger, Nathan E; Kelso, John M; White, Andrew A

    2015-01-01

    Pollen food allergy syndrome (PFAS), also called oral allergy syndrome, is a form of food allergy in which uncooked foods cause allergic symptoms generally limited to the oral mucosa. It occurs in a subset of patients with pollen allergy, although not all patients have prominent rhinitis symptoms. PFAS is related to antigenic similarity between the pollen and food allergen. The size of skin test reactions in a group of subjects with pollen sensitivity with PFAS was compared with a group of subjects who were pollen sensitive and without PFAS. Self-reported rhinitis symptoms between the two groups were compared to identify if symptom severity differed. Twenty subjects with PFAS and 20 subjects with seasonal allergic rhinitis without PFAS were enrolled in the study. All the subjects underwent standard skin-prick testing to a panel of common allergens, including select fresh fruits and vegetables. The subjects completed a Mini Rhinoconjunctivitis Quality of Life Questionnaire as part of their clinical evaluation. The subjects with PFAS and those without PFAS were compared statistically. The subjects with PFAS had significantly larger-sized skin-prick test results specific to pollens (p allergic rhinitis and PFAS reported milder nasal symptoms in relation to pollen skin test result size when compared with allergic rhinitis controls without PFAS. Our study outlined basic differences between two seemingly similar patient groups with a particularly striking discordance between skin test result sizes and rhinitis symptoms. This discordance should be explored further to increase mechanistic understanding of allergen cross-reactivity in PFAS.

  6. Gene expression and metabolism preceding soft scald, a chilling injury of 'Honeycrisp' apple fruit.

    Science.gov (United States)

    Leisso, Rachel S; Gapper, Nigel E; Mattheis, James P; Sullivan, Nathanael L; Watkins, Christopher B; Giovannoni, James J; Schaffer, Robert J; Johnston, Jason W; Hanrahan, Ines; Hertog, Maarten L A T M; Nicolaï, Bart M; Rudell, David R

    2016-10-12

    'Honeycrisp' is an apple cultivar that is susceptible to soft scald, a chilling injury expressed as necrotic patches on the peel. Improved understanding of metabolism associated with the disorder would improve our understanding of soft scald and contribute to developing more effective management strategies for apple storage. It was expected that specific gene expression and specific metabolite levels in the peel would be linked with soft scald risk at harvest and/or specific time points during cold storage. Fruit from nine 'Honeycrisp' apple orchards that would eventually develop different incidences of soft scald between 4 and 8 weeks of cold air storage were used to contrast and determine differential transcriptomic and metabolomic changes during storage. Untargeted metabolic profiling revealed changes in a number of distinct pathways preceding and concurrent with soft scald symptom development, including elevated γ-aminobutryic acid (GABA), 1-hexanol, acylated steryl glycosides, and free p-coumaryl acyl esters. At harvest, levels of sesquiterpenoid and triterpenoid acyl esters were relatively higher in peel of fruit that did not later develop the disorder. RNA-seq driven gene expression profiling highlighted possible involvement of genes and associated metabolic processes with soft scald development. These included elevated expression of genes involved in lipid peroxidation and phenolic metabolism in fruit with soft scald, and isoprenoid/brassinosteroid metabolism in fruit that did not develop soft scald. Expression of other stress-related genes in fruit that developed soft scald included chlorophyll catabolism, cell wall loosening, and lipid transport while superoxide dismutases were up-regulated in fruit that did not develop the disorder. This study delineates the sequential transcriptomic and metabolomic changes preceding soft scald symptom development. Changes were differential depending on susceptibility of fruit to the disorder and could be attributed to

  7. Circumferential skin folds in a child: A case of Michelin tire baby syndrome

    Directory of Open Access Journals (Sweden)

    Palit Aparna

    2007-01-01

    Full Text Available A six-month-old girl who presented with dermatitis was found to have multiple, symmetric, deep, gyrate skin folds involving her trunk and similar circumferential lesions on her extremities since birth. She had a characteristic round face with hypertelorism, depressed nasal bridge, thin, down-turned vermillion border of upper lip and short neck. Skin biopsy demonstrated increased smooth muscle fibers in the deeper dermis. A diagnosis of Michelin tire baby syndrome was made. Clinical features, histopathology, differential diagnosis and prognosis of this rare disorder have been discussed.

  8. Skin lesions simulating blue toe syndrome caused by prolonged contact with a millipede

    Directory of Open Access Journals (Sweden)

    Augusto Scardazan Heeren Neto

    2014-04-01

    Full Text Available Venomous animals are those that, by means of a hunting and defense mechanism, are able to inject their prey with a toxic substance produced in their bodies, directly from specialized glands (e.g., tooth, sting, spur through which the poison passes. Millipedes are poisonous animals; they can be harmful to humans, and their effects usually manifest as erythematous, purpuric, and cyanotic lesions; local pain; and paresthesia. Here, we report a case of skin contact with a millipede for 6h resulting in skin lesions similar to blue toe syndrome.

  9. Basal cell carcinoma of the skin (part 1): epidemiology, pathology and genetic syndromes.

    Science.gov (United States)

    Correia de Sá, Tiago Ribeiro; Silva, Roberto; Lopes, José Manuel

    2015-11-01

    Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis. BCC associate with several genetic syndromes, of which basal cell nevus syndrome is the most common.

  10. Reversible and cachexia-associated feline skin fragility syndrome in three cats.

    Science.gov (United States)

    Furiani, Nicla; Porcellato, Ilaria; Brachelente, Chiara

    2017-10-01

    Feline skin fragility syndrome (FSFS) is an acquired disorder characterized by altered collagen production resulting in an extremely thin and fragile skin. FSFS is associated with diseases characterized by excessive steroidal hormones that can inhibit collagen synthesis. It is also described concomitantly with severe inflammatory, infectious or neoplastic conditions where the pathogenesis remains largely unknown. To describe three cases of FSFS in cats that become cachectic secondary to different causes without glucocorticoid involvement. To describe the histopathological features of connective tissue for both fragile skin and the skin after healing. All cats developed cachexia in less than two months (body condition score ranging from 1-1.5). Concomitant diseases were diagnosed in Case 1 (aspiration pneumonia due to mega-oesophagus) and Case 2 (feline immunodeficiency virus (FIV)). In Case 3, malnutrition was suspected as a primary cause. The main histological feature of fragile skin was an atrophic dermis with pale eosinophilic, thin and irregular collagen fibres with numerous red cores observed with Masson's stain. Elastic fibres were normal. Postrecovery histopathological findings at 11 (Case 1) and six months (Case 3) after diagnosis, indicated normalization of the collagen and of the whole skin as compared with controls. To the best of the authors' knowledge, this is the first report describing a reversible, nonsteroid-induced FSFS, associated with rapidly developing cachexia in cats. © 2017 ESVD and ACVD.

  11. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

    National Research Council Canada - National Science Library

    Harmsen, May-Britt; Azzarello-Burri, Silvia; García González, M Mar; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Müller, Dietmar; Rauch, Anita; Rossier, Eva; Seemanova, Eva; Spaich, Christiane; Steiner, Bernhard; Wieczorek, Dagmar; Zenker, Martin; Kutsche, Kerstin

    2009-01-01

    .... FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of HCCS in the majority of cases...

  12. Early childhood severe scalds in a developing country: A 3-year retrospective study

    Directory of Open Access Journals (Sweden)

    Pius Agbenorku

    2013-12-01

    Full Text Available The burns intensive care unit (BICU staff observed an increasing number of pediatric scald burn admissions as a result of increase injuries associated with the scald burns. A retrospective study was conducted to identify scalds demographics, etiologies, and mortality risk factors. This descriptive study comprised a total of 166 patients aged 0-5 years, who were admitted to the BICU of the Reconstructive Plastic Surgery and Burns Unit (RPSBU through the Accident and Emergency (A and E Centre of the Komfo Anokye Teaching Hospital (KATH from May 1 st 2009 to April 30 th 2012. Source of information was the BICU Computerized Database System. Data extracted included demographics as well as treatment methods and outcomes. The study population was 166; 92 (55.4% males and 74 (44.6% females. Scalds admissions were 141 (84.9%; 13 (9.2% of them died, 83 (58.9% discharged, and 45 (31.9% transferred-out to another burn ward and pediatric surgery ward in the hospital. Scald patients' demographics included 78 males (55.3% and 63 females (44.7%; mean age was 2.18 years. Mortality risk factors identified were age <3 years (P = 0.044; scalds from hot water (P = 0.033, total burns surface area >30% (P = 0.017, and multiple body parts affected (P = 0.049. The current study showed age, hot water, and Total Burns Surface Area (TBSA as risk factors of early childhood scalds. Education on scalds prevention targeting mothers/caregivers is needed to create awareness of the frequency, severity, and danger associated with pediatric scalds.

  13. Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts.

    Science.gov (United States)

    Korniszewski, L; Nowak, R; Oknińska-Hoffmann, E; Skórka, A; Gieruszczak-Białek, D; Sawadro-Rochowska, M

    2001-10-01

    Wiedemann-Rautenstrauch (neonatal progeroid) syndrome is an autosomal recessive condition with characteristic appearance of premature aging present at birth (aged face, natal teeth, and wrinkled skin). Other features of the syndrome are generalized lipoatrophy with specific fat accumulation in the lateral suprabuttock region, hypotrichosis, macrocephaly (pseudohydrocephalus), and mental retardation. We report on a new case that demonstrates all typical features of the syndrome. The girl is now 16 years and 10 months old and has had follow-up from birth. We measured terminal restriction fragment (TRF) length to evaluate whether the patient's premature aging process is accompanied by shortening of telomere length in her cultured fibroblasts. Mean TRF of 13.5 kb found in our patient's fibroblasts is not shortened as compared to that of normal fibroblasts. Our results differ from those observed in Hutchinson-Gilford progeria. Copyright 2001 Wiley-Liss, Inc.

  14. Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face

    Directory of Open Access Journals (Sweden)

    Ayumi Korekawa

    2015-07-01

    Full Text Available An 81-year-old Japanese man presented with dark blue papules and nodules on his face. There were multiple soft papules and nodules, dark blue in color, compressive, and ranging in size from 2 to 10 mm. A few similar lesions were seen on the patient's right dorsal second toe and right buccal mucosa. There were no skin lesions on his trunk and upper limbs. The patient's past history did not include gastrointestinal bleeding or anemia. Histopathological examination showed dilated vascular spaces lined by the normal epithelium extending beneath the dermis and into the subcutaneous fat. Endoscopy of the gastrointestinal tract to check for colon involvement was not performed. X-ray images of the limbs revealed no abnormalities in the bones or joints. Laboratory investigations did not show anemia. Although we failed to confirm a diagnosis by endoscopy, the skin lesions, histopathological findings, lack of abnormal X-ray findings, and the presence of oral lesions as a part of gastrointestinal tract guided the diagnosis of blue rubber bleb nevus syndrome (BRBNS. Skin lesions of BRBNS occur predominantly on the trunk and upper limbs. However, the present case showed multiple skin lesions predominantly on the face. Therefore, it is important for clinicians to know about a possible atypical distribution of skin lesions in BRBNS.

  15. Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

    Science.gov (United States)

    Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco; Venturini, Marina; Castori, Marco; Colombi, Marina

    2016-01-01

    Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci. In order to help in deciphering such a complex molecular background, we carried out a comprehensive immunofluorescence analysis and gene expression profiling in cultured skin fibroblasts from five women affected with JHS/EDS-HT. Protein study revealed disarray of several matrix structural components such as fibrillins, tenascins, elastin, collagens, fibronectin, and their integrin receptors. Transcriptome analysis indicated perturbation of different signaling cascades that are required for homeostatic regulation either during development or in adult tissues as well as altered expression of several genes involved in maintenance of extracellular matrix architecture and homeostasis (e.g., SPON2, TGM2, MMP16, GPC4, SULF1), cell-cell adhesion (e.g., CDH2, CHD10, PCDH9, CLDN11, FLG, DSP), immune/inflammatory/pain responses (e.g., CFD, AQP9, COLEC12, KCNQ5, PRLR), and essential for redox balance (e.g., ADH1C, AKR1C2, AKR1C3, MAOB, GSTM5). Our findings provide a picture of the gene expression profile and dysregulated pathways in JHS/EDS-HT skin fibroblasts that correlate well with the systemic phenotype of the patients. PMID:27518164

  16. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.

    Science.gov (United States)

    van der Horst, G T; van Steeg, H; Berg, R J; van Gool, A J; de Wit, J; Weeda, G; Morreau, H; Beems, R B; van Kreijl, C F; de Gruijl, F R; Bootsma, D; Hoeijmakers, J H

    1997-05-02

    A mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient. CSB-deficient mice exhibit all of the CS repair characteristics: ultraviolet (UV) sensitivity, inactivation of transcription-coupled repair, unaffected global genome repair, and inability to resume RNA synthesis after UV exposure. Other CS features thought to involve the functioning of basal transcription/repair factor TFIIH, such as growth failure and neurologic dysfunction, are present in mild form. In contrast to the human syndrome, CSB-deficient mice show increased susceptibility to skin cancer. Our results demonstrate that transcription-coupled repair of UV-induced cyclobutane pyrimidine dimers contributes to the prevention of carcinogenesis in mice. Further, they suggest that the lack of cancer predisposition in CS patients is attributable to a global genome repair process that in humans is more effective than in rodents.

  17. Multicenter study on the asymmetry of skin temperature in complex regional pain syndrome

    Science.gov (United States)

    Cho, Chan Woo; Nahm, Francis Sahngun; Choi, Eunjoo; Lee, Pyung-Bok; Jang, In-Ki; Lee, Chul Joong; Kim, Yong Chul; Lee, Sang Chul

    2016-01-01

    Abstract According to the International Association for the Study of Pain (IASP) and American Medical Association (AMA), the diagnostic criteria for complex regional pain syndrome (CRPS) require the presence of skin temperature asymmetry. In CRPS, it is generally accepted that the temperature of skin of affected limbs changes from warm to cold; however, in our clinical practice, we have experienced many cases with different thermographic characteristics. Therefore, we conducted a retrospective multicenter study that examined the distribution of skin temperature in patients with CRPS and skin temperature asymmetry versus symptom duration. Patients diagnosed with type 1 or 2 CRPS were recruited. After confirming CRPS according to the IASP diagnostic criteria, infrared thermographic images were evaluated for skin temperature differences (ΔT) between the affected and unaffected limbs. A total of 296 patients with CRPS were included in this study. The median duration of symptoms was 6 months and the mean ± standard deviation of ΔT was –0.72 ± 1.65°C. A skin temperature difference between bilateral limbs (|ΔT|) of 1°C or less was seen in 131 patients (44.3%); thus, these 131 patients did not meet the IASP criteria for CRPS. Further, cool skin temperature was not observed in 88 patients (29.7%), meaning that these patients did not meet the AMA criteria for CRPS. There was no correlation between the symptom duration and ΔT (Spearman's rho = –0.075, P = 0.196) and there was no significant difference in the average ΔT among the 4 symptom duration groups (0–3 months, 4–6 months, 7–12 months, >12 months, P = 0.08). In conclusion, a considerable proportion of the patients that participated in this study did not meet the thermal criteria set forth by the IASP and AMA. Further, there was no correlation between symptom duration and skin temperature difference. PMID:28033251

  18. Electroacupuncture at Zusanli Prevents Severe Scalds-Induced Gut Ischemia and Paralysis by Activating the Cholinergic Pathway

    Directory of Open Access Journals (Sweden)

    Huan Wang

    2015-01-01

    Full Text Available Severe burn injuries may result in gastrointestinal paralysis, and barrier dysfunction due to gut ischemia and lowered vagus excitability. In this study we investigate whether electroacupuncture (EA at Zusanli (ST36 could prevent severe scalds-induced gut ischemia, paralysis, and barrier dysfunction and whether the protective role of EA at ST36 is related to the vagus nerve. 35% burn area rats were divided into six groups: (a EAN: EA nonchannel acupoints followed by scald injury; (b EA: EA at ST36 after scald injury; (c VGX/EA: vagotomy (VGX before EA at ST36 and scald injury; (d VGX/EAN: VGX before EAN and scald injury; (e atropine/EA: applying atropine before scald injury and then EA at ST36; (f atropine/EAN: applying atropine before scald injury and then EA at nonchannel acupoints. EA at the Zusanli point significantly promoted the intestinal impelling ratio and increased the amount of mucosal blood flow after scald injury. The plasma diamine oxidase (DAO and intestinal permeability decreased significantly after scald injury in the EA group compared with others. However, EA after atropine injection or cervical vagotomy failed to improve intestinal motility and mucosa blood flow suggesting that the mechanism of EA may be related to the activation of the cholinergic nerve pathway.

  19. Biomedical Technologies in the Treatment of Skin and Soft Tissue Defects in Patients with Diabetic Foot Syndrome

    OpenAIRE

    Magomed D Dibirov; Rasul U Gadzhimuradov; Konstantin A Koreiba; Aidar R Minabutdinov

    2016-01-01

    The aim of our study was to investigate the effectiveness of collagen implants in the closure of tissue defects. We offer a method that enables us to avoid the drawbacks of autodermoplasty based on the free split-thickness skin graft. Materials and Methods: This paper describes all steps of treatment of skin and soft tissue defects in patients with diabetic foot syndrome (DFS), including ultrasonic cavitation (UC) with hydrosurgical debridement (HD) to remove necrotic debris, purulent p...

  20. Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.

    Science.gov (United States)

    Ong, Kim-Thanh; Plauchu, Henri; Peyrol, Simone; Roux, Elisabeth; Errazuriz, Elisabeth; Khau Van Kien, Philippe; Arbeille, Brigitte; Gaulier, Alain; Georgescou, Gabriela; Collignon, Patrick; Germain, Dominique P; Gaveau, Marie-Noëlle; Perdu, Jérôme; Laurent, Stéphane; Bruneval, Patrick; Boutouyrie, Pierre

    2012-06-01

    Vascular Ehlers-Danlos syndrome (vEDS) results from a mutation in the gene encoding alpha-1, type III pro-collagen (COL3A1) and confers fragility to skin, ligament and vascular tissue. We tested the value of skin biopsy for diagnosis of vEDS through an ultrastructure scoring procedure. Study design was a multicentric, case-control, blinded trial consisting of two phases: phase 1 was to identify an ultra-structure score providing the best discriminative value for vEDS and phase 2 was to replicate this result in a different population. We enrolled 103 patients, 66 cases defined through the revised nosology for Ehlers-Danlos syndromes and 37 control subjects selected from patients referred for other pathologies. Ultrastructure of extracellular matrix was read by three to five experienced pathologists blinded for diagnosis. We used the receiver operating curves and logistic regression analysis for ranking ultrastructure scores. We created a detailed description of lesions observed in vEDS patients with 27 items (coded 0 or 1). In the phase 1 (17 cases and 20 controls), abnormal fibroblast shape, presence of lysosomes in the fibroblast and abnormal basal lamina were found to be independent discriminative items. Addition of these three items (defining an ultrastructure score) had the best diagnosis value (area under the curve (AUC) = 0.96). In the phase 2 (49 cases, 17 controls), ultrastructure score provided odds ratio of 9.76 (95 % CI 2.91-32.78), and AUC of 0.90. The ultrastructure score of skin biopsy has predictive value for the diagnosis of vEDS. Presence of two or more signs (either abnormal fibroblast, presence of lysosomes in the fibroblast or abnormal basal lamina) is very evocative of vEDS.

  1. A Case Report: Red Skin Syndrome- as the Rebound Effect of Using a Long Term Potent Topical Corticosteroid

    Directory of Open Access Journals (Sweden)

    Cristine D. Octaviani

    2014-06-01

    Full Text Available 31 years old male suffered from a rare skin disorder, diagnosed of red skin syndrome. Seven years ago, symptoms was begun with a light itching on skin area of body as well as face, and visited a general practitioner, diagnosed of light allergic rhinitis. He was prescribed oral corticosteroid, methyl prednisolone 4 mg b.i.d and very potent topical corticosteroid, clobetasol. The symptoms was significantly disappeared and being rebound after stopping the prescription. To maintain this rebound effect, for seven years in on-off unhealed conditions, he used topical cream corticosteroid, clobetasol, that fully masked this worst rebound condition. When application of the topical cream was stopped, rebound effect relapsed and even red skin syndrome became worse than before. After 20 months of being fully stopped from corticosteroid, the symptoms finally slowly reduced. He almost fully recovered and had a normal life until now December 2013. By this case, we can learn that this red skin syndrome, resulted from side effect of corticosteroid, will be stopped by fully stopping administering orally or topically, and this will take quite long time for skin to recover.

  2. Tap water scalds among seniors and the elderly: socio-economics and implications for prevention.

    Science.gov (United States)

    Alden, Nicole E; Bessey, Palmer Q; Rabbitts, Angela; Hyden, Philip J; Yurt, Roger W

    2007-08-01

    Tap water scalds among those >or=60 years old are often attributed to physical impairments with aging. This study assesses socio-economics associated with tap water scalds among seniors and the elderly. Charts of patients admitted to an urban Burn Center between 7/00 and 6/04 for treatment of tap water scalds were reviewed. Demographics, injury details, co-morbidities, surgical interventions/critical care requirements, length of stay (LOS), disposition and related economics were reviewed. During the study period, 68 patients >or=60 years were hospitalized for treatment of these scalds. Mean age and burn size were 78+/-1 years and 7+/-0.9% TBSA. Over 98% of patients were admitted with pre-existing co-morbidities; 60% required ICU care for 40+/-5 days; 22% required mechanical ventilation and 71% required surgery. LOS was 34+/-4 days. Most patients received government assistance income. Pre-injury, 32% resided alone. Post-injury, 10% of patients returned home alone; mortality was 22%. Per patient hospital costs approximated $113,000. These findings report that tap water scalds result in significant morbidity, mortality and health care costs for local seniors and the elderly. Socio-economic factors play a significant role in these injuries and must be assessed when planning prevention efforts.

  3. Warm and cold complex regional pain syndromes: differences beyond skin temperature?

    Science.gov (United States)

    Eberle, T; Doganci, B; Krämer, H H; Geber, C; Fechir, M; Magerl, W; Birklein, F

    2009-02-10

    To investigate clinical differences in warm and cold complex regional pain syndrome (CRPS) phenotypes. CRPS represents inhomogeneous chronic pain conditions; approximately 70% patients with CRPS have "warm" affected limbs and 30% have "cold" affected limbs. We examined 50 patients with "cold" and "warm" CRPS (n = 25 in each group). Both groups were matched regarding age, sex, affected limb, duration of CRPS, and CRPS I and II to assure comparability. Detailed medical history and neurologic status were assessed. Moreover, quantitative sensory testing (QST) was performed on the affected ipsilateral and clinically unaffected contralateral limbs. Compared with patients who had warm CRPS, patients who had cold CRPS more often reported a history of serious life events (p CRPS, the incidence of CRPS-related dystonia was increased (p CRPS (p CRPS were characterized by mechanical hyperalgesia (p CRPS) are associated with different clinical findings, beyond skin temperature changes. This might have implications for the understanding of CRPS pathophysiology.

  4. Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

    Directory of Open Access Journals (Sweden)

    Cinzia Signorini

    2014-01-01

    Full Text Available Evidence of oxidative stress has been reported in the blood of patients with Rett syndrome (RTT, a neurodevelopmental disorder mainly caused by mutations in the gene encoding the Methyl-CpG-binding protein 2. Little is known regarding the redox status in RTT cellular systems and its relationship with the morphological phenotype. In RTT patients (n = 16 we investigated four different oxidative stress markers, F2-Isoprostanes (F2-IsoPs, F4-Neuroprostanes (F4-NeuroPs, nonprotein bound iron (NPBI, and (4-HNE PAs, and glutathione in one of the most accessible cells, that is, skin fibroblasts, and searched for possible changes in cellular/intracellular structure and qualitative modifications of synthesized collagen. Significantly increased F4-NeuroPs (12-folds, F2-IsoPs (7.5-folds NPBI (2.3-folds, 4-HNE PAs (1.48-folds, and GSSG (1.44-folds were detected, with significantly decreased GSH (−43.6% and GSH/GSSG ratio (−3.05 folds. A marked dilation of the rough endoplasmic reticulum cisternae, associated with several cytoplasmic multilamellar bodies, was detectable in RTT fibroblasts. Colocalization of collagen I and collagen III, as well as the percentage of type I collagen as derived by semiquantitative immunofluorescence staining analyses, appears to be significantly reduced in RTT cells. Our findings indicate the presence of a redox imbalance and previously unrecognized morphological skin fibroblast abnormalities in RTT patients.

  5. Anticardiolipine antibodies in skin and muscle eluates of patients with primary and secondary antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Z S Alekberova

    2004-01-01

    Full Text Available Objective. To detect anticardiolipin antibodies (АСА, anti-p2-GPl antibodies, C3 and C4 complement components in immune complexes including those containing АСА in skin and muscle eluates of pts with systemic lupus erythematosus (SLE and antiphospholipid syndrome (APS. Material and methods . In 7 pts (6 female and I male, 2 with primary APS, 3 with SLE+APS and 2 with SLE skin and muscle biopsies were taken. 6 from 7 pts had thrombotic complications. Eluates were obtained from frozen skin and skeletal muscle biopsies (size was 1,5x0,5 and 0,5x0,5 respectively. Because of small size of biopsies it was not possible to use traditional methods of tissue pounding such as sharp homogenization of tissues in homogenizers with pulverizing and subsequent process of freezing-unfreezing which lead to large protein loss and make impossible serological tissue analysis. Application of acid eluates method by T.E.W. Feltkamp and J,H. Boode of own modification allowed to minimize tissue protein loss and perform serological tissue analysis. Results. Serum of all 7 pts contained antiphospholipid antibodies - IgG-ACA in 3, combination of IgG- und IgM-ACA in 5. In 5 from 7 eluates lgG АСА exceeded 0,109 OO units were revealed. They contained СЗ, C4 and different protein products mostly immunoglobulines. Anti-(I2GP1 antiboddie;. were absent. Conclusion. For the first time presence of АСА in tissues of APS pts was showed which may be of particular interest in studying morphogenesis of local tissue disturbances with participation of immune complexes containing АСА.

  6. Using Syndromic Surveillance to Investigate Tattoo-Related Skin Infections in New York City.

    Science.gov (United States)

    Kotzen, Mollie; Sell, Jessica; Mathes, Robert W; Dentinger, Catherine; Lee, Lillian; Schiff, Corinne; Weiss, Don

    2015-01-01

    In response to two isolated cases of Mycobacterium chelonae infections in tattoo recipients where tap water was used to dilute ink, the New York City (NYC) Department of Health and Mental Hygiene conducted an investigation using Emergency Department (ED) syndromic surveillance to assess whether an outbreak was occuring. ED visits with chief complaints containing the key word "tattoo" from November 1, 2012 to March 18, 2013 were selected for study. NYC laboratories were also contacted and asked to report skin or soft tissue cultures in tattoo recipients that were positive for non-tuberculosis mycobacterial infection (NTM). Thirty-one TREDV were identified and 14 (45%) were interviewed to determine if a NTM was the cause for the visit. One ED visit met the case definition and was referred to a dermatologist. This individual was negative for NTM. No tattoo-associated NTM cases were reported by NYC laboratories. ED syndromic surveillance was utilized to investigate a non-reportable condition for which no other data source existed. The results were reassuring that an outbreak of NTM in tattoo recipients was not occurring. In response to concerns about potential NTM infections, the department sent a letter to all licensed tattoo artists advising them not to dilute tattoo ink with tap water.

  7. Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.

    Science.gov (United States)

    Kutsche, K; Werner, W; Bartsch, O; von der Wense, A; Meinecke, P; Gal, A

    2002-01-01

    The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority of the patients reported, the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, five male patients with MLS and 46,XX karyotype ("XX males") have been described. Here we report on the first male case with MLS and an XY complement. The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13 approximately 22.2p22.32 approximately 22.33)[49]/46,XY[271]. By fluorescence IN SITU hybridization (FISH), we showed that YAC 225H10 spans the breakpoint in Xp22.3. End-sequencing and database analysis revealed a YAC insert of at least 416 kb containing the genes HCCS and AMELX, and exons 2-16 of ARHGAP6. Molecular cytogenetic data suggest that the Xp22.3 inversion breakpoint is located in intron 1 of ARHGAP6, the gene encoding the Rho GTPase activating protein 6. Future molecular studies in karyotypically normal female MLS patients to detect submicroscopic rearrangements including the ARHGAP6 gene as well as mutation screening of ARHGAP6 in patients with no obvious chromosomal rearrangements will clarify the role of this gene in MLS syndrome. Copyright 2002 S. Karger AG, Basel

  8. [Expression of aquaporin-1 in myocardium of rats in the early stage after scald and its relationship with myocardial edema].

    Science.gov (United States)

    Li, Zhi-qing; Xiao, De-quan; Wang, Jia-han; Huang, Yue-sheng

    2013-06-01

    To investigate the changes in aquaporin-1 (AQP-1) expression in myocardium of scalded rats in early stage of a burn injury, and to analyze its relationship with myocardial edema. Thirty-six healthy Wistar rats were divided into normal control (n = 6, without scald) and scald (n = 30) groups according to the random number table. Rats in scald group were inflicted with 30%TBSA full-thickness scald on the back, and intraperitoneally injected with Ringer's solution for antishock treatment. Myocardium tissue from left ventricle and serum specimen in rats of scald group were collected at post scald hours (PSH) 2, 8, 12, 24, and 48 (with 6 rats at each time point). Myocardial water ratio was determined by dry-wet weight method. The distribution of AQP-1 protein in myocardium was observed with immunohistochemical staining. The expression of myocardial AQP-1 mRNA was assessed with quantitative real-time PCR. The serum content of cardiac troponin-I (cTnI) was determined with ELISA. The rats in normal control group were detected with above-mentioned method. Data were processed with one way analysis of variance and LSD test. Correlation analysis was performed between AQP-1 mRNA and myocardial water ratio, AQP-1 mRNA and the serum content of cTnI in scald group at each time point. Compared with that in normal control group, the myocardial water ratio in scald group was markedly increased during PSH 8-48 (P values all below 0.01), and it peaked at PSH 12 [(80.79 ± 0.12)%]. In both groups, AQP-1 was mainly expressed in endothelial cells of capillaries and pericellular membrane of myocardial cells. The expression of AQP-1 in scald group was markedly increased from PSH 2 to PSH 48. The expression of myocardial AQP-1 mRNA in scald group was markedly higher from PSH 2 to PSH 48 than that in normal control group (P values all below 0.01), and it peaked at PSH 12 [(6.2 ± 0.7)%]. The serum content of cTnI in scald group was obviously higher from PSH 2 to PSH 48 than that in normal

  9. Changes with time in skin temperature of the shoulders in healthy controls and a patient with shoulder-hand syndrome.

    Science.gov (United States)

    Koike, Yoichi; Sano, Hirotaka; Imamura, Itaru; Goto, Masako; Ooyama, Masamizu; Kita, Atushi

    2010-11-01

    Abnormal skin temperature in the shoulder is caused by various diseases. A thermography is unable to capture temperature changes over time. In contrast, a Thermocron is an effective measuring device to monitor temperature changes over time. The purposes of this study employing a Thermocron were to measure shoulder skin temperature over time in healthy subjects and to detect shoulder skin temperature abnormalities in a patient with shoulder-hand syndrome. Subjects comprised 10 healthy volunteers (20 shoulders; 4 men and 6 women, mean age 54 years). For measurements, a Thermocron was attached on both shoulders. Measurements were made from 21.00 to 07.00 the following morning at 15-minute intervals. Gradual difference in right and left shoulder skin temperature was observed with the timing of measurements but no significant difference was apparent, i.e. dominant side 34.9 ± 0.8°C, non-dominant side 34.9 ± 0.9°C (P = 0.28). Presentation of a case with shoulder-hand syndrome. A 54-year-old woman with the diagnosis of rotator cuff tear underwent surgical treatment of rotator cuff repair, but the pain of the operated shoulder persisted due to phase 1 shoulder-hand syndrome. In postoperative week 3, skin temperature measurement using Thermocrons demonstrated a significant decrease in temperature on the operated side (affected side 34.3 ± 0.4°C, healthy side 35.2 ± 0.3°C; P shoulder-hand syndrome using a Thermocron.

  10. Agents, mechanisms and clinical features of non-scald burns in children: A prospective UK study.

    Science.gov (United States)

    Johnson, E L; Maguire, S; Hollén, L I; Nuttall, D; Rea, D; Kemp, A M

    2017-09-01

    To inform childhood burn prevention by identifying demographics, clinical features and circumstances of unintentional non-scald burns. A prospective cross-sectional study was conducted across Cardiff, Bristol and Manchester, including six emergency departments, three minor injury units and one burns unit between 13/01/2013-01/10/2015. Data collected for children aged burn (scald, contact, flame, radiation, chemical, electrical, friction) included: demographics, circumstances of injury and clinical features. Scalds and burns due to maltreatment were excluded from current analysis. Of 564 non-scald cases, 60.8% were boys, 51.1% were burns affected one anatomical site. Contact burns accounted for 86.7% (489/564), 34.8% (137/394) of which were from objects placed at >0.6m and 76.5% (349/456) affected the hands. Hairstyling devices were the most common agent of contact burns (20.5%, 100/487); 34.1% (30/88) of hairstyling devices were on the floor. Of children aged 10-15 years, 63.7% (65/102), sustained contact burns of which 23.2% (13/56) were preparing food, and when burnt from hairstyling devices, 73.3% (11/15) were using them at the time of injury. Parents of toddlers must learn safe storage of hazardous items. Older children should be taught skills in safe cooking and hairstyling device use. Copyright © 2017 Elsevier Ltd and ISBI. All rights reserved.

  11. Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.

    Science.gov (United States)

    Scott, R J; Itin, P; Kleijer, W J; Kolb, K; Arlett, C; Muller, H

    1993-11-01

    Two brothers had a complex combination of two DNA repair disorders: Cockayne syndrome and xeroderma pigmentosum. This rare combination has previously been observed in only two other patients. The clinical signs shared by these two brothers and the two other previously described patients include severe sun sensitivity, freckling, diminished stature, hearing and movement impairment, and neurologic degeneration. Although defective UV-induced unscheduled DNA synthesis has been demonstrated (5% of normal), no skin cancers have appeared in these 38- and 41-year-old brothers, whereas skin cancers developed at a relatively early age in the two previously described patients who also had defective UV-induced unscheduled DNA synthesis.

  12. Role of the skin biopsy in the diagnosis of atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Magro, Cynthia M; Momtahen, Shabnam; Mulvey, Joseph Justin; Yassin, Aminah H; Kaplan, Robert B; Laurence, Jeffrey C

    2015-05-01

    Atypical hemolytic uremic syndrome (aHUS) is a prototypic thrombotic microangiopathy attributable to complement dysregulation. In the absence of complement inhibition, progressive clinical deterioration occurs. The authors postulated that a biopsy of normal skin could corroborate the diagnosis of aHUS through the demonstration of vascular deposits of C5b-9. Biopsies of normal skin from 22 patients with and without aHUS were processed for routine light microscopy and immunofluorescent studies. An assessment was made for vascular C5b-9 deposition immunohistochemically and by immunofluorescence. The biopsies were obtained primarily from the forearm and/or deltoid. Patients with classic features of aHUS showed insidious microvascular changes including loose luminal platelet thrombi, except in 2 patients in whom a striking thrombogenic vasculopathy was apparent in biopsied digital ulcers. Extensive microvascular deposits of the membrane attack complex/C5b-9 were identified, excluding 1 patient in whom eculizumab was initiated before biopsy. In 5 of the 7 patients where follow-up was available, the patients exhibited an excellent treatment response to eculizumab. Patients without diagnostic clinical features of aHUS failed to show significant vascular deposits of complement, except 2 patients with thrombotic thrombocytopenic purpura including 1 in whom a Factor H mutation was identified. In a clinical setting where aHUS is an important diagnostic consideration, extensive microvascular deposition of C5b-9 supports the diagnosis of either aHUS or a subset of thrombotic thrombocytopenic purpura patients with concomitant complement dysregulation; significant vascular C5b-9 deposition predicts clinical responsiveness to eculizumab.

  13. [Skin lesions and myelodysplastic syndrome as initial manifestations of biphenotypic acute leukemia].

    Science.gov (United States)

    Liu, Ying; Tang, Suo-Qin; Yang, Guang; Feng, Chen; Liu, Li-Zhen; Lei, Qi

    2007-10-01

    The aim of this study was to investigate the clinical, pathological and biological features of biphenotypic acute leukemia. The morphology of tumor cells was observed by bone marrow examination; the immunophenotype was assayed by flow cytometry and immunohistochemistry; the chromosomal aberrations were detected by conventional chromosomal analysis and RT-multiplex nested PCR. The results showed that extramedullary skin lesions and myelodysplasia occurred before the onset of overt disease. At the time of diagnosis, this case had more than 30% blasts in bone marrow with meningeal involvement. Large-sized tumor cells predominated morphologically over other cells. Flow cytometry revealed the co-expression of myeloid antigens (cMPO, CD33 and CD117) and T-lymphoid antigens (cCD3, CD5, CD7, dual expression of CD4 and CD8). Immunohistochemical staining showed that CD43 and CD99 were strong positive which define the earliest hematopoietic progenitors. Partial tandem duplication of the MLL gene could be detected with normal cytogenetic method. All above-mentioned results led to the diagnosis of biphenotypic acute leukemia. It is concluded that the biphenotypic acute leukemia is an uncommon type of leukemia which may be preceded by myelodysplastic syndrome and has aggressive clinical and biological behavior. Immunophenotype, cytogenetics and molecular analysis can contribute to early diagnosis of BAL and evaluation of prognosis.

  14. Starvation reduces allergen-induced skin wheal responses and plasma substance P and vasoactive intestinal peptide in patients with atopic eczema/dermatitis syndrome.

    Science.gov (United States)

    Kimata, H

    2002-10-01

    The effect of starvation on allergen-induced skin wheal responses and plasma neuropeptide levels was not previously reported. Starvation for 24 h reduces allergen-induced skin wheal responses and plasma levels of substance P and vasoactive intestinal peptide in patients with atopic eczema/dermatitis syndrome, but not in control subjects. These results may have implications for the pathophysiology of the atopic eczema/dermatitis syndrome.

  15. Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.

    Science.gov (United States)

    Wang, Fang; Zhao, Dan; Ding, Jie; Zhang, Hongwen; Zhang, Yanqin; Yu, Lixia; Xiao, Huijie; Yao, Yong; Zhong, Xuhui; Wang, Suxia

    2012-11-01

    A total of 209 unrelated patients of predominantly Han Chinese ethnicity and with X-linked Alport's syndrome, a clinically heterogeneous hereditary nephritis, were enrolled in the present study to evaluate the ability to make a clinical diagnosis and perform molecular genetics analysis using skin biopsy. A negative or mosaic α5(IV) chain staining in the epidermal basement membrane was detected in 86.2% of male and 93.5% of female patients. COL4A5 mutations were identified in 85% of male patients with a negative α5(IV) chain staining pattern in the epidermal basement membrane. With use of skin biopsy and immunostaining, 16.4% of our patients were diagnosed before 3 years of age, and the youngest was diagnosed at 1 year of age. COL4A5 mutations were detected in 22 patients with normal epidermal basement membrane staining for the α5(IV) chain. Analysis of COL4A5 cDNA fragments from skin fibroblasts yielded a mutation detection rate of 83%, which was particularly valuable for identification of cryptic splicing mutations. Furthermore, 83% of COL4A5 mutations identified in the present study were novel. Thus, skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome. Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  16. Presence of non-fibrillar amyloid beta protein in skin biopsies of Alzheimer's disease (AD), Down's syndrome and non-AD normal persons

    DEFF Research Database (Denmark)

    Wen, G Y; Wisniewski, H M; Blondal, H

    1994-01-01

    A total of 66 skin biopsies from persons with Alzheimer's disease (AD) or Down's syndrome (DS) and from persons without AD were used in this study. The age range was from 7 to 89 years. Positive immunoreactivity of skin biopsies to monoclonal antibody 4G8, which is reactive to amino acid residue 17...

  17. Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation

    Directory of Open Access Journals (Sweden)

    Chad J. Cooper

    2014-01-01

    Full Text Available Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL, eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple episodes of skin and lung infections (abscess with Staphylococcus aureus throughout his adult life. He had multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth. The IgE was elevated (>5000 IU/mL. Genetic mutation analysis revealed a mutation affecting the transactivation domain of the STAT3 gene. Conclusion. The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL. Hyper IgE syndrome is a genetic disorder that is either autosomal dominant or recessive. A definite diagnosis can be made with genetic mutation analysis, and in this case, it revealed a very rare finding of the transactivation domain STAT3 mutation. Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis in suspected cases.

  18. An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome.

    Science.gov (United States)

    Miller, Jennifer L; Angulo, Moris

    2014-02-01

    Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of behavioral characteristics including excessive interest in food, skin picking, difficulty with a change in routine, and obsessive and compulsive behaviors. Skin-picking can result in serious and potentially life-threatening infections. Recent evidence suggests that the excitatory neurotransmitter glutamate is dysregulated in obsessive-compulsive behaviors, and modulation of the glutaminergic pathway may decrease compulsive behaviors, such as recurrent hair pulling or skin-picking behaviors. N-acetylcysteine (NAC), a derivative of the amino acid cysteine, is thought to act either via modulation of NMDA glutamate receptors or by increasing glutathione in pilot studies. Thirty-five individuals with confirmed PWS (ages 5-39 years, 23 females/12 males) and skin-picking behavior for more than 1 year were treated with N-acetylcysteine (Pharma-NAC®) at a dose of 450-1,200 mg/day. Skin-picking symptoms and open lesions were assessed after 12 weeks of treatment by counting and measuring lesions before and after the medication. All 35 individuals had improvement in skin-picking behaviors. Ten (29%) individuals (six males and four females) did not have complete resolution of skin-picking behavior, but had significant reduction in the number of active lesions. Longer-term, placebo-controlled trials are needed to further assess the potential benefit of this treatment. © 2013 Wiley Periodicals, Inc.

  19. Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

    Directory of Open Access Journals (Sweden)

    Peter Johansen

    Full Text Available To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma development, 50 of which were diagnosed with FAMMM. It was observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*, or NM_002386:c.83_84insA (p.Asn29Glnfs*14 had significantly (p<0.001 lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average were darker than that of males (p<0.01. We conclude that MC1R variants are associated with quantitative skin colour in a lightly pigmented Danish population. We did not observe any association between any pigmentary marker and the FAMMM syndrome. We suggest that the genetics of FAMMM is not related to the genetics of the pigmentary pathway.

  20. Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

    DEFF Research Database (Denmark)

    Remvig, Lars; Duhn, Ph; Ullman, S

    2010-01-01

    extensibility. The present study aimed to assess skin signs by means of clinical and para-clinical methods. Methods: A total of 31 EDS patients and 28 healthy controls were examined blinded and in random order. Inter-examiner analysis of clinical tests for skin extensibility, consistency, scarring, and bruising...... was performed, followed by analyses of extensibility with the suction cup (SC), consistency with a soft tissue stiffness meter (STSM), and thickness with ultrasonography (US). Semi-quantitative assessment of skin extensibility in healthy controls was incorporated in the tests. Results: The clinical analyses...... with classical-type EDS and controls with respect to skin extensibility by SC (4.91 vs. 12.52 kPa/mm) and skin consistency by STSM (0.59 vs. 0.76 N). We found no difference in skin thickness. Conclusion: The reproducibility of the clinical skin tests was substantial to good, apart from the consistency...

  1. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, multiple myeloma and skin changes) with cranial vault plasmocytoma and the role of surgery in its management: a case report

    OpenAIRE

    Plata Bello, Julio; Garcia-Marin, Victor

    2013-01-01

    Introduction POEMS syndrome (an acronym of polyneuropathy, organomegaly, endocrinopathy, multiple myeloma and skin changes) is a paraneoplastic disorder related to an underlying plasma cell dyscrasia. The development of such a syndrome is rare and its association with calvarial plasmocytoma is even less common, with only two previous reported cases. We describe, in detail, an unusual presentation of cranial plasmocytoma associated with POEMS syndrome and briefly discuss the possible role of s...

  2. Bioactive compounds and antioxidant activity in scalded Jalapeño pepper industrial byproduct (Capsicum annuum).

    Science.gov (United States)

    Sandoval-Castro, Claudia Jaqueline; Valdez-Morales, Maribel; Oomah, B Dave; Gutiérrez-Dorado, Roberto; Medina-Godoy, Sergio; Espinosa-Alonso, L Gabriela

    2017-06-01

    Bioactive compounds and antioxidant activity were evaluated from industrial Jalapeño pepper byproducts and simulated non processed byproducts from two Mexican states (Chihuahua and Sinaloa) to determine their value added potential as commercial food ingredients. Aqueous 80% ethanol produced about 13% of dry extract of polar compounds. Total phenolic content increased and capsaicin and dihydrocapsaicin decreased on scalding samples (80 °C, 2 min) without affecting ascorbic acid. The major phenolic compounds, rutin, epicatechin and catechin comprised 90% of the total compounds detected by HPLC of each Jalapeño pepper byproducts. ORAC analysis showed that the origin and scalding process affected the antioxidant activity which correlated strongly with capsaicin content. Although scalding decreased capsaicinoids (up to 42%), phenolic content by (up to 16%), and the antioxidant activity (variable). Jalapeño pepper byproduct is a good source of compounds with antioxidant activity, and still an attractive ingredient to develop useful innovative products with potential food/non-food applications simultaneously reducing food loss and waste.

  3. Steam inhalation therapy: severe scalds as an adverse side effect

    Science.gov (United States)

    Baartmans, Martin; Kerkhof, Evelien; Vloemans, Jos; Dokter, Jan; Nijman, Susanne; Tibboel, Dick; Nieuwenhuis, Marianne

    2012-01-01

    Background Steam inhalation therapy is often recommended in the treatment of a common cold. However, it has no proven benefit and may in fact have serious adverse side effects in terms of burn injuries. Aim To quantify the human and economic costs of steam inhalation therapy in terms of burn injury. Design and setting A prospective database study of all patients admitted to the burn centres (Beverwijk, Groningen, Rotterdam) and the hospital emergency departments in the Netherlands. Method Number and extent of burn injuries as a result of steam inhalation therapy were analysed, as well as an approximation made of the direct costs for their medical treatment. Results Annually, on average three people are admitted to in one of the Dutch burn centres for burns resulting from steam inhalation therapy. Most victims were children, and they needed skin grafting more often than adults. The total direct medical costs for burn centre and emergency department treatment were €115 500 (£93 000), emotional costs are not reflected. Conclusion As steam inhalation therapy has no proven benefit and the number and extent of complications of this therapy in terms of burn injury are significant, especially in children, steam inhalation therapy should be considered a dangerous procedure and not recommended anymore in professional guidelines and patient brochures. PMID:22781995

  4. Steven johnsons syndrome and toxic epidermal necrolysis: A review

    Directory of Open Access Journals (Sweden)

    Sri ram Anne

    2014-12-01

    Full Text Available Toxic epidermal necrolysis (TEN and Stevens Johnson Syndrome (SJS are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. They are characterized by mucocutaneous tenderness and typically hemorrhagic erosions, erythema and more or less severe epidermal detachment presenting as blisters and areas of denuded skin. Drugs are assumed or identified as the main cause of SJS/TEN in most cases, but Mycoplasma pneumoniae and Herpes simplex virus infections are well documented causes alongside rare cases in which the etiology remains unknown. Several drugs are at "high" risk of inducing TEN/SJS including: Allopurinol, Trimethoprim-sulfamethoxazole and other sulfonamide-antibiotics, aminopenicillins, cephalosporins, quinolones, carbamazepine, phenytoin, phenobarbital and NSAID's of the oxicam-type. Differential diagnosis includes linear IgA dermatosis and paraneoplastic pemphigus, pemphigus vulgaris and bullous pemphigoid, acute generalized exanthematous pustulosis (AGEP, disseminated fixed bullous drug eruption and staphyloccocal scalded skin syndrome (SSSS. Due to the high risk of mortality, management of patients with SJS/TEN requires rapid diagnosis, identification and interruption of the culprit drug, specialized supportive care ideally in an intensive care unit, and consideration of immunomodulating agents such as high-dose intravenous immunoglobulin therapy.

  5. Enhancement of allergic skin wheal responses by microwave radiation from mobile phones in patients with atopic eczema/dermatitis syndrome.

    Science.gov (United States)

    Kimata, Hajime

    2002-12-01

    Microwave radiation from mobile phones enhanced skin wheal responses induced by house dust mite and Japanese cedar pollen while it had no effect on wheal responses induced by histamine in patients with atopic eczema/dermatitis syndrome (AEDS). Microwave radiation also increased plasma levels of substance P (SP) and vasoactive intestinal peptide (VIP) in patients with AEDS. These results indicate that microwave radiation from mobile phones may enhance allergen-induced wheal responses in association with the release of SP and VIP. This finding may be useful in elucidating the pathophysiology and treatment of AEDS. Copyright 2002 S. Karger AG, Basel

  6. Relationships between Irritable Bowel Syndrome Pain, Skin Temperature Indices of Autonomic Dysregulation, and Sensitivity to Thermal Cutaneous Stimulation

    Directory of Open Access Journals (Sweden)

    Fong Wong

    2010-01-01

    Full Text Available This study evaluated relationships between irritable bowel syndrome (IBS pain, sympathetic dysregulation, and thermal pain sensitivity. Eight female patients with diarrhea-predominant IBS and ten healthy female controls were tested for sensitivity to thermal stimulation of the left palm. A new method of response-dependent thermal stimulation was used to maintain pain intensity at a predetermined level (35% by adjusting thermal stimulus intensity as a function of pain ratings. Clinical pain levels were assessed prior to each testing session. Skin temperatures were recorded before and after pain sensitivity testing. The temperature of palmar skin dropped (1.5∘C when the corresponding location on the opposite hand of control subjects was subjected to prolonged thermal stimulation, but this response was absent for IBS pain patients. The patients also required significantly lower stimulus temperatures than controls to maintain a 35% pain rating. Baseline skin temperatures of patients were significantly correlated with thermode temperatures required to maintain 35% pain ratings. IBS pain intensity was not significantly correlated with skin temperature or pain sensitivity. The method of response-dependent stimulation revealed thermal hyperalgesia and increased sympathetic tone for chronic pain patients, relative to controls. Similarly, a significant correlation between resting skin temperatures and thermal pain sensitivity for IBS but not control subjects indicates that tonic sympathetic activation and a thermal hyperalgesia were generated by the chronic presence of visceral pain. However, lack of a significant relationship between sympathetic tone and ratings of IBS pain casts doubt on propositions that the magnitude of IBS pain is determined by psychological stress.

  7. Stevens-Johnson syndrome and toxic epidermal necrolysis: a review

    Directory of Open Access Journals (Sweden)

    Anthony Wong

    Full Text Available SUMMARY Stevens-Johnson syndrome (SJS and toxic epidermal necrolysis (TEN are uncommon, acute and potentially life-threatening adverse cutaneous drug reactions. These pathologies are considered a hypersensitivity reaction and can be triggered by drugs, infections and malignancies. The drugs most often involved are allopurinol, some antibiotics, including sulfonamides, anticonvulsants such as carbamazepine, and some non-steroid anti-inflammatory drugs (NSAIDs. Necrosis of keratinocytes is manifested clinically by epidermal detachment, leading to scalded skin appearance. The rash begins on the trunk with subsequent generalization, usually sparing the palmoplantar areas. Macular lesions become purplish, and epidermal detachment occurs, resulting in flaccid blisters that converge and break, resulting in extensive sloughing of necrotic skin. Nikolsky's sign is positive in perilesional skin. SJS and TEN are considered to be two ends of the spectrum of one disease, differing only by their extent of skin detachment. Management of patients with SJS or TEN requires three measures: removal of the offending drug, particularly drugs known to be high-risk; supportive measures and active interventions. Early diagnosis of the disease, recognition of the causal agent and the immediate withdrawal of the drug are the most important actions, as the course of the disease is often rapid and fatal.

  8. Need for Mechanical Ventilation in Pediatric Scald Burns: Why it Happens and Why it Matters.

    Science.gov (United States)

    Mosier, Michael J; Peter, Tony; Gamelli, Richard L

    2016-01-01

    Scald burns are the most common thermal injury among children. A small subset of pediatric scald burns are complicated by the need for mechanical ventilation (MV). Studies suggest that 4 to 5% of pediatric scald burns will require MV, and these patients tend to be younger with larger burns. Identifying why pediatric patients with scald burns require MV has remained unclear, and few studies have sought to elucidate possible mechanisms. After institutional review board approval, a retrospective review of all pediatric patients with scald burns admitted to the Burn Center between 2010 and 2013 was conducted. Variables collected included age, sex, weight, height, race, ethnicity, socioeconomic status or type of insurance, hospital length of stay, burn size and location, Department of Child and Family Services (DCFS) involvement, time to intubation from admission, reason for intubation, need for MV, duration of MV, need for operative intervention, 24-hour and 48-hour total fluid intake and urine output, glucose levels, infectious complications, comorbidities, and mortality. Patients who required MV were then compared with those who did not require MV to identify statistically significant differences between groups. The MV patients (n = 6) and nonventilated patients (n = 339) did not show significant differences in regards to gender, body mass index, ethnicity, and type of insurance; however, MV patients were younger and had larger burns. The mean age of MV patients was 8.2 + 5.0 months compared with 40.7 + 45.2 months for non-MV (P = .002). The mean percentage of TBSA burn in MV patients was 17.3 + 9.0% compared with 4.5 + 3.9% for non-MV (P Burn location was significant, and 66.6% of MV patients had burns on the face or neck compared with 23.6% of non-MV (P = .015). MV patients were more likely to have been victims of child abuse, as DCFS was involved in 67% of MV patients vs. 28% of non-MV patients (P = .036). Fifty percent of patients requiring MV had either a

  9. McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report.

    Science.gov (United States)

    Raus, Iulian; Coroiu, Roxana Elena

    2016-01-01

    McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune - Albright syndrome.

  10. Toksisk shock syndrom. Et tilfoelde hos et barn med forbroending

    DEFF Research Database (Denmark)

    Glazowski, M J; Ostergaard, G Z; Arpi, M

    1992-01-01

    A case of the toxic shock syndrome (TSS) in a burnt (scalded) child is presented. TSS is a condition most frequently associated with menstruating women using tampons. In recent years, however, increased knowledge of the syndrome has led to an increase in the number of reported cases associated...

  11. An unsuspected cause of meal-time morbidity: instant noodle scald burns.

    Science.gov (United States)

    Koltz, Peter F; Wasicek, Philip; Mays, Chester; Bell, Derek E

    2013-01-01

    Observational analysis revealed a concerning frequency of scald burns secondary to instant noodles. A literature review reveals studies with small sample sizes of pediatric populations and analysis of container engineering. The adult cohort, treatments, and short-term outcomes have been neglected. Considering these deficiencies, we reviewed our institution's experience with burns secondary to instant noodles. Patient encounters due to instant noodle burns from January 1, 2007, through May 15, 2011, were reviewed. Demographics, burn characteristics, treatment, length of stay, number of operative interventions, and complications were analyzed. Eight hundred fifty-two patients were seen (460 were admitted) for scald burns of all pathogenesis. Of these, 121 (14%) were seen for burns secondary to noodles (63 men and 58 women). Of these, 48 were older than age 4 (group 1), and 73 were younger than age 4 (group 2). TBSA was 2.34 in group 1 and 1.64 in group 2 (P = .04). The most commonly burned areas in group 1 were extremities (n = 43) and in group 2 were chest (n = 32) and extremities (n = 31). Seven patients in group 1 and two patients in group 2 required operative intervention. Length of stay in groups 1 and 2 were 3.5 and 6 days, respectively. Noodle scald burns cause morbidity at all ages. Pediatric burns due to noodles are frequently managed conservatively but more often necessitate inpatient treatment. The nonpediatric population has larger TBSA and requires more frequent operative intervention. The morbidity of noodle burns is significant. Increased public education and container re-engineering is warranted.

  12. Microscopic Aspects of Silicon-Mediated Rice Resistance to Leaf Scald.

    Science.gov (United States)

    Araujo, Leonardo; Paschoalino, Rayane Silva; Rodrigues, Fabrício Ávila

    2016-02-01

    This study investigated the effect of silicon (Si) on the potentiation of rice resistance against leaf scald at the microscopic level. Rice plants ('Primavera') were grown in a nutrient solution containing 0 (-Si) or 2 mM (+Si) Si. The foliar Si concentration of the +Si plants (3.6 dag/kg) increased in comparison with the -Si plants (0.3 dag/kg). An X-ray microanalysis revealed that the leaf tissue of +Si plants infected with Microdochium oryzae had higher peaks and deposition of insoluble Si than that of -Si plants. The high foliar Si concentration for the +Si plants reduced the expansion of leaf scald lesions. Scanning electron microscopy revealed that fungal hyphae and appressorium-like structures of M. oryzae were more abundant in the leaf surface of -Si plants relative to +Si plants. At both histopathological and ultrastructural levels, fungal hyphae grew abundantly into the leaf tissue of -Si plants. By contrast, rice cell walls were rarely degraded and fungal hyphae were often surrounded by amorphous granular material in the leaf tissue of +Si plants. Conidiophores emerged from stomata 36 h after fungal penetration, and conidia were noticed inside the leaf tissue of the -Si plants in great abundance. The collective results of the present study showed a high concentration and deposition of Si and a considerable deposition of phenolic-like compounds in the leaf tissue of +Si plants. These results indicate that the potentiation of the phenylpropanoid pathway in these plants supplied with Si was favorable for the increase in rice resistance to leaf scald.

  13. Epidemiologic study of scald burns in victims in Tehran burn hospital

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    Kamran Aghakhani

    2013-10-01

    Full Text Available Background: Damages caused by scald burns are common and can cause severe complications and death. The purpose of this study was to define risk groups and then methods of prevention and treatment is designed to fit. Methods: Data for this retrospective study of hospitalized patients in Shahid Motahari Hospital in Tehran from 2007-2011 were compiled. Data including age, sex, cause of burn, and degree of burn and ultimate fate of the victims were collected from scald burns. Burns caused by boiling water and hot food (Scald , in two age groups : 12 and under 12 years ( children and more than 12 years ( adults were compared in terms of statistics . Results: A total of 1150 patients consisting of males (57.9% and females (42.1% were studied. The most common age was 1 year old and 50% of patients were under 3 years of age. 87.9% burned with boiling water and 12.1% had experienced burns with hot food. Incentive to burn was 0.3% cross burning and 99.7% incident. A maximum number of burns in children 12 years and younger males (42.1% and a minimum number in men over 12 years (15.7% were observed. Mean percentage of burns was 11% in over 12 years group and 30.9% in 12 and under 12 years group. The average hospital stay was 11.4 days and the mortality rate was 4.8%. The final status of the patients was as fallows: full recovery 904 cases (78.6%, partial recovery 134 (11.7%, clearance with personal consent 41 (3.6%, death 55 (4.8% and 16 cases (3.1% were among other reasons. Conclusion: In general it can be said, scald burns incidence in individuals aged 12 and younger were more than the older ones and the mean of burns was lower in individuals with over 12 years old. There was a sexual preference for males under 12 years. Mortality rate in the two groups has not any statistically significant difference. There was no statistically significant association between sex and mortality rate. Some of our findings are depending on cultural, social and economic

  14. Epidemiology of paediatric burns in Lithuania: focus on a vulnerable population exposed to the risk of scalds at home without hot tap water supply.

    Science.gov (United States)

    Kubilius, Darius; Smailytė, Giedrė; Rimdeikienė, Inesa; Malcius, Dalius; Kaikaris, Vygintas; Rimdeika, Rytis

    2014-05-01

    To describe the epidemiology of paediatric burns in Lithuania, identify the trends of burn occurrence, the vulnerable population and aetiology. This study was based on all inclusive national information obtained from the National Health Insurance database for the period of 2001-2010. Information on the burns aetiology was collected in the Hospital of Lithuanian University of Heath Sciences Kauno Klinikos. 7146 children in the age group of 0-14 were hospitalized in Lithuania and constituted 44% of all admissions due to burns. The incidence among boys was 149.8 and among girls 99.9 per 100,000. The highest risk of burns was observed from 11 to 15 months of age. Scalding in 0-1 years age group composed 96% of all burns in this age group. Children younger than 2 years of age are a vulnerable population of burns in Lithuania. Scalding was main cause of their burns. The aetiological subgroups of scalding were scalding with hot drinks/food and scalding with hot water meant for household. The major part of scalding with hot drinks was due to scalding with parents' drinks. Scalding with hot water meant for household is associated with the lack of hot water supply. Copyright © 2013 Elsevier Ltd and ISBI. All rights reserved.

  15. Skin rash in the intensive care unit: Stevens-Johnson syndrome, toxic epidermal necrolysis, or a rare manifestation of a hidden cutaneous malignancy: A case report.

    Science.gov (United States)

    Al-Saffar, Farah; Ibrahim, Saif; Patel, Pujan; Jacob, Rafik; Palacio, Carlos; Cury, James

    2016-03-01

    Skin rashes are infrequently encountered in the intensive care units, either as a result or as a cause of admission. The entities of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) form a spectrum of desquamating skin diseases that have multiple etiologies, the most common being drug-related reactions; very rarely, the cause may be cutaneous malignancies. We herein present a unique case of a 54-year-old male patient with psoriasis treated with methotrexate, who presented with a cellulitis-like clinical picture, then developed a severe progressive systemic inflammatory response syndrome, and progressed clinically to SJS, then TEN even after discontinuing the antibiotics and methotrexate. A skin biopsy demonstrated an aggressive and rapidly-progressing T-cell lymphoma. The present case highlights the necessity of skin biopsy when encountering SJS and TEN in the ICU in order to identify potentially treatable/controllable causes. Although it appeared reasonable to correlate TEN solely to medications, the skin biopsies clearly demonstrated an aggressive T-cell skin lymphoma. In a patient with a better general condition it may have been helpful to treat this malignancy. TEN is a life-threatening condition and skin biopsy is the cornerstone of diagnosis, despite the presence of multiple risk factors and the typical physical findings of a drug-induced reaction.

  16. Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Niharika R Lal

    2015-01-01

    Full Text Available Proteus syndrome is a rare condition with a wide spectrum of abnormalities. It is characterized by hamartomatous malformations involving multiple organs. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms such as parotid adenomas, ovarian cystadenomas, and meningiomas. We report here a case of Proteus syndrome in a 21-year-old woman who had facial hemihypertrophy, cerebriform plantar hyperplasia, hemimegalencephaly, and meningioma for the rarity of the entity.

  17. Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.

    Science.gov (United States)

    Karmouch, Jennifer; Zhou, Qiong Q; Miyake, Christina Y; Lombardi, Raffaella; Kretzschmar, Kai; Bannier-Hélaouët, Marie; Clevers, Hans; Wehrens, Xander H T; Willerson, James T; Marian, Ali J

    2017-12-08

    Arrhythmogenic cardiomyopathy is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (junction protein plakoglobin) mutations are responsible for a subset of patients with arrhythmogenic cardiomyopathy who exhibit cardiac arrhythmias and dysfunction, palmoplanter keratosis, and hair abnormalities (cardiocutaneous syndromes). To determine phenotypic consequences of deletion of Dsp in a subset of cells common to the heart and skin. Expression of CSPG4 (chondroitin sulfate proteoglycan 4) was detected in epidermal keratinocytes and the cardiac conduction system. CSPG4pos cells constituted ≈5.6±3.3% of the nonmyocyte cells in the mouse heart. Inducible postnatal deletion of Dsp under the transcriptional control of the Cspg4 locus led to ventricular arrhythmias, atrial fibrillation, atrioventricular conduction defects, and death by 4 months of age. Cardiac arrhythmias occurred early and in the absence of cardiac dysfunction and excess cardiac fibroadipocytes, as in human arrhythmogenic cardiomyopathy. The mice exhibited palmoplantar keratosis and progressive alopecia, leading to alopecia totalis, associated with accelerated proliferation and impaired terminal differentiation of keratinocytes. The phenotype is similar to human cardiocutaneous syndromes caused by homozygous mutations in DSP. Deletion of Dsp under the transcriptional regulation of the CSPG4 locus led to lethal cardiac arrhythmias in the absence of cardiac dysfunction or fibroadiposis, palmoplantar keratosis, and alopecia, resembling the human cardiocutaneous syndromes. The findings offer a cellular basis for early cardiac arrhythmias in patients with arrhythmogenic cardiomyopathy and cardiocutaneous syndromes. © 2017 American Heart Association, Inc.

  18. Isoflavones inhibit poly(I:C)-induced serum, brain, and skin inflammatory mediators - relevance to chronic fatigue syndrome.

    Science.gov (United States)

    Vasiadi, Magdalini; Newman, Jennifer; Theoharides, Theoharis C

    2014-10-31

    Chronic Fatigue Syndrome (CFS) is a neuroimmunoendocrine disease affecting about 1% of the US population, mostly women. It is characterized by debilitating fatigue for six or more months in the absence of cancer or other systemic diseases. Many CFS patients also have fibromyalgia and skin hypersensitivity that worsen with stress. Corticotropin-releasing hormone (CRH) and neurotensin (NT), secreted under stress, activate mast cells (MC) necessary for allergic reactions to release inflammatory mediators that could contribute to CFS symptoms. To investigate the effect of isoflavones on the action of polyinosinic:polycytidylic acid (poly(I:C)), with or without swim stress, on mouse locomotor activity and inflammatory mediator expression, as well as on human MC activation. Female C57BL/6 mice were randomly divided into four groups: (a) control/no-swim, (b) control/swim, (c) polyinosinic:polycytidylic acid (poly(I:C))/no swim, and (d) polyinosinic:polycytidylic acid (poly(I:C))/swim. Mice were provided with chow low or high in isoflavones for 2 weeks prior to ip injection with 20 mg/kg poly(I:C) followed or not by swim stress for 15 minutes. Locomotor activity was monitored overnight and animals were sacrificed the following day. Brain and skin gene expression, as well as serum levels, of inflammatory mediators were measured. Data were analyzed using the non-parametric Mann-Whitney U-test. Poly(I:C)-treated mice had decreased locomotor activity over 24 hours, and increased serum levels of TNF-α, IL-6, KC (IL-8/CXCL8 murine homolog), CCL2,3,4,5, CXCL10, as well as brain and skin gene expression of TNF, IL-6, KC (Cxcl1, IL8 murine homolog), CCL2, CCL4, CCL5 and CXCL10. Histidine decarboxylase (HDC) and NT expression were also increased, but only in the skin, over the same period. High isoflavone diet reversed these effects. Poly(I:C) treatment decreased mouse locomotor activity and increased serum levels and brain and skin gene expression of inflammatory mediators

  19. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  20. Biomedical Technologies in the Treatment of Skin and Soft Tissue Defects in Patients with Diabetic Foot Syndrome

    Directory of Open Access Journals (Sweden)

    Magomed D Dibirov

    2016-03-01

    Full Text Available The aim of our study was to investigate the effectiveness of collagen implants in the closure of tissue defects. We offer a method that enables us to avoid the drawbacks of autodermoplasty based on the free split-thickness skin graft. Materials and Methods: This paper describes all steps of treatment of skin and soft tissue defects in patients with diabetic foot syndrome (DFS, including ultrasonic cavitation (UC with hydrosurgical debridement (HD to remove necrotic debris, purulent pellicle and bacterial biofilm, and an alternative technique for wound defect closure using high-tech biomaterials based on type I collagen (“Collost”, “Salvecoll”. Results: Use of type I collagen (“Collost”, “Salvecoll” as a component of combination treatment of tissue defects in DFS allowed us to increase the relative rate of wound healing, reduce the incidence of high-level amputations, and significantly reduce inpatient surgical coverage around the clock and speed up a patient's transfer to outpatient care. Conclusion: Ultrasonic cavitation with hydrosurgical debridement is the most effective procedure for wound preparation for closure. The use of bioplastic collagen materials in patients with DFS is the most effective solution in the management of wound defects.

  1. Pollen food allergy syndrome in Turkey: Clinical characteristics and evaluation of its association with skin test reactivity to pollens.

    Science.gov (United States)

    Özdemir, Seςil Kepil; Özgüςlü, Selcan

    2017-09-17

    There is limited data regarding pollen food allergy syndrome (PFAS) in Turkey. To investigate the clinical characteristics and possible risk factors of PFAS in Turkey, and to evaluate if there was an association between skin test reactivity to pollens and presence of PFAS. A total of 254 consecutive adult patients with pollen sensitivity were prospectively recruited. Patients were interviewed with a questionnaire including a list of pollen-associated foods. Patients were classified as having PFAS if they reported clear allergic symptoms compatible with PFAS. All participants underwent skin prick tests (SPT) to a panel of common aeroallergens, prick-to-prick tests with culprit fresh foods were performed in patients who gave consent. Self-reported PFAS was observed in 49 patients (19.3%). The most common culprit foods were kiwi, peach, tomato, melon and watermelon. Multiple logistic regression analysis showed that potential risk factors for PFAS were having asthma (OR=2.392, P=0.044) and tree pollen sensitization (OR=2.904, P=0.004). There were no significant differences in the SPT wheal sizes to individual pollen extracts between patients with and without PFAS with a positive SPT result for that pollen extract (P> 0.05). PFAS is frequent in pollen sensitized adults in Turkey. The most commonly implicated foods are kiwi, peach,tomato, melon and watermelon, in our geographical region. SPT wheal sizes to pollen extracts seems to be similar in patients with and without PFAS.

  2. Correlation of skin changes with hormonal changes in polycystic ovarian syndrome: A cross-sectional study clinical study

    Directory of Open Access Journals (Sweden)

    B Vijaya Gowri

    2015-01-01

    Full Text Available Background: Polycystic ovarian syndrome (PCOS is a heterogenous collection of signs and symptoms that when gathered, form a spectrum of disorder with disturbance of reproductive, endocrine and metabolic functions. Aim: The aim of this study is to correlate the skin manifestations with hormonal changes and to know the incidence and prevalence of skin manifestations in patients with PCOS. Materials and Methods: A total of 40 patients with PCOS were examined during 1 year time period from May 2008 P to May 2009. Detailed clinical history was taken from each patient. PCOS was diagnosed on the basis of ultrasonography. Hormonal assays included fasting blood sugar, postprandial blood sugar, follicle-stimulating hormone, luteinizing hormone, thyroid stimulating hormone, dehydroepiandrostenedione, prolactin, free testosterone, fasting lipid profile and sex hormone binding globulin. The results obtained were statistically correlated. Results: In our study, the prevalence of cutaneous manifestations was 90%. Of all the cutaneous manifestations acne was seen in highest percentage (67.5%, followed by hirsutism (62.5%, seborrhea (52.5%, androgenetic alopecia (AGA (30%, acanthosis nigricans (22.5% and acrochordons (10%. Fasting insulin levels was the most common hormonal abnormality seen in both acne and hirsutism, whereas AGA was associated with high testosterone levels. Conclusion: The prevalence of cutaneous manifestations in PCOS was 90%. Hirsutism, acne, seborrhea, acanthosis nigricans and acrochordons were associated with increased levels of fasting insulin, whereas AGA showed higher levels of serum testosterone.

  3. Correlation between symptoms of the irritable bowel syndrome and the response to the food extract skin prick test

    Directory of Open Access Journals (Sweden)

    R.L.S. Soares

    2004-05-01

    Full Text Available The relationship between the irritable bowel syndrome (IBS and food intolerance is not clear. We studied the cutaneous response to food antigens in 43 volunteers who were students and employees of the Faculty of Medicine of Universidade Federal Fluminense. Subjects were divided into 3 groups after evaluation for Roma II criteria for functional disease of the gastrointestinal tract: group I, 14 volunteers with IBS; group II, 15 volunteers with functional dyspepsia; group III, 14 volunteers without habitual gastrointestinal symptoms. The subjects were submitted to the skin prick test with 9 food antigen extracts, for a total of 387 skin tests (9 per volunteer. Of the 126 tests applied to group I, 24 (19.4% were positive (a 3-mm wider papule than the negative control and of the 135 tests applied to group II, 3 (2.3% were positive. Of the 126 tests applied to group III, 6 (4% were positive. The number of positive responses obtained in group I (IBS differed significantly from the other 2 groups (P < 0.01. None of the volunteers with IBS reported intolerance to any isolated food. The higher reactivity to food antigens in group I compared to groups II and III suggests that intestinal permeability may be increased in patients with IBS.

  4. Skin lesions in European hibernating bats associated with Geomyces destructans, the etiologic agent of white-nose syndrome.

    Directory of Open Access Journals (Sweden)

    Gudrun Wibbelt

    Full Text Available White-nose syndrome (WNS has claimed the lives of millions of hibernating insectivorous bats in North America. Its etiologic agent, the psychrophilic fungus Geomyces destructans, causes skin lesions that are the hallmark of the disease. The fungal infection is characterized by a white powdery growth on muzzle, ears and wing membranes. While WNS may threaten some species of North American bats with regional extinction, infection in hibernating bats in Europe seems not to be associated with significant mortality. We performed histopathological investigations on biopsy samples of 11 hibernating European bats, originating from 4 different countries, colonized by G. destructans. One additional bat was euthanized to allow thorough examination of multiple strips of its wing membranes. Molecular analyses of touch imprints, swabs and skin samples confirmed that fungal structures were G. destructans. Additionally, archived field notes on hibernacula monitoring data in the Harz Mountains, Germany, over an 11-year period (2000-2011 revealed multiple capture-recapture events of 8 banded bats repeatedly displaying characteristic fungal colonization. Skin lesions of G. destructans-affected hibernating European bats are intriguingly similar to the epidermal lesions described in North American bats. Nevertheless, deep invasion of fungal hyphae into the dermal connective tissue with resulting ulceration like in North American bats was not observed in the biopsy samples of European bats; all lesions found were restricted to the layers of the epidermis and its adnexae. Two bats had mild epidermal cupping erosions as described for North American bats. The possible mechanisms for any difference in outcomes of G. destructans infection in European and North American bats still need to be elucidated.

  5. Skin lesions in European hibernating bats associated with Geomyces destructans, the etiologic agent of white-nose syndrome.

    Science.gov (United States)

    Wibbelt, Gudrun; Puechmaille, Sébastien J; Ohlendorf, Bernd; Mühldorfer, Kristin; Bosch, Thijs; Görföl, Tamás; Passior, Karsten; Kurth, Andreas; Lacremans, Daniel; Forget, Frédéric

    2013-01-01

    White-nose syndrome (WNS) has claimed the lives of millions of hibernating insectivorous bats in North America. Its etiologic agent, the psychrophilic fungus Geomyces destructans, causes skin lesions that are the hallmark of the disease. The fungal infection is characterized by a white powdery growth on muzzle, ears and wing membranes. While WNS may threaten some species of North American bats with regional extinction, infection in hibernating bats in Europe seems not to be associated with significant mortality. We performed histopathological investigations on biopsy samples of 11 hibernating European bats, originating from 4 different countries, colonized by G. destructans. One additional bat was euthanized to allow thorough examination of multiple strips of its wing membranes. Molecular analyses of touch imprints, swabs and skin samples confirmed that fungal structures were G. destructans. Additionally, archived field notes on hibernacula monitoring data in the Harz Mountains, Germany, over an 11-year period (2000-2011) revealed multiple capture-recapture events of 8 banded bats repeatedly displaying characteristic fungal colonization. Skin lesions of G. destructans-affected hibernating European bats are intriguingly similar to the epidermal lesions described in North American bats. Nevertheless, deep invasion of fungal hyphae into the dermal connective tissue with resulting ulceration like in North American bats was not observed in the biopsy samples of European bats; all lesions found were restricted to the layers of the epidermis and its adnexae. Two bats had mild epidermal cupping erosions as described for North American bats. The possible mechanisms for any difference in outcomes of G. destructans infection in European and North American bats still need to be elucidated.

  6. Candidate biomarker discovery and selection for ‘Granny Smith' superficial scald risk management and diagnosis, poster board

    Science.gov (United States)

    Discovery of candidate biomarkers for superficial scald, a peel disorder that develops during storage of susceptible apple cultivars, is part of a larger project aimed at developing biomarker-based risk-management and diagnostic tools for multiple apple postharvest disorders (http://www.tfrec.wsu.ed...

  7. Microbiology and evisceration efficiency of broiler carcasses slaughtered and held up to 8 hours postmortem prior to scalding and defeathering

    Science.gov (United States)

    The implementation of on farm slaughter could eliminate potential animal welfare issues associated with cooping, transport, dumping, and shackling live broilers. This research evaluated evisceration efficiency and the microbiological implications of delaying scalding and defeathering for up to 8 h a...

  8. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.

    NARCIS (Netherlands)

    G.T.J. van der Horst (Gijsbertus); H. van Steeg (Harry); R.J.W. Berg (Rob); A.J. van Gool (Alain); J. de Wit (Jan); G. Weeda (Geert); H. Morreau (Hans); R.B. Beems (Rudolf); C.F. van Kreijl (Coen); F.R. de Gruijl (Frank); D. Bootsma (Dirk); J.H.J. Hoeijmakers (Jan)

    1997-01-01

    textabstractA mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient. CSB-deficient mice exhibit all of the CS repair characteristics: ultraviolet (UV) sensitivity, inactivation of

  9. Cool Runnings - an app-based intervention for reducing hot drink scalds: study protocol for a randomised controlled trial.

    Science.gov (United States)

    Burgess, J D; Cameron, C M; Watt, K; Kimble, R M

    2016-08-03

    Globally, burns are the fifth leading cause of non-fatal children's injuries, and the leading cause of childhood burns is hot beverage scalds. Although there have been a number of programmes aimed at preventing scalds in children, very few have specifically addressed hot beverage scalds, and fewer have reported a reduction in injury rates. In Australia, hot beverage scalds account for 18 % of all childhood burns - a figure that has remained constant for the past decade. Innovative new technologies, such as Smartphone applications (apps), present a novel way for delivering individual-level injury prevention messages. The low cost, scalability and broad reach make this technology an ideal channel for health interventions. One of the latest methods being used in health-related apps aimed at behaviour change is gamification. Gamification uses the gaming principles of rewards, competition and personalisation to engage participants and motivate them towards preferred behaviours. This intervention will use a Smartphone app-based platform that combines gamification and behaviour-change strategies to increase knowledge and awareness of hot beverage scald risks and burn first aid among mothers of young children. This is a two-group, parallel, single-blinded randomised control trial (RCT) to evaluate the efficacy of a Smartphone app-based injury prevention intervention. The primary outcome measure is change in knowledge. Change in knowledge is measured in three components: knowledge of correct burns first aid; knowledge of the main cause of burns/scalds in children aged 0-15yrs; knowledge of the main age group at risk for burns/scalds. The secondary outcome measures relate to the gamification methods, measuring participants frequency of engagement with the Cool Runnings app. Queensland-based mothers aged 18+ years who own a Smartphone and have at least one child aged 5-12 months are eligible to participate. To our knowledge, this is the first study to evaluate an app

  10. PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts.

    Directory of Open Access Journals (Sweden)

    Alexandre Valin

    Full Text Available Gorlin's or nevoid basal cell carcinoma syndrome (NBCCS causes predisposition to basal cell carcinoma (BCC, the commonest cancer in adult human. Mutations in the tumor suppressor gene PTCH1 are responsible for this autosomal dominant syndrome. In NBCCS patients, as in the general population, ultraviolet exposure is a major risk factor for BCC development. However these patients also develop BCCs in sun-protected areas of the skin, suggesting the existence of other mechanisms for BCC predisposition in NBCCS patients. As increasing evidence supports the idea that the stroma influences carcinoma development, we hypothesized that NBCCS fibroblasts could facilitate BCC occurence of the patients. WT (n = 3 and NBCCS fibroblasts bearing either nonsense (n = 3 or missense (n = 3 PTCH1 mutations were cultured in dermal equivalents made of a collagen matrix and their transcriptomes were compared by whole genome microarray analyses. Strikingly, NBCCS fibroblasts over-expressed mRNAs encoding pro-tumoral factors such as Matrix Metalloproteinases 1 and 3 and tenascin C. They also over-expressed mRNA of pro-proliferative diffusible factors such as fibroblast growth factor 7 and the stromal cell-derived factor 1 alpha, known for its expression in carcinoma associated fibroblasts. These data indicate that the PTCH1(+/- genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients.

  11. Social attention, affective arousal and empathy in men with Klinefelter syndrome (47,XXY): evidence from eyetracking and skin conductance.

    Science.gov (United States)

    van Rijn, Sophie; Barendse, Marjolein; van Goozen, Stephanie; Swaab, Hanna

    2014-01-01

    Individuals with an extra X chromosome (Klinefelter syndrome) are at risk for problems in social functioning and have an increased vulnerability for autism traits. In the search for underlying mechanisms driving this increased risk, this study focused on social attention, affective arousal and empathy. Seventeen adults with XXY and 20 non-clinical controls participated in this study. Eyetracking was used to investigate social attention, as expressed in visual scanning patterns in response to the viewing of empathy evoking video clips. Skin conductance levels, reflecting affective arousal, were recorded continuously during the clips as well. Empathic skills, i.e. participants' understanding of own and others' emotions in response to the clips was also assessed. Results showed reduced empathic understanding, decreased visual fixation to the eye region, but increased affective arousal in individuals with Klinefelter syndrome. We conclude that individuals with XXY tend to avoid the eye region. Considering the increased affective arousal, we speculate that this attentional deployment strategy may not be sufficient to successfully downregulate affective hyper-responsivity. As increased affective arousal was related to reduced empathic ability, we hypothesize that own affective responses to social cues play an important role in difficulties in understanding the feelings and intentions of others. This knowledge may help in the identification of risk factors for psychopathology and targets for treatment.

  12. Effect of DPA and 1-MCP on chemical compounds related to superficial scald of Granny Smith apples

    Energy Technology Data Exchange (ETDEWEB)

    Moggia, C.; Moya-Leon, M. A.; Pereira, M.; Yuri, J. A.; Lobos, G. A.

    2010-07-01

    Research was carried out to study the mode of action of diphenylamine (DPA) and 1-methylcyclopropene (1-MCP), on control of superficial scald of Granny Smith apples (Malus domestica Borkh.), and its relation with chemical compounds. Fruit was harvested from a commercial orchard in Chile, 182 and 189 days after full bloom and received the following treatments: DPA (2,000 ppm); 1-MCP (1.2 ppm) and control (no treatment). All fruit was stored for 4 or 6 months at 0 degree centigrade. A completely randomized factorial design was used (2 harvest dates by 3 post harvest treatments). Monthly measurements were made on maturity indices, ethylene production rate (EPR), scald related compounds [a-farnesene (AF), conjugated trienes (CT), total anti-oxidants (AO)], and cell membrane stability. Following 4 and 6 months of storage, plus 7 days at 20 degree centigrade, scald was evaluated. After 6 months, DPA-treated fruit, from both harvests, showed similar firmness, EPR and AO, compared to the control. However, AF and CT were lower, and cell membrane stability higher. Conversely, 1-MCP-treated fruit showed a noticeable EPR suppression and AF inhibition, along with higher firmness, lower CT and AO, compared to the control and DPA. Furthermore, cell membrane stability was superior to that of the control and similar to that of the DPA. Treated fruit (DPA and 1-MCP) showed an important reduction in scald compared to the control. The effect of 1-MCP on the investigated compounds and the reduction in scald, confirms that ethylene plays a major role on its development. (Author) 50 refs.

  13. Pediatric scalds: do cooking-related burns have a higher injury burden?

    Science.gov (United States)

    Bachier, Marielena; Hammond, Sarah E; Williams, Regan; Jancelewicz, Timothy; Feliz, Alexander

    2015-11-01

    Pediatric scald burns result in frequent emergency room visits and hospitalizations. We investigated whether cooking-related burns produce greater morbidity requiring more extensive care than noncooking burns. We performed a 6-y review at our free-standing children's hospital. Children aged burns were included. Demographics, injury pattern, treatment, and outcome (contractures and/or limited mobility and nonhealing and/or infected wounds) data were analyzed comparing cooking versus noncooking burns. The Mann-Whitney U test, a chi-square test, and the negative binomial were used to compare continuous, categorical, and count data between groups. Bivariate analysis was performed to identify risk factors among patients with adverse outcomes. We identified 308 patients; 262 (85%) cooking and 46 (15%) noncooking burns. Most patients were African-American males, with public insurance, and a median age of 2 y. Cooking burns preferentially occurred over the head, neck, and upper body; noncooking burns were distributed over the lower body (P  0.11). In subgroup analysis, semisolid and grease burns resulted in increased rates of wound contractures and/or limited mobility when compared with noncooking burns (P = 0.05 and P = 0.008, respectively). Patients with complications were more likely to have third degree burns and required more consults, longer hospitalization, and more surgical debridements and clinic visits. Most accidental scald burns occurred in young children during food preparation. Greater long-term morbidity was found in patients with semisolid and grease burns. This subset of children has a higher injury burden and requires extensive care in the acute and long-term setting. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.

    Directory of Open Access Journals (Sweden)

    Mia Olsson

    2011-03-01

    Full Text Available Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA signal for susceptibility to the periodic fever syndrome (p(raw = 2.3 × 10⁻⁶, p(genome = 0.01. Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2 gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA, a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p < 0.0001. When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation.

  15. Complications of Stevens-Johnson syndrome beyond the eye and skin.

    Science.gov (United States)

    Saeed, Hajirah; Mantagos, Iason S; Chodosh, James

    2016-02-01

    Ocular and cutaneous disease are common chronic sequelae of Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) and have been well described in the literature. Long-term complications affecting other organ systems have not been so well described. The purpose of this review article is to highlight non-ocular and non-cutaneous chronic complications of SJS/TEN. The PubMed database was searched for the keywords "Stevens-Johnson syndrome" and "toxic epidermal necrolysis" through September 1, 2014. Relevant articles were then reviewed in full. 138 articles in the English language were found that described chronic sequelae of SJS/TEN. Our search revealed six affected organ systems other than the eyes and integument, with chronic sequelae from SJS/TEN: respiratory, gastrointestinal/hepatic, oral, otorhinolaryngologic, gynecologic/genitourinary, and renal. Complications involving these organs systems appeared likely to reduce the quality of life for SJS/TEN survivors. SJS/TEN is a multi-organ disease requiring multidisciplinary care from a variety of specialists. Affected patients have complex hospital stays, and their quality of life may be severely impacted by multiple long-term complications. We believe that preventative care in the acute setting might limit the development and progression of many of the sequelae described above. Copyright © 2015 Elsevier Ltd and ISBI. All rights reserved.

  16. Stress vulnerability in adolescents with chronic fatigue syndrome: experimental study investigating heart rate variability and skin conductance responses.

    Science.gov (United States)

    Rimes, Katharine A; Lievesley, Kate; Chalder, Trudie

    2017-07-01

    Stress vulnerability has been implicated in adolescent chronic fatigue syndrome (CFS), but has rarely been investigated directly. This study compared psychological and physiological responses to a laboratory social performance task in adolescents with CFS with chronic illness (asthma) and healthy control groups. Adolescents with CFS (n = 60), adolescents with asthma (n = 31) and healthy adolescents (n = 78) completed questionnaires before and after a social performance task. Skin conductance responses (SCR; mean SCR and Max-Min) and heart rate variability (low frequency/high frequency; LF/HF and root mean square difference of successive RR intervals; RMSSD) was measured before, during and after the task. Baseline heart rate variability (HRV) (RMSSD) was significantly lower in the CFS and Asthma groups than the HC. During the speech, the CFS and Asthma groups had higher HRV (LF/HF) than the HC, adjusting for baseline LF/HF. Although the asthma group showed a subsequent reduction in HRV during recovery, the CFS group did not. Similarly, during recovery after the task, the CFS group showed a continued increase in skin conductance (Min-Max), unlike the Asthma and HC groups. Compared to control groups, adolescents with CFS expected to find the task more difficult, were more anxious beforehand and afterwards, rated it as more difficult, evaluated their performance more negatively and had lower observer ratings of performance. Parents of adolescents with CFS expected that their child would perform less well in the task than parents of control participants. Adolescents with CFS showed autonomic nervous system responses that are consistent with chronic stress vulnerability, difficulty coping with acute stress and slower recovery after acute stress. Self-report measures also indicated greater trait, pre- and posttask anxiety in the CFS group. © 2017 Association for Child and Adolescent Mental Health.

  17. Microphthalmia with linear skin defects syndrome (MLS): Characterization of the critical region and isolation of candidate genes

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, L.; Wapenaar, M.C.; Grillo, A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Microphthalmia with linear skin defects syndrome (MLS) is an X-linked male-lethal disorder characterized by abnormalities in the development of the eye, skin, and brain. We defined the MLS critical region through analysis of hybrid cell lines retaining various deletion breakpoints in Xp22, including cell lines from 17 female patients showing features of MLS. Using a combination of YAC cloning and long-range restriction analysis, the MLS candidate region was estimated to be 450-550 kb. A minimally overlapping cosmid contig comprised of 20 cosmid clones was subsequently developed in this region. These cosmids are currently being used to isolate expressed sequences using cross-species conservation studies and exon-trapping. An evolutionarily conserved sequence isolated from a cosmid within the critical region has been used to isolate several overlapping cDNAs from a human embryonic library. Northern analysis using these cDNA clones identified a 5.2 kb transcript in all tissues examined. Sequence analysis revealed a 777 base pair open reading frame encoding a putative 258 amino acid protein. Using the exon-trapping method, fifty-four putative exons have been isolated from fourteen cosmids within the critical region. The expression patterns of the genes containing these exons are being analyzed by polymerase chain reaction (PCR) using reverse-transcribed mRNA from several human tissues and primers corresponding to the exon sequences. Using this approach in combination with exon connection, we determined the four of the trapped exons belong to the same cDNA transcript, which is expressed in adult retina, lymphoblast, skeletal muscle, and fetal brain. To date, we have isolated and sequenced 1 kilobase of this gene, all of which appears to be open reading frame. Both of the genes isolated from the critical region are being analyzed as possible candidates for MLS.

  18. A patient with multiple skin tags, preauricular pit, limbal dermoid: Atypic Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Kıymet Handan Kelekci

    2014-09-01

    Full Text Available Congenital anomalies are common conditions in newborns. Major abnormalities give rise to serious structural and functional disorders, meanwhile minor anomalies mostly lead to cosmetic concerns. Minor congenital anomalies are seen in approximately 15-20% of healthy newborns and often occur in the face and hands. The prenatal recognition of minor anomalies is difficult and can be overlooked. However, the detection of minor anomalies can provide a clue in the diagnosis of important malformations. Sometimes, they are important in terms of their association with syndromes. In this article, we present the rare case of a patient with congenital minor anomaly accompanied by acrochordon in front of the ear, ear pits, limbal dermoid, hemangioma on the trunk and sacral dimple.

  19. Development of an autoimmune syndrome affecting the skin and internal organs in P-selectin glycoprotein ligand 1 leukocyte receptor-deficient mice.

    Science.gov (United States)

    Pérez-Frías, A; González-Tajuelo, R; Núñez-Andrade, N; Tejedor, R; García-Blanco, M J; Vicente-Rabaneda, E; Castañeda, S; Gamallo, C; Silván, J; Esteban-Villafruela, A; Cubero-Rueda, L; García-García, C; Muñoz-Calleja, C; García-Diez, A; Urzainqui, A

    2014-11-01

    To define and characterize the progression of the spontaneous autoimmune disease that develops in mice in the absence of the leukocyte adhesion receptor P-selectin glycoprotein ligand 1 (PSGL-1). Skin-resident immune cells from PSGL-1-deficient mice and C57BL/6 control mice of different ages were isolated and analyzed by flow cytometry. Biochemical parameters were analyzed in mouse serum and urine, and the presence of serum autoantibodies was investigated. Skin and internal organs were extracted, and their structure was analyzed histologically. Skin-resident innate and adaptive immune cells from PSGL-1(-/-) mice had a proinflammatory phenotype with an imbalanced T effector cell:Treg cell ratio. Sera from PSGL-1(-/-) mice had circulating autoantibodies commonly detected in connective tissue-related human autoimmune diseases. Biochemical and histologic analysis of skin and internal organs revealed skin fibrosis and structural and functional abnormalities in the lungs and kidneys. Furthermore, PSGL-1(-/-) mice exhibited vascular alterations, showing loss of dermal vessels, small vessel medial layer remodeling in the lungs and kidneys, and ischemic processes in the kidney that promote renal infarcts. Our study demonstrates that immune system overactivation due to PSGL-1 deficiency triggers an autoimmune syndrome with characteristics similar to systemic sclerosis, including skin fibrosis, vascular alterations, and systemic organ involvement. These results suggest that PSGL-1 expression contributes to the maintenance of the homeostasis of the immune system and could act as a barrier for autoimmunity in mice. Copyright © 2014 by the American College of Rheumatology.

  20. Exposure to road traffic enhances allergic skin wheal responses and increases plasma neuropeptides and neurotrophins in patients with atopic eczema/dermatitis syndrome.

    Science.gov (United States)

    Kimata, Hajime

    2004-01-01

    The effect of exposure to road traffic was studied by sitting on chairs for 30 min beside a road with heavy wheeled traffic. Exposure to road traffic enhanced allergen-induced, but not histamine-induced, skin wheal responses in 26 patients with atopic eczema/dermatitis syndrome, while it had no effect on skin wheal responses in 26 normal subjects. Exposure to road traffic also increased plasma levels of substance P, vasoactive intestinal peptide, nerve growth factor, and neurotrophin-3 in patients with atopic eczema/dermatitis syndrome, while it had no effect on these plasma parameters in normal subjects. Collectively, exposure to road traffic may aggravate allergic diseases by enhancing allergic responses with concomitant increase in plasma levels of neuropeptides and neurotrophins.

  1. Mutiple keratocystic odontogenic tumors (KCOT) in a patient with Gorlin syndrome: a case report with late presentation and absence of skin manifestations.

    Science.gov (United States)

    Hashmi, Atif Ali; Edhi, Muhammad Muzzammil; Faridi, Naveen; Hosein, Mervyn; Khan, Mehmood

    2016-07-22

    Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTCH gene. A 36 year old Asian patient presented with jaw swelling and pain. Radiographic examination revealed six cysts in maxilla and mandible which were excised and histologically were compatable with keratocystic odontogenic tumors. CT scan also revealed falx cerebral calcification which led to the diagnosis of Gorlin syndrome confirmed on genetic testing. There was no evidence of basal cell carcinoma and other manifestations of Gorlin syndrome were absent. Multiple KCOT are hallmark of Gorlin syndrome and should always leads to its suspicion even in the absence of other manifestations and late presentation. Moreover, keratocystic odontogenic tumors have a particularly higher risk of recurrence and patients with Gorlin syndrome are prone to develop additional keratocystic odontogenic tumors from basal cells of oral epithelium. Therefore we suggest a stepwise approach to manage such patients which include a preoperative biopsy to establish a definitive diagnosis and complete removal of all keratocystic odontogenic tumors to prevent recurrence followed by close clinical follow up and early removal of any newly developed or recurrent cyst. Additionally thorough clinical examination is necessary to rule out the possibility of Gorlin syndrome in any patient with keratocystic odontogenic tumors as there are only subtle differences in histology of those cysts with a syndromic association and clinical features of Gorlin syndrome are markedly variable. Hence late occurrence of keratocystic odontogenic tumors and absence of skin manifestations like basal cell carcinoma should not preclude a diagnosis of Gorlin syndrome.

  2. Predictive Value of Sympathetic Skin Response in Diagnosing Complex Regional Pain Syndrome: A Case-Control Study

    Science.gov (United States)

    Kim, Hyun Jung; Yang, Hea Eun; Kim, Dae Hyun

    2015-01-01

    Objective To investigate the predictive value of the sympathetic skin response (SSR) in diagnosing complex regional pain syndrome (CRPS) by comparing three diagnostic modalities-SSR, three-phasic bone scans (TPBS), and thermography. Methods Thirteen patients with severe limb pain were recruited. Among them, 6 were diagnosed with CRPS according to the proposed revised CRPS clinical diagnostic criteria described by the International Association for the Study of Pain. SSR was measured in either the hands or feet bilaterally and was considered abnormal when the latency was prolonged. A positive TPBS finding was defined as diffuse increased tracer uptake on the delayed image. Thermographic findings were considered positive if a temperature asymmetry greater than 1.00℃ was detected between the extremities. Results Five of 6 CRPS patients showed prolonged latency on SSR (83% sensitivity). TPBS was positive in the 5 CRPS patients who underwent TPBS (100% sensitivity). Thermography was positive in 4 of 5 CRPS patients who underwent the procedure (80% sensitivity). The remaining 7 non-CRPS patients differed on examination. SSR latencies within normal limit were noted in 4 of 7 non-CRPS patients (57% specificity). Results were negative in 4 of 5 non-CRPS patients who underwent TPBS (80% specificity), and negative in 3 of 5 non-CRPS patients who underwent thermography (60% specificity). Conclusion SSR may be helpful in detecting CRPS. PMID:25750880

  3. The mechanism of inhibition of beta-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls.

    Science.gov (United States)

    Glasgow, J F; Middleton, B; Moore, R; Gray, A; Hill, J

    1999-05-31

    The effects of aspirin metabolites on beta-oxidation were studied in skin fibroblasts from eight typical Reye's syndrome (RS) patients and controls. RS patients' cells did not differ from controls in rates of palmitate oxidation or in the three component activities of the mitochondrial trifunctional enzyme (MTE), indicating no inherited beta-oxidation defect. Aspirin metabolites salicylate, hydroxyhippurate and gentisate, but not aspirin, directly inhibited palmitate oxidation in control and RS cells. RS cells were significantly more sensitive to inhibition than controls at 0.5 to 5 mM salicylate. Inhibition was concentration-dependent and reversible. Inhibition did not occur in fibroblasts lacking activity of the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity of MTE. Salicylate was therefore inhibiting beta-oxidation at this step. Hydroxyhippurate and salicylate reversibly inhibited HAD activities in extracts of control and RS cells. Studies with pure short-chain HAD and LCHAD (MTE) showed hydroxyhippurate and salicylate were competitive inhibitors of the former but mixed (not competitive) inhibitors of the latter. Both compounds inhibited the combined, three-step, MTE reaction measured in the physiological direction. We conclude that (1) salicylate and hydroxyhippurate decrease beta-oxidation in intact cells by reversible inhibition of LCHAD activity of the MTE, and (2) beta-oxidation in RS cells is inherently more sensitive to inhibition by low concentrations of salicylate than controls.

  4. Evaluation of the Sympathetic Skin Response to the Dry Needling Treatment in Female Myofascial Pain Syndrome Patients.

    Science.gov (United States)

    Ozden, Ali Veysel; Alptekin, Hasan Kerem; Esmaeilzadeh, Sina; Cihan, Cem; Aki, Semih; Aksoy, Cihan; Oncu, Julide

    2016-07-01

    The aim of this study was to evaluate sympathetic nervous system (SNS) activity following dry needling (DN) treatment, by using the sympathetic skin response (SSR) method in female patients diagnosed with myofascial pain syndrome (MPS). Twenty-nine MPS patients with trapezius muscle pain and 31 healthy subjects were included in this study. During a single treatment session, DN treatment was applied into trigger points, for a duration of 10 minutes. Healthy patients were subjected to SSR in weeks 1 and 4; whereas the patient group was subjected to SSR 1 week prior to their treatment and in the first, second, third and fourth weeks following the completion of their treatment. We found diminished latency on both sides. A significantly high algometer measurement (P pain threshold (PPT) (P 0.05). DN is an effective treatment in MPS and trigger point (TP). This original study is the first to deal with the SSR in MPS and weekly SSR trailing, requiring further investigation to solidy findings.

  5. Scald burns in children aged 14 and younger in Australia and New Zealand—an analysis based on the Burn Registry of Australia and New Zealand (BRANZ).

    Science.gov (United States)

    Riedlinger, Dorothee I; Jennings, Paul A; Edgar, Dale W; Harvey, John G; Cleland, Ms Heather J; Wood, Fiona M; Cameron, Peter A

    2015-05-01

    Scalds are a common injury in children and a frequent reason for hospitalisation despite being a preventable injury. This retrospective two year study reports data from 730 children aged 14 years or younger who sustained a scald between 2009 and 2010 and were admitted to a burns centre in Australia or New Zealand. Data were extracted from the Burn Registry of Australia and New Zealand (BRANZ), which included data from 13 burns centres in Australia and New Zealand. Scald injury contributed 56% (95% CI 53-59%) of all pediatric burns. There were two high risk groups; male toddlers age one to two, contributing 34% (95% CI 31-38%) of all scalds, and indigenous children who were over 3 times more likely to experience a scald requiring admission to a burns unit than their non-indigenous peers. First aid cooling by non-professionals was initiated in 89% (95% CI 86-91%) of cases but only 20% (95% CI 16-23%) performed it as recommended. This study highlights that effective burn first aid reduces hospital stay and reinforces the need to encourage, carers and bystanders to deliver effective first aid and the importance of targeted prevention campaigns that reduce the burden of pediatric scald burns in Australia and New Zealand. Copyright © 2014 Elsevier Ltd and ISBI. All rights reserved.

  6. Inducible satellite cell depletion attenuates skeletal muscle regrowth following a scald-burn injury.

    Science.gov (United States)

    Finnerty, Celeste C; McKenna, Colleen F; Cambias, Lauren A; Brightwell, Camille R; Prasai, Anesh; Wang, Ye; El Ayadi, Amina; Herndon, David N; Suman, Oscar E; Fry, Christopher S

    2017-11-01

    Severe burns result in significant skeletal muscle cachexia that impedes recovery. Activity of satellite cells, skeletal muscle stem cells, is altered following a burn injury and likely hinders regrowth of muscle. Severe burn injury induces satellite cell proliferation and fusion into myofibres with greater activity in muscles proximal to the injury site. Conditional depletion of satellite cells attenuates recovery of myofibre area and volume following a scald burn injury in mice. Skeletal muscle regrowth following a burn injury requires satellite cell activity, underscoring the therapeutic potential of satellite cells in the prevention of prolonged frailty in burn survivors. Severe burns result in profound skeletal muscle atrophy; persistent muscle atrophy and weakness are major complications that hamper recovery from burn injury. Many factors contribute to the erosion of muscle mass following burn trauma, and we have previously shown concurrent activation and apoptosis of muscle satellite cells following a burn injury in paediatric patients. To determine the necessity of satellite cells during muscle recovery following a burn injury, we utilized a genetically modified mouse model (Pax7 CreER -DTA) that allows for the conditional depletion of satellite cells in skeletal muscle. Additionally, mice were provided 5-ethynyl-2'-deoxyuridine to determine satellite cell proliferation, activation and fusion. Juvenile satellite cell-wild-type (SC-WT) and satellite cell-depleted (SC-Dep) mice (8 weeks of age) were randomized to sham or burn injury consisting of a dorsal scald burn injury covering 30% of total body surface area. Both hindlimb and dorsal muscles were studied at 7, 14 and 21 days post-burn. SC-Dep mice had >93% depletion of satellite cells compared to SC-WT (P injury induced robust atrophy in muscles located both proximal and distal to the injury site (∼30% decrease in fibre cross-sectional area, P injury induced skeletal muscle regeneration, satellite

  7. A preliminary survey of molecular factors involved in apple (Malus Domestica Borkh. CV Granny Smith) superficial scald development

    OpenAIRE

    Zonin, Elisabetta

    2014-01-01

    Apple storage in controlled atmosphere (CA) can increase the marketing window of apples but at the same time it is an expensive practice and on the basis of cultivar, season, harvest time and storage condition (low O2, low/high CO2, low temperature) apples can develop different physiological disorders. It appears as a darkened area due to necrosis of hypodermal cells especially in Granny Smith and Red Delicious cultivars. Superficial scald annually causes the major economic loss to apple grow...

  8. Viral Skin Diseases.

    Science.gov (United States)

    Ramdass, Priya; Mullick, Sahil; Farber, Harold F

    2015-12-01

    In the vast world of skin diseases, viral skin disorders account for a significant percentage. Most viral skin diseases present with an exanthem (skin rash) and, oftentimes, an accompanying enanthem (lesions involving the mucosal membrane). In this article, the various viral skin diseases are explored, including viral childhood exanthems (measles, rubella, erythema infectiosum, and roseola), herpes viruses (herpes simplex virus, varicella zoster virus, Kaposi sarcoma herpes virus, viral zoonotic infections [orf, monkeypox, ebola, smallpox]), and several other viral skin diseases, such as human papilloma virus, hand, foot, and mouth disease, molluscum contagiosum, and Gianotti-Crosti syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, multiple myeloma and skin changes) with cranial vault plasmocytoma and the role of surgery in its management: a case report.

    Science.gov (United States)

    Plata Bello, Julio; Garcia-Marin, Victor

    2013-10-18

    POEMS syndrome (an acronym of polyneuropathy, organomegaly, endocrinopathy, multiple myeloma and skin changes) is a paraneoplastic disorder related to an underlying plasma cell dyscrasia. The development of such a syndrome is rare and its association with calvarial plasmocytoma is even less common, with only two previous reported cases. We describe, in detail, an unusual presentation of cranial plasmocytoma associated with POEMS syndrome and briefly discuss the possible role of surgery in the management of this disease. We present the case of a 45-year-old Caucasian man who was admitted to our department presenting with progressive weakness in his lower limbs, enlarged lymph nodes and a large mass on the scalp with intense bone erosion. POEMS criteria were present and pathological studies confirmed a Castleman's variant plasmocytoma. Clinical status improved noticeably after the excision of the plasmocytoma and the treatment was completed with radiotherapy and steroid pulse therapy. Cranial vault plasmocytoma and its association with POEMS syndrome are rare conditions with few previously reported cases. Although the role of surgery is not clearly defined in POEMS syndrome guidelines, the fact that there seems to be a better prognosis and clinical outcome when surgery is used as a part of the management in POEMS syndrome with cranial vault plasmocytoma is worth discussing.

  10. Sjogren's Syndrome

    Science.gov (United States)

    ... the set located behind your jaw and in front of your ears Skin rashes or dry skin Vaginal dryness Persistent dry cough Prolonged fatigue Causes Sjogren's syndrome is an autoimmune disorder. Your immune system mistakenly ...

  11. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  12. Characteristics of adult scald burn patients-a single center study in western Kanagawa Prefecture.

    Science.gov (United States)

    Morita, S; Higami, S; Aoki, H; Yamagiwa, T; Akieda, K; Inokuchi, S

    2011-05-01

    Burns sustained in bathtubs are a social and medical problem in Japan, especially among the elderly. Between October 2003 and March 2009, 22 adult scald burn patients (men, 17; average age, 65.3 ± 21.2 years) were transferred to Tokai University. In this study, we investigated the characteristics of these patients, and compared clinical parameters among patients with burns sustained in a bathtub (n = 10) and those with burns sustained due to other causes (n = 12). The average percentage total body surface area (%TBSA), dermal and deep burn area, and abbreviated burn severity index (ABSI) were 27.6 ± 23.8, 19.9 ± 20.5%, 7.8 ± 13.1%, and 7.7 ± 3.1, respectively. All patients in the bathtub burn group were elderly, 6 developed internal diseases, 3 had alcohol-related burns, and 4 died. Additionally, their %TBSA and ABSI were higher than those of the non-bathtub burn group patients. Burns sustained in bathtubs were more severe than those sustained due to other causes. The bathtub-related burn patients were elderly, and their burns were extensive and deep; hence, they were at a higher risk of developing internal diseases. Thus, introduction of safer bathing styles and bath systems will decrease incidences of bathtub-related burns. Copyright © 2010 Elsevier Ltd and ISBI. All rights reserved.

  13. Regressing Multiple Viral Plaques and Skin Fragility Syndrome in a Cat Coinfected with FcaPV2 and FcaPV3

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    Alberto Alberti

    2015-01-01

    Full Text Available Feline viral plaques are uncommon skin lesions clinically characterized by multiple, often pigmented, and slightly raised lesions. Numerous reports suggest that papillomaviruses (PVs are involved in their development. Immunosuppressed and immunocompetent cats are both affected, the biological behavior is variable, and the regression is possible but rarely documented. Here we report a case of a FIV-positive cat with skin fragility syndrome and regressing multiple viral plaques in which the contemporary presence of two PV types (FcaPV2 and FcaPV3 was demonstrated by combining a quantitative molecular approach to histopathology. The cat, under glucocorticoid therapy for stomatitis and pruritus, developed skin fragility and numerous grouped slightly raised nonulcerated pigmented macules and plaques with histological features of epidermal thickness, mild dysplasia, and presence of koilocytes. Absolute quantification of the viral DNA copies (4555 copies/microliter of FcaPV2 and 8655 copies/microliter of FcaPV3 was obtained. Eighteen months after discontinuation of glucocorticoid therapy skin fragility and viral plaques had resolved. The role of the two viruses cannot be established and it remains undetermined how each of the viruses has contributed to the onset of VP; the spontaneous remission of skin lesions might have been induced by FIV status change over time due to glucocorticoid withdraw and by glucocorticoids withdraw itself.

  14. Survey of skin pigmentation of yellow-skinned broiler chickens.

    Science.gov (United States)

    Sirri, F; Petracci, M; Bianchi, M; Meluzzi, A

    2010-07-01

    The appearance of whole carcass and skin-on cut-up products is an important attribute that deeply affects the consumer's choice. Skin pigmentation is affected mainly by genetics, concentration and dietary source of pigments, health status of the birds, and scalding-plucking conditions during slaughtering, although other factors might play an important role. Retailers request batches of broiler chicken carcasses characterized by uniform skin pigmentation to be sold as whole carcass or parts. The aim of this study was to evaluate the variability of skin color of yellow-skinned broilers reared under intensive conditions. For the study, a total of 2,300 medium size broiler chickens (2,300 to 2,500 g of live weight) from 23 flocks (100 birds/flock; n = 12 flocks of males and n = 11 flocks of females; n = 12 flocks of Ross 508 and n = 11 flocks of Ross 308) were randomly selected in a single slaughterhouse. The color measurements were carried out on both breast and thigh pterylae as well as on shank skin adopting the L* a* b* system and using a Minolta colorimeter CR 300. The overall range in measured yellowness (b*) was fairly large for all skin color measurement positions. For breast, a mean value of 22.77 (SD = 5.12) was observed, with values ranging from 7.45 to 39.12. Average values of thigh and shank were 20.23 (SD = 5.02; range 1.99 to 37.82) and 53.99 (SD = 8.13; range 24.22 to 78.65), respectively. A higher skin yellowness was observed in females in all body parts as well as in Ross 308. Yellowness values of breast and thigh were significantly correlated (r = 0.85; P < 0.01), suggesting that the color evaluation may be carried out only on one measurement position of the skin.

  15. Suckling reduces allergic skin responses and plasma levels of neuropeptide and neurotrophin in lactating women with atopic eczema/dermatitis syndrome.

    Science.gov (United States)

    Kimata, Hajime

    2003-12-01

    Lactation is associated with an inhibited hypothalamic-pituitary-adrenal axis response to physical and psychological stress in women and female rats. However, suckling also improved mood and calmness in nonatopic lactating women. Relaxation by humor reduced allergen-induced skin wheal responses, while various forms of stress enhanced those responses in allergic patients. Moreover, enhancement and reduction in allergen-induced skin wheal responses are associated with up- and down-regulation of plasma levels of substance P (SP) and vasoactive intestinal peptide (VIP), respectively. In addition, plasma levels of SP, VIP and nerve growth factor (NGF), but not neurotrophin-3 (NT-3), are elevated in allergic patients. Therefore, the effects of suckling on allergic responses and plasma levels of neuropeptides and neurotrophins were studied in lactating women with atopic eczema/dermatitis syndrome (AEDS). Before and after suckling, allergic skin responses to allergens were studied by skin prick test; simultaneously plasma levels of substance P, vasoactive intestinal peptide, nerve growth factor and neurotrophin-3 were measured in lactating women with atopic eczema/dermatitis syndrome. Suckling reduces allergen-induced, but not histamine-induced, skin wheal responses, while holding infants without suckling failed to do so. Suckling also reduced plasma levels of SP, VIP and NGF, but not NT-3 in these patients, while holding infants without suckling failed to do so. These results indicate that suckling reduces allergic responses with a concomitant reduction in plasma levels of SP, VIP and NGF. Collectively, suckling may have some implication in the study of maternal allergy in atopic patients. Copyright 2003 S. Karger AG, Basel

  16. Kindler syndrome

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    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  17. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  18. Pathophysiological Study of Sensitive Skin

    National Research Council Canada - National Science Library

    Buhé, Virginie; Vié, Katell; Guéré, Christelle; Natalizio, Audrey; Lhéritier, Céline; Le Gall-Ianotto, Christelle; Huet, Flavien; Talagas, Matthieu; Lebonvallet, Nicolas; Marcorelles, Pascale; Carré, Jean-Luc; Misery, Laurent

    2016-01-01

    Sensitive skin is a clinical syndrome characterized by the occurrence of unpleasant sensations, such as pruritus, burning or pain, in response to various factors, including skincare products, water...

  19. Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis (SJS/TEN): Could Retinoids Play a Causative Role?

    Science.gov (United States)

    Mawson, Anthony R.; Eriator, Ike; Karre, Sridhar

    2015-01-01

    Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are overlapping manifestations on a spectrum of acute drug-induced conditions associated with severe blistering, skin peeling, and multi-organ damage. TEN is an eruption resembling severe scalding, with ≥30% skin detachment. SJS is a mild form of TEN, characterized histologically by epidermal keratinocyte apoptosis with dermo-epidermal separation and extensive small blisters with syndrome can be induced by numerous medications and typically occurs 1–4 weeks after the initiation of therapy. Granulysin is found in the lesions of patients with SJS/TEN and plays a significant pathogenic role in the condition, but the overall mechanisms linking medications, granulysin, and disease manifestations remain obscure. This paper reviews evidence suggesting that the different medications implicated in SJS/TEN have the common property of interacting and synergizing with endogenous retinoids (vitamin A and its congeners), in many instances causing the latter to accumulate in and damage the liver, the main storage organ for vitamin A. It is hypothesized that liver damage leads to the spillage of toxic retinoid compounds into the circulation, resulting in an endogenous form of hypervitaminosis A and cytotoxicity with widespread apoptosis, mediated by granulysin and recognized as SJS/TEN. Subject to testing, the model suggests that symptom worsening could be arrested at onset by lowering the concentration of circulating retinoids and/or granulysin via phlebotomy or plasmapheresis or by pharmacological measures to limit their expression. PMID:25579087

  20. Ehlers-Danlos Syndrome

    Science.gov (United States)

    ... skinned people, the underlying blood vessels are very visible through the skin. Ehlers-Danlos syndrome, vascular type, ... history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from ...

  1. Expression of Endothelial Nitric Oxide Synthase and Endothelin-1 in Skin Tissue from Amputated Limbs of Patients with Complex Regional Pain Syndrome

    Directory of Open Access Journals (Sweden)

    J. George Groeneweg

    2008-01-01

    Full Text Available Background and Objectives. Impaired microcirculation during the chronic stage of complex regional pain syndrome (CRPS is related to increased vasoconstriction, tissue hypoxia, and metabolic tissue acidosis in the affected limb. Endothelial dysfunction is suggested to be the main cause of diminished blood flow. The aim of this study was to examine the distribution of endothelial nitric oxide synthase (eNOS and endothelin-1(ET-1 relative to vascular density represented by the endothelial marker CD31-immunoreactivity in the skin tissue of patients with chronic CRPS. Methods. We performed immunohistochemical staining on sections of skin specimens obtained from the amputated limbs (one arm and one leg of two patients with CRPS. Results. In comparison to proximal specimens we found an increased number of migrated endothelial cells as well as an increase of eNOS activity in distal dermis specimens. Conclusions. We found indications that endothelial dysfunction plays a role in chronic CRPS.

  2. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

    Directory of Open Access Journals (Sweden)

    Hannah L Bader

    2010-09-01

    Full Text Available Musladin-Lueke Syndrome (MLS is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, a major component of tissue microfibrils. The objective of this work was to determine the genetic basis of MLS and the molecular consequence of the identified mutation.We mapped the locus for MLS by genome-wide association to a 3.05 Mb haplotype on canine chromosome 9 (CFA9 (50.11-54.26; p(raw T; p.R221C perfectly associated with MLS (p-value=10(-12. Murine ADAMTSL2 containing the p.R221C mutation formed anomalous disulfide-bonded dimers when transiently expressed in COS-1, HEK293F and CHO cells, and was present in the medium of these cells at lower levels than wild-type ADAMTSL2 expressed in parallel.The genetic basis of MLS is a founder mutation in ADAMTSL2, previously shown to interact with latent TGF-β binding protein, which binds fibrillin-1. The molecular effect of the founder mutation on ADAMTSL2 is formation of disulfide-bonded dimers. Although caused by a distinct mutation, and having a milder phenotype than human GD, MLS nevertheless offers a new animal model for study of GD, and for prospective insights on mechanisms and pathways of skin fibrosis and joint contractures.

  3. [Efficacy observation on application of negative pressure therapy in the treatment of superficial partial-thickness scald wound in children].

    Science.gov (United States)

    Shen, Chuan-an; Chai, Jia-ke; Tuo, Xiao-ye; Cai, Jian-hua; Li, Dong-jie; Zhang, Lin; Zhu, Hua; Cai, Jin-dong

    2013-02-01

    To observe the effect of negative pressure therapy in the treatment of superficial partial-thickness scald in children. Three hundred and seven children with superficial partial-thickness scald hospitalized from August 2009 to May 2012 were divided into negative pressure therapy group (NPT, n = 145) and control group (C, n = 162) according to the random number table. Patients in group NPT were treated with negative pressure from within post injury day (PID) 3 to PID 9 (with -16 kPa pressure), while traditional occlusive dressing method was used in group C. Changes in body temperature, wound healing condition, frequency of dressing change were compared between group NPT and group C. Bacterial culture results of wounds were compared before and after treatment in group NPT. Volume of drained transudate per one percent of wound area was recorded in group NPT on PID 1 to PID 3. Data were processed with t test or chi-square test. The incidence of high fever was significantly lower in group NPT (26.9%, 39/145) than in group C (63.6%, 103/162, χ(2) = 41.419, P PID 9, complete wound epithelization was observed in 138 patients in group NPT, and in 7 patients there were a few residual wounds which healed after dressing change for 2 days. The wound healing time of patients in group NPT [(9.2 ± 0.6) d] was obviously shorter than that in group C [(10.1 ± 1.6) d, t = 6.895, P PID 1, 2, and 3. NPT can decrease times of dressing change, and alleviate infection and inflammatory response by drainage of transudate, which promotes wound healing at last. NPT is proved to be a safe and effective approach for treatment of children with superficial partial-thickness scald.

  4. Green Nail Syndrome

    Science.gov (United States)

    ... Derm App Skin Facts Aging and Sun Damage Beauty Myths Preventing Sun Damage Skin Cancer Detection Skin ... doubt, a nail sample can be taken for culture. Green nail syndrome responds well to treatment. Therapy ...

  5. Multicenter study on the asymmetry of skin temperature in complex regional pain syndrome: An examination of temperature distribution and symptom duration.

    Science.gov (United States)

    Cho, Chan Woo; Nahm, Francis Sahngun; Choi, Eunjoo; Lee, Pyung-Bok; Jang, In-Ki; Lee, Chul Joong; Kim, Yong Chul; Lee, Sang Chul

    2016-12-01

    According to the International Association for the Study of Pain (IASP) and American Medical Association (AMA), the diagnostic criteria for complex regional pain syndrome (CRPS) require the presence of skin temperature asymmetry. In CRPS, it is generally accepted that the temperature of skin of affected limbs changes from warm to cold; however, in our clinical practice, we have experienced many cases with different thermographic characteristics. Therefore, we conducted a retrospective multicenter study that examined the distribution of skin temperature in patients with CRPS and skin temperature asymmetry versus symptom duration.Patients diagnosed with type 1 or 2 CRPS were recruited. After confirming CRPS according to the IASP diagnostic criteria, infrared thermographic images were evaluated for skin temperature differences (ΔT) between the affected and unaffected limbs.A total of 296 patients with CRPS were included in this study. The median duration of symptoms was 6 months and the mean ± standard deviation of ΔT was -0.72 ± 1.65°C. A skin temperature difference between bilateral limbs (|ΔT|) of 1°C or less was seen in 131 patients (44.3%); thus, these 131 patients did not meet the IASP criteria for CRPS. Further, cool skin temperature was not observed in 88 patients (29.7%), meaning that these patients did not meet the AMA criteria for CRPS. There was no correlation between the symptom duration and ΔT (Spearman's rho = -0.075, P = 0.196) and there was no significant difference in the average ΔT among the 4 symptom duration groups (0-3 months, 4-6 months, 7-12 months, >12 months, P = 0.08).In conclusion, a considerable proportion of the patients that participated in this study did not meet the thermal criteria set forth by the IASP and AMA. Further, there was no correlation between symptom duration and skin temperature difference.

  6. [Effect of mitochondrial apoptosis on pulmonary fibrosis in rats with severe scald injury].

    Science.gov (United States)

    Zhang, X L; Chai, J K; Li, B L; Ma, L; Yin, K N; Zhang, D H; Feng, R

    2016-05-31

    To explore the role of mitochondrial apoptosis on pulmonary fibrosis in rats with severe scald injury. According to the random digital table, a total number of 32 Wistar rats were divided into 4 groups: sham burn (group A), burn group (group B), 12-week post burn recovery group (group C), and 12-week post burn recovery plus a second burn injury group (group D). In group A and group B, lung tissues were harvested on post burn day 4. After received first burn injury 12 weeks, the group C and group D received separately a second sham burn injury and burn injury. Lung tissues were harvested on post burn day 4 after the second burn injury. All tissues were examined for cells apoptosis by Terminal-deoxynucleoitidyl Transferase Mediated Nick End Labeling (TUNEL). Pulmonary fibrosis was assessed by Masson trichrome staining and Sirius red staining. The protein expression levels of cleaved Caspase-3, Bax and Bcl-2 were assessed by Western blot. Both Masson trichrome staining and Sirius red staining showed obvious pulmonary fibrosis in group C and group D. The apoptosis rates of group B, C and D were significantly higher than that in group A ((15.50±3.30)%, (7.88±3.10)%, (15.88±3.23)% vs (2.10±1.07)%, all P<0.05). Compared to group A, cleaved Caspase-3 levels were significantly higher in group B, C and D ((0.59±0.11), (0.33±0.08), (0.73±0.13) vs (0.16±0.05), all P<0.05). The ratio of Bax/Bcl-2 in group B, C and D also increased significantly ((2.08±0.30), (0.83±0.09), (1.54±0.12) vs (0.64±0.05), all P<0.05). Severe burn injury can induce pulmonary fibrosis and mitochondrial apoptosis may play an important role in the development of pulmonary fibrosis.

  7. McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

    Science.gov (United States)

    RAUS, IULIAN; COROIU, ROXANA ELENA

    2016-01-01

    McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome. PMID:27857528

  8. Enhancement of allergic skin wheal responses in patients with atopic eczema/dermatitis syndrome by playing video games or by a frequently ringing mobile phone.

    Science.gov (United States)

    Kimata, H

    2003-06-01

    Playing video games causes physical and psychological stress, including increased heart rate and blood pressure and aggression-related feelings. Use of mobile phones is very popular in Japan, and frequent ringing is a common and intrusive part of Japanese life. Atopic eczema/dermatitis syndrome is often exacerbated by stress. Stress increases serum IgE levels, skews cytokine pattern towards Th2 type, enhances allergen-induced skin wheal responses, and triggers mast cell degranulation via substance P, vasoactive intestinal peptide and nerve growth factor. (1). In the video game study, normal subjects (n = 25), patients with allergic rhinitis (n = 25) or atopic eczema/dermatitis syndrome (n = 25) played a video game (STREET FIGHTER II) for 2 h. Before and after the study, allergen-induced wheal responses, plasma levels of substance P, vasoactive intestinal peptide and nerve growth factor, and in vitro production of total IgE, antihouse dust mite IgE and cytokines were measured. (2). In the mobile phone study, normal subjects (n = 27), patients with allergic rhinitis (n = 27) or atopic eczema/dermatitis syndrome (n = 27) were exposed to 30 incidences of ringing mobile phones during 30 min. Before and after the study, allergen-induced wheal responses, plasma levels of substance P, vasoactive intestinal peptide and nerve growth factor were measured. Playing video games had no effect on the normal subjects or the patients with allergic rhinitis. In contrast, playing video games significantly enhanced allergen-induced skin wheal responses and increased plasma levels of substance P, vasoactive intestinal peptide and nerve growth factors in the patients with atopic eczema/dermatitis syndrome. Moreover, playing video games enhanced in vitro production of total IgE and anti-house dust mite IgE with concomitant increased production of IL-4, IL-10 and IL-13 and decreased production of IFN-gamma and IL-12 in the patients with atopic eczema/dermatitis syndrome. However, exposure

  9. Does insulin resistance co-exist with glucocorticoid resistance in the metabolic syndrome? Studies comparing skin sensitivity to glucocorticoids in individuals with and without acanthosis nigricans

    Directory of Open Access Journals (Sweden)

    Teelucksingh Surujpal

    2012-03-01

    Full Text Available Abstract Background The metabolic syndrome is associated with increased risk for both diabetes and coronary artery disease, which insulin resistance alone does not satisfactorily explain. We propose an additional and complementary underlying mechanism of glucocorticoid resistance. Results Using acanthosis nigricans (AN and skin vasoconstrictor (SVC response to topically applied beclomethasone dipropionate as markers of insulin and glucocorticoid resistance, respectively, we compared anthropometric, biochemical, pro-inflammatory markers and the SVC response in subjects with AN in two studies: STUDY 1 was used to compare subjects with AN (Grade 4, n = 32, with those without AN (n = 68 while STUDY 2 compared these responses among a cross-section of diabetic patients (n = 109 with varying grades of AN (grade 0, n = 30; grade 1, n = 24; grade 2, n = 18; grade 3, n = 25; grade 4, n = 12. Findings In both studies there was an inverse relationship between AN Grade 4 and the SVC response, (P Conclusion An absent SVC response represents a new biomarker for the metabolic syndrome and the exaggerated inflammatory response, which characterizes the metabolic syndrome, may be an outcome of deficient glucocorticoid action in vascular tissue.

  10. Total skin electron beam and non-myeloablative allogeneic hematopoietic stem-cell transplantation in advanced mycosis fungoides and Sezary syndrome.

    Science.gov (United States)

    Duvic, Madeleine; Donato, Michele; Dabaja, Bouthaina; Richmond, Heather; Singh, Lotika; Wei, Wei; Acholonu, Sandra; Khouri, Issa; Champlin, Richard; Hosing, Chitra

    2010-05-10

    Transformed mycosis fungoides (MF) and Sézary syndrome (SS) are currently incurable. We studied the safety and efficacy of total skin electron beam with allogeneic hematopoietic stem-cell transplantation (HSCT) in patients with cutaneous T-cell lymphoma (CTCL). Nineteen patients with advanced CTCL (median age, 50 years; four prior therapies) underwent total skin electron beam radiation followed by allogeneic HSCT between July 2001 and July 2008. Sixteen patients were conditioned with fludarabine (125 mg/m(2)) and melphalan (140 mg/m(2)) plus thymoglobulin (for mismatched donors). Graft-versus-host disease (GVHD) prophylaxis was with tacrolimus/mini methotrexate. Eighteen patients experienced engraftment, and one died as a result of sepsis on day 16. Median time to recovery of absolute neutrophil count (ANC) was 12 days. Fifteen achieved full donor chimerism, 12 had acute GVHD, and 12 were treated for chronic GVHD. The overall intent-to-treat response was 68%, and the complete response rate was 58%. Four of six patients died in complete remission as a result of bacterial sepsis (n = 2), chronic GVHD and fungal infection (n = 1), or lung cancer (n = 1); only two died as a result of progressive disease. Eight experienced relapse in skin; five regained complete response with reduced immunosuppression or donor lymphocyte infusions. Eleven of 13 are currently in complete remissions, with median follow-up of 19 months (range, 1.3 to 8.3 years). Median overall survival has not been reached. Total skin electron beam followed by allogeneic stem-cell transplantation merits additional evaluation for a selected group of patients with refractory, advanced, cutaneous T-cell lymphoma with evidence for graft-versus-tumor effect.

  11. Pigmentary Markers in Danes – Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome

    DEFF Research Database (Denmark)

    Johansen, Peter; Andersen, Jeppe Dyrberg; Madsen, Linnea Nørgård

    2016-01-01

    pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average......To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical...... variants (missense, NM_002386:c. 456C > A (p.TYR152*), or NM_002386:c.83_84insA (p.Asn29Glnfs*14) had significantly (ppigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive...

  12. Two QTL characterized for soft scald and soggy breakdown in apple (Malus × domestica) through pedigree-based analysis of a large population of interconnected families

    NARCIS (Netherlands)

    Howard, Nicholas P.; Weg, van de Eric; Tillman, John; Tong, Cindy B.S.; Silverstein, Kevin A.T.; Luby, James J.

    2018-01-01

    Soft scald and soggy breakdown are important postharvest physiological disorders of apple (Malus × domestica). ‘Honeycrisp’ and some of its offspring are particularly susceptible to developing these disorders. The purpose of this study was to identify molecular markers associated with high

  13. APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations

    NARCIS (Netherlands)

    Shen, J.; Bogaard, E.H.J. van den; Kouwenhoven, E.N.; Bykov, V.J.; Rinne, T.K.; Zhang, Q.; Tjabringa, G.S.; Gilissen, C.F.H.A.; Heeringen, S.J. van; Schalkwijk, J.; Bokhoven, J.H.L.M. van; Wiman, K.G.; Zhou, H.

    2013-01-01

    p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders manifested in ectodermal dysplasia, limb defects, and orofacial clefting. We have established primary adult skin keratinocytes from ectrodactyly,

  14. Toxic epidermal necrolysis and Stevens-Johnson syndrome

    Science.gov (United States)

    2010-01-01

    Toxic epidermal necrolysis (TEN) and Stevens Johnson Syndrome (SJS) are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. Both are rare, with TEN and SJS affecting approximately 1or 2/1,000,000 annually, and are considered medical emergencies as they are potentially fatal. They are characterized by mucocutaneous tenderness and typically hemorrhagic erosions, erythema and more or less severe epidermal detachment presenting as blisters and areas of denuded skin. Currently, TEN and SJS are considered to be two ends of a spectrum of severe epidermolytic adverse cutaneous drug reactions, differing only by their extent of skin detachment. Drugs are assumed or identified as the main cause of SJS/TEN in most cases, but Mycoplasma pneumoniae and Herpes simplex virus infections are well documented causes alongside rare cases in which the aetiology remains unknown. Several drugs are at "high" risk of inducing TEN/SJS including: Allopurinol, Trimethoprim-sulfamethoxazole and other sulfonamide-antibiotics, aminopenicillins, cephalosporins, quinolones, carbamazepine, phenytoin, phenobarbital and NSAID's of the oxicam-type. Genetic susceptibility to SJS and TEN is likely as exemplified by the strong association observed in Han Chinese between a genetic marker, the human leukocyte antigen HLA-B*1502, and SJS induced by carbamazepine. Diagnosis relies mainly on clinical signs together with the histological analysis of a skin biopsy showing typical full-thickness epidermal necrolysis due to extensive keratinocyte apoptosis. Differential diagnosis includes linear IgA dermatosis and paraneoplastic pemphigus, pemphigus vulgaris and bullous pemphigoid, acute generalized exanthematous pustulosis (AGEP), disseminated fixed bullous drug eruption and staphyloccocal scalded skin syndrome (SSSS). Due to the high risk of mortality, management of patients with SJS/TEN requires rapid diagnosis, evaluation of the prognosis using SCORTEN

  15. Short-Term Memory Impairment and Left Dorsolateral Prefrontal Cortex Dysfunction in the Orthostatic Position: A Single Case Study of Sinking Skin Flap Syndrome

    Directory of Open Access Journals (Sweden)

    Luca Sebastianelli

    2015-01-01

    Full Text Available We describe the case of a patient who underwent craniectomy for hemorrhage of the left parietal lobe. Three weeks later, orthostatic memory impairment was detected as initial symptom of sinking skin flap syndrome (SSFS. This deficit was examined by neuropsychological testing and associated with a posture-dependent increase in the delta/alpha ratio at the F3 electrode, an electroencephalographic (EEG index related to brain hypoperfusion. This EEG spectral alteration was detected in a brain region that includes the left dorsolateral prefrontal cortex, an area known to be involved in memory processing; therefore we hypothesize that SSFS induced reversible hypoperfusion of this otherwise undamaged cortical region. Neither of these findings was present after cranioplasty. This case suggests that SSFS may induce neuropsychological deficits potentially influencing outcome in the postacute phase and is further evidence supporting the clinical benefits of early cranioplasty.

  16. Investigating the Effect of Sympathetic Skin Response Parameters on the Psychological Test Scores in Patients with Fibromyalgia Syndrome by Using ANNS

    Directory of Open Access Journals (Sweden)

    Murat Yıldız

    2013-01-01

    Full Text Available In this study, psychological tests such as Visual Analogue Pain Scale, Verbal Pain Scale, Beck Depression Inventory, Beck Anxiety Inventory, Hamilton Depression Rating Scale and Hamilton Anxiety Scale were applied to the selected healthy subjects and patients with Fibromyalgia Syndrome (FMS in Suleyman Demirel University, Faculty of Medicine, Department of Physical Medicine and Rehabilitation and the scores were recorded. A measurement system was established in the same department of the university to measure the sympathetic skin response (SSR from the subjects. The SSR was measured and recorded. The parameters such as latency time, maximum amplitude and the elapsed time were calculated by using Matlab software from the recorded SSR data. SSR parameters were added to the scores and diagnosis accuracy percentages of the FMS calculated by using artificial neural networks (ANNs. Obtained results from the simulations showed that the specified parameters of the SSR and FMS were concerned and these parameters can be used as a diagnostic method in FMS.

  17. Extraction of anthocyanins from black corn cultivated in Tunshi-Chimborazo subjected to different heat treatments for scalding

    Directory of Open Access Journals (Sweden)

    Carmen Díaz

    2016-10-01

    Full Text Available In order to avoid the loss of anthocyanins during the preparation of black corn (Zea mays L. as food, and for the extraction of these metabolites for industrial purposes, it is necessary to determine the effect of several factors that influence its final content. The objective of this work was to extract anthocyanins from black corn cultivated in Tunshi-Chimborazo, Ecuador subjected to different heat treatments for scalding. Black corn seeds were used and planted manually. The corn cobs harvests were subjected to three scalding treatments (immersion in boiling water, steam and microwave with 160W of power with three times (3, 5 and 7 minutes. In addition, a control treatment was included without application of heat treatment. The content of total anthocyanins per sample was calculated as cyanidin 3-glucoside equivalent per kg fresh mass (mg kg-1. The content of anthocyanins was found to vary with the heat treatment applied. The extraction times conditioned the differences in anthocyanin content only at the extreme values for immersion in boiling water. Heat treatment methods of black corn for sclading such as immersion in boiling water, steam and microwave with 160 W of power condition the anthocyanin content. The maximum reduction of the anthocyanin equivalent content of cyanidin in the black corn grains was obtained in the treatment with immersion in boiling water during 7 min where it was reduced in 79%, while the preservation in these of the content of anthocyanins was achieved with the use of microwave with 160W of power for 3 min.   Keywords: microwave, secondary metabolites, Zea mays

  18. No association between Birt-Hogg-Dubé syndrome skin fibrofolliculomas and the first 10 described human polyomaviruses or human papillomaviruses.

    Science.gov (United States)

    Bradley, Maria; Nordfors, Cecilia; Vlastos, Andrea; Ferrara, Giovanni; Ramqvist, Torbjörn; Dalianis, Tina

    2014-11-01

    The rare autosomal dominant condition Birt-Hogg-Dubé syndrome (BHD) is attributed to mutations on chromosome 17 in the folliculin (FLCN) gene, but not always diagnosed due to lack of, or a variety of symptoms such as fibrofolliculomas, lung cystic lesions, spontaneous pneumothorax and renal cancer. We hypothesized that the lack of or variability in symptoms could be due to BHD patients potentially being abnormally susceptible to infections with human papillomavirus (HPV) or human polyomavirus (HPyV), which can be associated with skin lesions or latency in the kidneys. Seven fibrofolliculoma skin lesions, one renal cancer and one lung cyst from nine patients with BHD treated at the Karolinska University Hospital were therefore analyzed for cutaneous and mucosal HPV types and 10 HPyVs by bead based multiplex assays or by PCR. All samples were negative for viral DNA. In conclusion, the data suggest that HPV and HPyVs do not contribute to BHD pathology. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Diagnosis of post-traumatic complex regional pain syndrome of the hand: current role of sympathetic skin response and three-phase bone scintigraphy.

    Science.gov (United States)

    Pankaj, A; Kotwal, P P; Mittal, R; Deepak, K K; Bal, C S

    2006-12-01

    To evaluate the role of sympathetic skin response (SSR) and three-phase bone scintigraphy (TPBS) in the diagnosis of complex regional pain syndrome (CRPS). 60 patients with CRPS of the hand were recruited. TPBS was performed using a bolus injection of 20 mCi of Tc-99m methylene diphosphonate in an antecubital vein and blood flow (first phase) image, blood pool (second phase) image, and delayed (third phase) image obtained. Patients were considered to have CRPS when the blood pool and blood flow images showed diffuse asymmetric uptake, or when the delayed image indicated increased asymmetric periarticular uptake. SSR was measured simultaneously in the affected and unaffected hands. Standard surface electromyogram disc electrodes were applied to the palm and dorsum of both hands. Electrical stimuli were applied to the skin at the base of little and ring fingers of the unaffected hand. Patients were considered abnormal when response was absent or the peak-to-peak amplitude was CRPS during the initial stages, but not in late cases. SSR can be used to document the sympathetic dysfunction in cases having an associated sweating abnormality and may have some diagnostic value in late cases of CRPS, when TPBS is less reliable.

  20. Far-infrared ray patches relieve pain and improve skin sensitivity in myofascial pain syndrome: A double-blind randomized controlled study.

    Science.gov (United States)

    Lai, Yen-Ting; Chan, Hsiang-Lin; Lin, Shu-Huan; Lin, Chih-Ching; Li, Szu-Yuan; Liu, Chih-Kuang; Teng, Hao-Wei; Liu, Wen-Sheng

    2017-12-01

    Myofascial pain syndrome (MPS) is a common disorder characterized by muscle pain if myofascial trigger points (MTrP) are stimulated. This study evaluated the effectiveness of far-infrared ray (FIR) patches in reducing the severity of pain in patients with MPS. A double-blind, randomized controlled study involving 125 patients with MPS and 201 MTrPs located in the trapezius muscle. A FIR patch was applied to 98 MTrPs for 24h in the intervention group (61 patients) and a placebo patch was applied to 91 MTrPs in the control group (57 patients) at the end. Pain intensity was measured using the visual analogue scale (V) while pressure pain threshold (P) and maximal pain tolerance (T) were measured using an algometer before and after treatment. The mean age of the patients was 37.16 years old and 67% were female. There was a positive correlation between P and T (ppain (with decreased V), but P and T dropped only in the intervention group with FIR patches. This probably resulted from FIR penetrated only to the skin layer and improved skin sensitivity with more blood circulation, but the muscle remained unaffected. Further studies should investigate the effect of longer exposure or higher energy applications. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. Diagnostic value of scratch-chamber test, skin prick test, histamine release and specific IgE in birch-allergic patients with oral allergy syndrome to apple

    DEFF Research Database (Denmark)

    Osterballe, M; Scheller, R; Stahl Skov, P

    2003-01-01

    BACKGROUND: The aim of the study was to examine the diagnostic value of skin prick test (SPT), scratch-chamber test (SCT), histamine release (HR) and specific immunoglobulin E (IgE) in birch-allergic patients with oral allergy syndrome to apple. METHODS: Ten birch-allergic patients with oral...... allergy syndrome to apple and 10 control subjects were included. All were tested with SPT, SCT, HR and specific IgE [CAP, Pharmacia, Sweden and Magic Lite (ML), ALK-ABELLO, Denmark]. RESULTS: The SPT with apple, acetone extract of apple (A72) and commercial apple extract showed sensitivities of 0.80, 0.......90 and 0.10, respectively. The SCT with the same extracts showed sensitivities of 0.30, 0.50 and 0.20, respectively. The sensitivity of specific IgE to apple were 0.90 (CAP) and 0.10 (ML). The sensitivity of the HR test was 90% (A72), and 25% using the commercial extract. CONCLUSION: The SPT and HR test...

  2. Two cases of pollen-food allergy syndrome to soy milk diagnosed by skin prick test, specific serum immunoglobulin E and microarray analysis.

    Science.gov (United States)

    Yagami, Akiko; Inaba, Yasuko; Kuno, Yuki; Suzuki, Kayoko; Tanaka, Akira; Sjolander, Sigrid; Saito, Hirohisa; Matsunaga, Kayoko

    2009-01-01

    Oral allergy syndrome to soy milk is classified as a phenotype of pollen-food allergy syndrome (PFAS). As causative antigens, Gly m 4 (Bet v 1 homolog, 17 kD) and oleosin (23 kD), have been reported. In this study, we report two cases of PFAS to soy milk. Both cases showed positive reactions to soy milk in skin prick tests (SPT) and to Gly m 4 in specific serum immunoglobulin (Ig)E antibody. When we measured specific serum IgE antibody of soy-related proteins using a new laboratory testing method, microarray analysis, both cases showed a positive reaction for Bet v 1. One case was weakly positive for a soybean protein, beta-conglycinin. Other results for reactivity to soy, peanut, cross-reactive carbohydrate determinants and profilin were negative. Based on these results, we diagnosed the two cases as PFAS to Gly m 4. We also performed protein microarray analysis and found it useful as a screening test for immediate allergy, such as PFAS.

  3. A mesenteric traction syndrome affects near-infrared spectroscopy evaluated cerebral oxygenation because skin blood flow increases

    DEFF Research Database (Denmark)

    Olesen, Niels D; Sørensen, Henrik; Ambrus, Rikard

    2017-01-01

    During abdominal surgery manipulation of internal organs may induce a "mesenteric traction syndrome" (MTS) including a triad of flushing, hypotension, and tachycardia that lasts for about 30 min. We evaluated whether MTS affects near-infrared spectroscopy (NIRS) assessed frontal lobe oxygenation......) was evaluated by pulse-contour analysis (Modelflow), and transcranial Doppler assessed middle cerebral artery mean flow velocity (MCA Vmean). MTS was identified by flushing within 60 min after start of surgery. MTS developed 20 min (12-24; median with range) after the start of surgery and heart rate (78 ± 16 vs...

  4. Temperature-dependent autoxidation of conjugated trienols from apple peel yields 6-methyl-5-hepten-2-one, a volatile implicated in induction of scald.

    Science.gov (United States)

    Whitaker, B D; Saftner, R A

    2000-06-01

    Conjugated triene (CT) oxidation products of alpha-farnesene have long been thought to be involved in development of superficial scald in apple fruit. Early studies found that CT hydroperoxides and the volatile 6-methyl-5-hepten-2-one (MHO) are major in vitro autoxidation products of alpha-farnesene. However, it was recently shown that > or =99% of the oxidation products of alpha-farnesene that accumulate in apple peel are conjugated trienols (CTols), isomers of 2,6,10-trimethyldodeca-2,7,9,11-tetraene-6-ol. HPLC-purified CTols from fruit of two scald-susceptible cultivars, Granny Smith (GS) and Red Delicious (RD), were used to study autoxidation of these compounds in vitro. Incubation of CTols in sealed glass vials under air resulted in accumulation of MHO. Oxygen enrichment did not increase the amount of MHO produced. Regardless of which cultivar CTols were derived from, at 0 degrees C autoxidation yielding MHO was quite slow and linear, whereas at 20 degrees C MHO production was much more rapid, and after several hours the rate increased abruptly. However, CTols isolated from GS and RD fruit differed in the duration of the initial lag phase and the overall level of MHO generated at 20 degrees C. The sharp increase in MHO production occurred after 3 h with GS CTols and at about 12 h with RD CTols. Also, the yield of MHO from GS CTols after 6 h at 20 degrees C was nearly 6-fold greater than that from RD CTols after 20 h at 20 degrees C. The antioxidants butylated hydroxytoluene and diphenyamine reduced the yield of MHO by about 97%. Recent work has shown that MHO can induce scald-like symptoms in apple peel and that tissue sensitivity increases with time in storage. This may explain the correlation between high CTol levels and scald development, and why symptoms rapidly intensify when fruits are removed from cold storage.

  5. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

    Science.gov (United States)

    Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina

    2018-01-01

    Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures. To shed lights into molecular mechanisms underlying vEDS, we performed gene expression profiling in cultured skin fibroblasts from three patients with different structural COL3A1 mutations. Transcriptome analysis revealed significant changes in the expression levels of several genes involved in maintenance of cell redox and endoplasmic reticulum (ER) homeostasis, COLLs folding and extracellular matrix (ECM) organization, formation of the proteasome complex, and cell cycle regulation. Protein analyses showed that aberrant COLLIII expression is associated with the disassembly of many structural ECM constituents, such as fibrillins, EMILINs, and elastin, as well as with the reduction of the proteoglycans perlecan, decorin, and versican, all playing an important role in the vascular system. Furthermore, the altered distribution of the ER marker protein disulfide isomerase PDI and the strong reduction of the COLLs-modifying enzyme FKBP22 are consistent with the disturbance of ER-related homeostasis and COLLs biosynthesis and post-translational modifications, indicated by microarray analysis. Our findings add new insights into the pathophysiology of this severe vascular disorder, since they provide a picture of the gene expression changes in vEDS skin fibroblasts and highlight that dominant negative mutations in COL3A1 also affect post-translational modifications and deposition into the ECM of

  6. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

    Directory of Open Access Journals (Sweden)

    Nicola Chiarelli

    Full Text Available Vascular Ehlers-Danlos syndrome (vEDS is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII, which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures. To shed lights into molecular mechanisms underlying vEDS, we performed gene expression profiling in cultured skin fibroblasts from three patients with different structural COL3A1 mutations. Transcriptome analysis revealed significant changes in the expression levels of several genes involved in maintenance of cell redox and endoplasmic reticulum (ER homeostasis, COLLs folding and extracellular matrix (ECM organization, formation of the proteasome complex, and cell cycle regulation. Protein analyses showed that aberrant COLLIII expression is associated with the disassembly of many structural ECM constituents, such as fibrillins, EMILINs, and elastin, as well as with the reduction of the proteoglycans perlecan, decorin, and versican, all playing an important role in the vascular system. Furthermore, the altered distribution of the ER marker protein disulfide isomerase PDI and the strong reduction of the COLLs-modifying enzyme FKBP22 are consistent with the disturbance of ER-related homeostasis and COLLs biosynthesis and post-translational modifications, indicated by microarray analysis. Our findings add new insights into the pathophysiology of this severe vascular disorder, since they provide a picture of the gene expression changes in vEDS skin fibroblasts and highlight that dominant negative mutations in COL3A1 also affect post-translational modifications and deposition

  7. Skin Biopsy

    Science.gov (United States)

    ... The Procedure Safety Results en español Biopsia de piel What Is a Skin Biopsy and Who Would ... skin infections, such as staph diseases, such as cancer other medical problems that may affect the skin, ...

  8. Ascher syndrome

    Directory of Open Access Journals (Sweden)

    Zhifang Zhai

    2015-03-01

    Full Text Available Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.

  9. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  10. [Aged skin and skin care].

    Science.gov (United States)

    Proksch, E

    2015-06-01

    Aged skin is the sum of chronological und UV-induced aging. Light-exposed skin is unattractive, with irregular pigmentation, roughness und scaliness. The skin is often dry and itches. The present paper provides an overview of diseases of aging skin and describes how to prevent or reduce disease by prophylactic and therapeutic skin care. Aged skin can develop into several skin diseases, e.g., different types of eczema and skin cancer. In the body folds we often find an irritant contact eczema caused by friction from skin to skin, sweating, and urinary and fecal incontinence. In the bedridden, bed sores can also develop. Furthermore, there is a delay in wound healing owing to old age. Use of adequate creams and ointments is very helpful in preventing and improving most skin diseases of mature skin. However, the knowledge of aged people and healthcare professionals about the importance of skin care is low. Older people are often unable to care for their skin because they are lacking the physical and mental ability. Healthcare professionals are not sufficiently trained about the value of proper skin care. Adequate studies on the role of skin care and selection of the correct preparation in various aged-related diseases are lacking.

  11. The burning issues of motor vehicle radiator scald injuries revisited - a fresh review and changing prevention strategies.

    Science.gov (United States)

    Patel, J N; Tan, A; Frew, Q; Dziewulski, P

    2016-12-31

    A preventable subgroup of burn injuries is scalds sustained from motor vehicle radiators. This study was to determine changes in trends in epidemiology of such injuries and to discuss whether current and other prevention efforts proposed previously require reinforcement. We conducted a retrospective study (February 2007-August 2015) of all motor vehicle-related burn referrals to our regional burns service. 68 cases of motor vehicle radiator burns were identified. Male to female ratio was 65:3. Mean age was 35.1 (range = 9-71). Most cases occurred in the summer months (22/68 = 32.4%). 65 cases (95.6%) involved car radiators. 66% of injuries resulted from actively removing the pressure cap of an overheated radiator in the motor vehicle. Mean total burn surface area (%TBSA) was 2.1% (range = 0.5- 11%). The depths of burn injuries were mostly superficial partial thickness. Face, chest and upper limbs were the most common sites of injury. Mean healing time was 14.2 days (range = 4-60). Following the introduction of safety measures by vehicle manufacturers, motor vehicle radiator burns in this era are mostly minor injuries and can be potentially managed conservatively as an outpatient. This contrasts with findings from previous studies over a decade ago of larger, more significant injuries requiring admission and surgery. Whilst manufacturers have installed safety measures into the design of radiator caps, our findings suggest that re-educating the public to allow a period of cooling prior to opening caps should be reinforced.

  12. Burning mouth syndrome: A review

    Directory of Open Access Journals (Sweden)

    Rajendra G Patil

    2017-01-01

    Full Text Available Burning mouth syndrome is a condition characterized by chronic orofacial pain without any mucosal abnormalities or other organic disease. There are numerous synonyms for this ailment such as stomatodynia, stomatopyrosis, glossodynia, glossopyrosis, sore mouth, sore tongue, oral dysesthesia, and scalding mouth syndrome. Patients usually present with burning, stinging, or numbness on the tongue or other areas of oral mucosa. The complex etiology and lack of characteristic signs and symptoms makes the diagnosis difficult. As a result of which managing such patients become a herculean task. Moreover, lack of understanding of the disease leads to misdiagnosis and unnecessary referral of patients. In this article, the authors have described the etiopathogenesis, diagnostic algorithm and management of this confusing ailment.

  13. Skin Infections

    Science.gov (United States)

    ... Abscess Cellulitis Taking Care of Your Skin Abscess Impetigo Ringworm Cellulitis Should I Pop My Pimple? Tips for Taking Care of Your Skin Impetigo Paronychia Pityriasis Rosea Abscess Contact Us Print Resources ...

  14. Skin Aging

    Science.gov (United States)

    ... too. Sunlight is a major cause of skin aging. You can protect yourself by staying out of ... person has smoked. Many products claim to revitalize aging skin or reduce wrinkles, but the Food and ...

  15. Skin Dictionary

    Science.gov (United States)

    ... benefits Become a member DermCare Team Professionalism and ethics My account Member directory Publications JAAD JAAD Case ... SkinPAC State societies Scope of practice Truth in advertising Public and patients SPOT Skin Cancer™ Community programs & ...

  16. Sagging Skin

    Science.gov (United States)

    ... Hands Age Spots Aging Skin Birthmarks Burn Scars Cellulite Crow's Feet Droopy Eyelids Excess Fat Excessive Sweating ... Hands Age Spots Aging Skin Birthmarks Burn Scars Cellulite Crow's Feet Droopy Eyelids Excess Fat Excessive Sweating ...

  17. Skin Pigment

    Science.gov (United States)

    ... Summer Camp Tips for Kids With Asthma, Allergies Antioxidants: The Good Health Helpers As Stroke 'Liquefies' Brain ... Skin Cancer Additional Content Medical News Overview of Skin Pigment By Shinjita Das, MD, Instructor in Dermatology; ...

  18. Skin Cancer

    Science.gov (United States)

    Skin cancer is the most common form of cancer in the United States. The two most common types ... face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. Anyone ...

  19. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). : Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

    NARCIS (Netherlands)

    M. Goeteyn (M.); A.P. Oranje (Arnold); V.D. Vuzevski (Vojislav); R. de Groot (Ronald); L.W.A. van Suijlekom-Smit (Lisette)

    1991-01-01

    textabstractThe Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe

  20. Your Skin

    Science.gov (United States)

    ... and a little waterproofing. previous continue Skin Can Warm and Cool You Your skin can help if you're feeling too hot or too cold. Your blood ... you're ice-skating or sledding? When you're cold, your blood vessels keep your ... and keeping the warm blood away from the skin's surface. You might ...

  1. Application of On-Line nanoLC-IT-TOF in the Identification of Serum β-Catenin Complex in Mice Scald Model

    Science.gov (United States)

    Huang, Cheng-cai; Yan, Shi-hai; Chen, Dan; Chen, Bi-cheng; Zhao, Ning-wei

    2012-01-01

    Severe burn shock remains an unresolved clinical problem with an urgent need to explore novel therapeutic treatments. Intracellular β-catenin, through interaction with other proteins, has been reported to be able to regulate the size of cutaneous wounds. Higher expression of β-catenin is associated with larger sized wounds. However, the identification of serum β-catenin complex is difficult and has been rarely reported. The exploitation of more binding partners can contribute to uncovering the exact mechanisms behind serum β-catenin mediated biological effects. Here, we describe a method that consists of immunoprecipitation, SDS-PAGE, in-gel digestion, and nanoLC coupled to LCMS-IT-TOF for the investigation of serum β-catenin complex in mice scald model. Among selected gel bands obtained from the protein gels, a total of 31 peptides were identified and sequenced with high statistical significance (pLCMS-IT-TOF mass spectrometer was capable of sensitive and automated characterization of the serum β-catenin complex in mice scald model. PMID:23056334

  2. Skin Diseases: Skin Health and Skin Diseases

    Science.gov (United States)

    ... a serious case, you might need medical help. Impetigo —A skin infection caused by bacteria. Usually the ... and form a thick crust. You can treat impetigo with antibiotics. Melanoma © 2008 Logical Images, Inc. Melanoma — ...

  3. Clinical utility of skin karyotype

    OpenAIRE

    Dorfman, Luiza E.; Silva, Agnes F. R. P.; Paskulin, Giorgio A.; Rosa, Rafael F. M.; Zen, Paulo R. G.

    2015-01-01

    ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype ...

  4. Skin turgor

    Science.gov (United States)

    ... are: Connective tissue disorders such as scleroderma and Ehlers-Danlos syndrome These connective tissue disorders do not have ... ed. Elsevier Mosby; 2015:chap 8. Ferri FF. Ehlers-Danlos syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor ...

  5. Hyperelastic skin

    Science.gov (United States)

    ... is most often seen in people who have Ehlers-Danlos syndrome. People with this disorder have very elastic ... any member of your family been diagnosed with Ehlers-Danlos syndrome? What other symptoms are present? Genetic counseling ...

  6. Helicobacter pylori infection and skin disorders

    National Research Council Canada - National Science Library

    Kutlubay, Zekayi; Zara, Tuba; Engin, Burhan; Serdaroğlu, Server; Tüzün, Yalçin; Yilmaz, Erkan; Eren, Bülent

    2014-01-01

    ..., Behçet's disease, alopecia areata, Henoch-Schönlein purpura, and Sweet's syndrome. However, more systematic studies are required to clarify the proposed association between Helicobacter pylori and skin diseases...

  7. Skin abscess

    Science.gov (United States)

    ... can help identify the cause of the infection. Treatment You can apply moist heat (such as warm compresses) to help the abscess ... if you develop new symptoms during or after treatment of a skin abscess. Prevention ... the skin around minor wounds clean and dry to prevent infection. Call your provider if you ...

  8. The Evaluation of the Impact of Age, Skin Tags, Metabolic Syndrome, Body Mass Index, and Smoking on Homocysteine, Endothelin-1, High-sensitive C-reactive Protein, and on the Heart.

    Science.gov (United States)

    El Safoury, Omar Soliman; Ezzat, Marwa; Abdelhamid, Mahmoud F; Shoukry, Nadia; Badawy, Ehssan

    2013-07-01

    Skin tags (STs) are small, pedunculated skin-colored or brown papules that occur around any site where skin folds occur. The literature is short of comprehensive and controlled clinical studies aimed to evaluate the atherogenic risk factors in patients with STs. The aim of this study is to evaluate the impact of age, STs, metabolic syndrome (METs), body mass index (BMI), and smoking on homocysteine (Hcy), endothelin-1 (ET-1), high-sensitive C-reactive protein (Hs-CRP), and on cardiovascular diseases. This study included 30 cardiac patients with STs, 30 non-cardiac patients with STs, and 30 healthy controls with neither heart disease nor STs. History of smoking, measurement of height, weight, BMI, waist circumference (WC), blood pressure, STs number, color, acanthosis nigricans, estimation of serum level of fasting glucose, triglycerides (TGs), cholesterol, high-dense lipoproteins (HDL), Hcy, ET-1, Hs-CRP, and the presence of the METs were elicited in the three groups. Regarding the Hcy, ET-1, and Hs-CRP, the cardiac-STs group showed the highest levels and the control group showed the least (P Bermuda Triangle that act against the heart.

  9. A case of goldenhar's syndrome

    OpenAIRE

    Atabey, A.; Barutçu, A.

    1992-01-01

    Goldenhar's syndrome (Goldenhar-Gorlin syndrome, facioauricuiovertebral sequence, oculoauriculoverteb- ral dysplasia) is a variant of craniofacial microsomia (first and second branchial arch syndrome). It is generally characterized by epibulbar dermoids and/or lipo- dermoids, pretragal blinded fistulas, skin tags on the cheek and vertebral anomalies. A 24-year-old female patient with Goldenhar's syndrome was presented in this paper.

  10. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  11. POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, skin lesions syndrome: a South America's report POEMS (polineuropatia, organomegalia, endocrinopatia, proteína M, alterações de pele: relato sul-americano

    Directory of Open Access Journals (Sweden)

    Ana Claudia Celestino Leite

    2007-06-01

    Full Text Available The POEMS syndrome, also known as Crow-Fukase syndrome, is an unusual systemic disorder described mainly in Asian individuals. It is characterized by the presence of (Ppolyneuropathy, (Oorganomegaly, (Eendocrinopathy, (M M-protein, and (S skin changes. Several other associated condictions such as sclerotic bone lesions, Castleman disease, low-grade fever, edema and hematologic disorders are usually seen. We describe five Brazilian patients with this syndrome. Two patients presented Castleman disease, one patient presented osteosclerotic myeloma and in two patients no associated conditions were found.A síndrome POEMS, também conhecida como síndrome de Crow-Fukase é uma desordem sistêmica rara descrita principalmente em asiáticos. Ela é caracterizada pela presença de (P polineuropatia, (O organomegalia, (E endocrinopatia, (M proteína M e (S alterações de pele. Diversas outras manifestações, tais como lesões osteoescleróticas, doença de Castleman, febre baixa, edema e distúrbios hematológicos são freqüentemente observados. Apresentamos cinco pacientes brasileiros com esta síndrome. Dois pacientes apresentaram diagnóstico de doença de Castleman, um paciente com mieloma osteoesclerótico e em dois pacientes, nenhuma condição associada foi encontrada.

  12. [CREST syndrome].

    Science.gov (United States)

    Meyer, Olivier

    2002-05-01

    CREST syndrome has been described as a form of progressive systemic sclerosis in which there is relatively limited involvement of the skin, prominence of calcinosis, Raynaud's phenomenon, esophageal dysfunction and telangiectasia. The acronym CREST was coined in 1964 by Winterbauer in the USA but the very first case report was by French physicians Thibierge and Weissenbach in 1910. Antinuclear antibodies recognizing chromosomal centromere proteins are characteristic of CREST syndrome and are present in more than 50% of the cases. The prognosis of CREST syndrome is relatively good with a long lasting disease duration (>10 years). Two complications are seldom associated with CREST syndrome: digital gangrene with finger losses and pulmonary hypertension (3 to 14% of CREST syndrome). Pulmonary hypertension is a very late event and the prognosis is very severe (mortality rate of 50% after 2 years).

  13. Genetics of Skin Cancer (PDQ®)—Health Professional Version

    Science.gov (United States)

    Expert-reviewed information summary about the genetics of skin cancer — basal cell carcinoma, squamous cell carcinoma, and melanoma — including information about specific gene mutations and related cancer syndromes. The summary also contains information about interventions that may influence the risk of developing skin cancer in individuals who may be genetically susceptible to these syndromes.

  14. Examining the Relationship between Heart Rate and Problem Behavior: A Case Study of Severe Skin Picking in Prader-Willi Syndrome

    Science.gov (United States)

    Hall, Scott S.; Hammond, Jennifer L.; Hustyi, Kristin M.

    2013-01-01

    Few studies have examined the relationship between heart rate and self-injurious behavior (SIB) shown by individuals with IDD (intellectual and developmental disabilities). In this single-case study, we simultaneously monitored heart rate and activity levels during a functional analysis of severe skin picking behavior exhibited by a young man with…

  15. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  16. Ehlers- Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Prasanta Basak

    1989-01-01

    Full Text Available A female patient had Ehlers-Danlos syndrome type II since infancy, manifesting with hyperextensible skin and ciagarette paper scars at the sites of trauma. Treatment with vitamin C 1 gm a day seemed to be useful.

  17. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  18. Ehlers-Danlos syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  19. Chemical and functional characterization of seed, pulp and skin powder from chilto (Solanum betaceum), an Argentine native fruit. Phenolic fractions affect key enzymes involved in metabolic syndrome and oxidative stress.

    Science.gov (United States)

    Orqueda, María Eugenia; Rivas, Marisa; Zampini, Iris Catiana; Alberto, María Rosa; Torres, Sebastian; Cuello, Soledad; Sayago, Jorge; Thomas-Valdes, Samanta; Jiménez-Aspee, Felipe; Schmeda-Hirschmann, Guillermo; Isla, María Inés

    2017-02-01

    The aim of this work was to assess the nutritional and functional components of powder obtained by lyophilization of whole fruits, seeds, pulp and skin from chilto (Solanum betaceum Cav) cultivated in the ecoregion of Yungas, Argentina. The powders have low carbohydrate and sodium content and are a source of vitamin C, carotenoid, phenolics, potassium and fiber. The HPLC-ESI-MS/MS analysis of the fractions enriched in phenolics allowed the identification of 12 caffeic acid derivatives and related phenolics, 10 rosmarinic acid derivatives and 7 flavonoids. The polyphenols enriched extracts before and after simulated gastroduodenal digestion inhibited enzymes associated with metabolic syndrome, including α-glucosidase, amylase and lipase and exhibited antioxidant activity by different mechanisms. None of the analyzed fruit powders showed acute toxicity or genotoxicity. The powders from the three parts of S. betaceum fruit may be a potential functional food and the polyphenol enriched extract of seed and skin may have nutraceutical properties. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.

    Science.gov (United States)

    Suspitsin, Evgeny N; Sibgatullina, Farida I; Lyazina, Lydia V; Imyanitov, Evgeny N

    2017-03-01

    Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity. Here, we present 2 cases of BS, which were missed by standard genetic counseling and were eventually identified entirely due to chance. Our patients show the need for further investigations to confirm whether the atypical appearance of BS is indeed characteristic for biallelic carriers of the c.1642C>T (p.Q548X) allele and whether the absence of skin manifestations contributes to the underdiagnosis of the disease in Russia. Therefore, we suggest that all Slavic patients with only one single clinical feature of BS are to be screened for this allele and subjected to further analysis wherever appropriate. In addition to identifying new BS patients, this effort will help to clarify the frequency of "atypical BS" with incomplete phenotypic manifestations.

  1. Severe delayed skin reactions related to drugs in the paediatric age group: A review of the subject by way of three cases (Stevens-Johnson syndrome, toxic epidermal necrolysis and DRESS).

    Science.gov (United States)

    Belver, M T; Michavila, A; Bobolea, I; Feito, M; Bellón, T; Quirce, S

    2016-01-01

    Severe delayed drug-induced skin reactions in children are not common but potentially serious. This article describes aspects concerning the etiology, pathogenesis and clinical manifestations of these processes; it presents three paediatric cases, namely STS (Steven Johnson Syndrome), TEN (toxic epidermal necrolysis), probably related to amoxicillin/clavulanate and ibuprofen and DRESS (a drug reaction with eosinophilia and systemic symptoms) secondary to phenytoin; and in relation to them, the diagnosis and the treatment of these processes are discussed and reviewed. The AGEP (acute generalised exanthematous pustulosis) is also reviewed. The aetiological diagnosis of severe non-immediate reactions is difficult, and the value of current allergological testing is not well defined in these cases. Diagnosis is based on clinical history, the empirical risk of drugs to trigger SJS/TEN or DRESS, and the in vivo and in vitro testing of the suspect drug. Skin biopsy confirms that the clinical diagnosis and delayed hypersensitivity tests, especially the patch test and the lymphoblastic transformation test (LTT), may be important to confirm the aetiological diagnosis, in our cases emphasising the latter. These diseases can be life threatening (especially DRESS and TEN) and/or have a high rate of major complications or sequelae (SJS/TEN). The three cases described progressed well without sequelae. All were treated with corticosteroids, which is the most currently accepted treatment although the effect has not been clearly demonstrated. Copyright © 2015 SEICAP. Published by Elsevier Espana. All rights reserved.

  2. Peroxisomal very long-chain fatty acid [beta]-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

    NARCIS (Netherlands)

    Wanders, R.J.A.; Roermund, C.W.T. van; Wijland, M.J.A. van; Heikoop, J.; Schutgens, R.B.H.; Schram, A.W.; Tager, J.M.; Bosch, H. van den; Poll-Thé, B.T.; Saudubray, J.M.; Moser, H.W.; Moser, A.B.

    1987-01-01

    Since very long-chain fatty acids with a chain length of 24 carbons or more are known to accumulate in tissues and body fluids from patients with the cerebro-hepato-renal (Zellweger) syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and X-linked adrenoleukodystrophy, we studied very

  3. Histopathological and immunophenotypical criteria for the diagnosis of Sézary syndrome in differentiation from other erythrodermic skin diseases: a European Organisation for Research and Treatment of Cancer (EORTC) Cutaneous Lymphoma Task Force Study of 97 cases.

    Science.gov (United States)

    Klemke, C D; Booken, N; Weiss, C; Nicolay, J P; Goerdt, S; Felcht, M; Géraud, C; Kempf, W; Assaf, C; Ortonne, N; Battistella, M; Bagot, M; Knobler, R; Quaglino, P; Arheiliger, B; Santucci, M; Jansen, P; Vermeer, M H; Willemze, R

    2015-07-01

    Patients with erythrodermic disease are a diagnostic challenge regarding the clinical and histological differential diagnosis. To evaluate histopathological and immunohistochemical diagnostic markers for Sézary syndrome. Ninety-seven erythrodermic cases [Sézary syndrome (SS), n = 57; erythrodermic inflammatory dermatoses (EIDs), n = 40] were collected by the EORTC Cutaneous Lymphoma Task Force histopathology group. Evaluation criteria were (i) epidermal and dermal changes; (ii) morphology of the infiltrate; (iii) immunohistochemical analysis of marker loss (CD2, CD3, CD4, CD5 and CD7); (iv) bystander infiltrate by staining for CD8, FOXP3 and CD25; and (v) expression of Ki-67, CD30, PD-1 and MUM-1. The workshop panel made a correct diagnosis of SS in 51% of cases (cutaneous T-cell lymphoma 81%) and of EID in 80% without clinical or laboratory data. Histology revealed a significantly increased degree of epidermotropism (P skin samples was found significantly to express PD-1 (P = 0.0053), MUM-1 (P = 0.0017) and Ki-67 (P diagnosis of SS. A number of different histological and immunophenotypical criteria are required to differentiate between SS and EIDs. © 2015 British Association of Dermatologists.

  4. Ulcerative chickenpox in an immunocompetent child

    African Journals Online (AJOL)

    were cellulitis (24.8% of the group with complications), abscess (7.2%), necrotising skin lesions (4.6%), staphylococcal scalded skin syndrome (2.8%) and necrotising fasciitis (0.8%).3. Our patient appears to have the relatively uncommon necrotising form of secondary bacterial skin infection (ecthyma) as a complication of.

  5. Dry Skin (Xerosis)

    Science.gov (United States)

    ... Dry skin: Symptoms Dry skin: Causes Dry skin: Treatment Dry skin: Tips Tips Dry skin: Tips for managing Here are tips that can prevent dry skin or keep it from getting worse. Do not use hot water . Hot water removes your natural skin oils more ...

  6. Skin - clammy

    Science.gov (United States)

    ... the clammy skin may be due to heat exhaustion and the person is awake and can swallow: Have the person drink plenty of (non-alcoholic) fluids Move the person to a cool, shaded place When to Contact a Medical Professional Seek immediate medical help if the person has ...

  7. Clinical utility of skin karyotype

    Directory of Open Access Journals (Sweden)

    Luiza E. Dorfman

    2015-08-01

    Full Text Available ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.

  8. ‘We wrapped him in cotton wool’: a qualitative study examining the healthcare experience of parents following the burn or scald of their child; and the effect of the injury on the family.

    OpenAIRE

    Yewdall, Helen

    2008-01-01

    Childhood injury affects many families in the United Kingdom. In particular, burn injury can have a devastating effect, and disproportionately affects preschool children. In 2005, 158 children under five in Scotland were burned or scalded severely enough to require treatment as inpatients (ISD Scotland 2006).The aim of this thesis is to examine the impact of childhood burn injury on the family, and the parents’ view of its effect on the long-term parent-child relationship, whil...

  9. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

    Science.gov (United States)

    Goeteyn, M; Oranje, A P; Vuzevski, V D; de Groot, R; van Suijlekom-Smit, L W

    1991-02-01

    The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe ichthyosis. Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. The nails were hyperkeratotic. Morphologic findings were slight, regular acanthosis and severe diffuse hyperkeratosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration. The most prominent ultrastructural finding was the presence of solitary or multiple droplets of varying size in the cytoplasm of the keratinocytes. Hair analysis revealed no abnormalities; the cystine concentration in hair specimens was normal.

  10. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  11. Goldenhar syndrome: ocular features.

    Science.gov (United States)

    Bhallil, S; Benatiya, I; El Abdouni, O; Mahjoubi, B; Hicham, T

    2010-01-01

    Goldenhar syndrome is a rare congenital anomaly which consists of a triad of an ocular dermoid cyst, preauricular skin tags and vertebral dysplasia. We report two cases of Goldenhar syndrome, diagnosed in a 4-year-old girl and in a 20-year-old young adult. The dermoid cyst is a benign tumour with serious ophthalmologic complications.

  12. [DRESS syndrome caused by phenylbutazone].

    Science.gov (United States)

    Valade, S; Toledano, C; Tiev, K; Gain, M; Josselin, L; Cabane, J; Kettaneh, A

    2009-08-01

    The drug rash with hypereosinophilia and systemic symptoms (DRESS) syndrome is a severe drug-induced hypersensitivity syndrome. We report a 57-year-old woman suffering from a DRESS syndrome 15 days after phenylbutazone exposure. She had a skin eruption, liver involvement and hypereosinophilia. She fully recovered after drug withdrawal.

  13. Genetics of aplasia cutis reveal novel regulators of skin morphogenesis.

    Science.gov (United States)

    Marneros, Alexander G

    2015-03-01

    The molecular mechanisms that control skin morphogenesis are complex and only incompletely understood. Aplasia cutis manifests with localized skin defects at birth and is a feature in various syndromes. Identifying the genes that cause these genetic skin conditions provides the opportunity to define novel regulators of skin morphogenesis. Recently, human genetic approaches have led to the identification of aplasia cutis-causing mutations in genes that have previously not been implicated to have an important role in skin biology. These findings reveal novel molecular mechanisms that are involved in skin formation during development.

  14. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  15. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  16. Skin Cancer Foundation

    Science.gov (United States)

    ... Host a Fundraising Event | About Us | Store The Skin Cancer Foundation The Skin Cancer Foundation is the only ... Handbook A "Sunscreen Gene"? Skin Cancer Facts & Statistics Skin Cancer Treatment Glossary Information on medications and procedures The ...

  17. Skin Cancer Treatment

    Science.gov (United States)

    ... Skin Cancer Skin Cancer Screening Research Skin Cancer Treatment (PDQ®)–Patient Version General Information About Skin Cancer ... Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery ) depends mostly ...

  18. Skin lesion removal

    Science.gov (United States)

    Shave excision - skin; Excision of skin lesions - benign; Skin lesion removal - benign; Cryosurgery - skin, benign; BCC - removal; Basal cell cancer - removal; Actinic keratosis - removal; Wart - removal; Squamous cell - removal; ...

  19. Superior Orbital Fissure Syndrome and Ophthalmoplegia Caused by Varicella Zoster Virus with No Skin Eruption in a Patient Treated with Tumor Necrosis Alpha Inhibitor

    DEFF Research Database (Denmark)

    Jensen, Helene; Thomsen, Sidsel Thorup; Hansen, Stine Scott

    2015-01-01

    Varicella zoster virus lies dormant in the dorsal root ganglia after symptomatic chicken pox infection, usually in childhood. If the virus reactivates in the trigeminal ganglia, it can cause varicella zoster ophthalmicus, which can have severe ocular complications. We report a case of a 73-year......-old woman in severe immunosuppression due to treatment with mycophenolate mofetil, glucocorticosteroids and a tumor necrosis factor alpha inhibitor. The reactivation caused superior orbital fissure syndrome, which has only rarely been described in relation to varicella zoster virus reactivation. In our case...

  20. Birt-Hogg-Dubé syndrome

    DEFF Research Database (Denmark)

    Jensen, Dea Kejlberg; Villumsen, Anders; Skytte, Anne-Bine

    2017-01-01

    Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis...

  1. Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome Macrodactilia com hipertrofia da pele: uma forma mínima da síndrome de Proteu

    Directory of Open Access Journals (Sweden)

    Hiram Larangeira de Almeida Jr

    2011-06-01

    Full Text Available The Proteus syndrome was described 1983 . It has asymmetric gigantism of the limbs, verrucous epidermal naevi, cerebriform enlargement of the plantar region, vascular malformations and neoplasms, as lipomas. It received this denomination after Proteus from the Greek mythology, who had the ability to change his form . A 15 year-old boy, reported a congenital hypertrophy with syndactily of the second and third right fingers . The second case is a 35 year-old man, who reported that since birth the second right toe was bigger than the other toes, skin hypertrophy was also observed. These cases document a localized form if the Proteus syndrome, which may widen the spectrum of its variabilityA síndorme de Proteus foi descrita por Wiedemann em 1983. Ela é caracterizada por gigantismo assimétrico dos membros, nevos epidérmicos verrucosos, hipertrofia cerebriforme da região plantar, neoformações vasculares e neoplasias, como lipomas. Essa polimórfica enfermidade recebeu essa denominação segundo a figura da mitologia grega, a qual tinha como característica a habilidade de mudar de forma, para evitar sua captura. Examinou-se um menino de 15 anos, o qual referiu hipertrofia e sindactilia do segundo e terceiro quirodáctilos direitos e um homem de 35 anos, que referiu hipertrofia congênita do segundo pododáctilo direito. Havia hipertrofia da pele em ambos os casos. Esses dois pacientes documentam formas localizadas dessa síndrome, ampliando seu espectro clínico

  2. The evaluation of the impact of age, skin tags, metabolic syndrome, body mass index, and smoking on homocysteine, endothelin-1, high-sensitive C-reactive protein, and on the heart

    Directory of Open Access Journals (Sweden)

    Omar Soliman El Safoury

    2013-01-01

    Full Text Available Background: Skin tags (STs are small, pedunculated skin-colored or brown papules that occur around any site where skin folds occur. The literature is short of comprehensive and controlled clinical studies aimed to evaluate the atherogenic risk factors in patients with STs. Aim of Work: The aim of this study is to evaluate the impact of age, STs, metabolic syndrome (METs, body mass index (BMI, and smoking on homocysteine (Hcy, endothelin-1 (ET-1, high-sensitive C-reactive protein (Hs-CRP, and on cardiovascular diseases. Materials and Methods: This study included 30 cardiac patients with STs, 30 non-cardiac patients with STs, and 30 healthy controls with neither heart disease nor STs. History of smoking, measurement of height, weight, BMI, waist circumference (WC, blood pressure, STs number, color, acanthosis nigricans, estimation of serum level of fasting glucose, triglycerides (TGs, cholesterol, high-dense lipoproteins (HDL, Hcy, ET-1, Hs-CRP, and the presence of the METs were elicited in the three groups. Results: Regarding the Hcy, ET-1, and Hs-CRP, the cardiac-STs group showed the highest levels and the control group showed the least ( P < 0.001. The percents of patients with METs were 56.7% in the cardiac-STs, 40% in the non-cardiac-STs, and 0% in the control group ( P < 0.001. Mean BMI exceeded the limit of obesity in the cardiac-STs group (30.9 ± 3.9 and the non-cardiac-STs group (32.6 ± 6 and was normal in the control group (24.7 ± 2.8. Hyperpigmented STs were present in 66.7% of the cardiac-STs group. Multivariate regression analysis for the independent effectors on Hcy level were the presence of STs ( P < 0.001, METs ( P = 0.001, and BMI ( P = 0.024. Regarding ET-1, the effectors were the presence of STs and METs ( P = 0.032. For Hs-CRP, effectors were the presence of STs ( P < 0.001 and smoking ( P = 0.040. Multivariate logistic regression of the predictors of cardiac disease showed that the independent predictors of the occurrence

  3. Skin lymphoma.

    Science.gov (United States)

    Morris, S L

    2012-06-01

    Lymphoma arising from the skin is the second most common site of extra-nodal non-Hodgkin's lymphoma. Over the last 25 years, the incidence has been rising. There is now a new World Health Organization/European Organization for Research and Treatment of Cancer joint classification for cutaneous lymphomas and new proposed International Society for Cutaneous Lymphomas/European Organization for Research and Treatment of Cancer staging systems. This overview examines the role of radiotherapy in the current management of cutaneous T- and B-cell lymphomas encompassing technological advances, new systemic therapies and novel radio-enhancing therapies now available. Modern total skin electron beam radiotherapy and the current low-dose and combination approaches are reviewed. Radiotherapy has remained the most successful treatment for cutaneous lymphoma over the last 50 years and with the technological advances and combination approaches available now and in the future will remain so for the next 50 years. Copyright © 2012. Published by Elsevier Ltd.

  4. Skin Keratins.

    Science.gov (United States)

    Wang, Fengrong; Zieman, Abigail; Coulombe, Pierre A

    2016-01-01

    Keratins comprise the type I and type II intermediate filament-forming proteins and occur primarily in epithelial cells. They are encoded by 54 evolutionarily conserved genes (28 type I, 26 type II) and regulated in a pairwise and tissue type-, differentiation-, and context-dependent manner. Keratins serve multiple homeostatic and stress-enhanced mechanical and nonmechanical functions in epithelia, including the maintenance of cellular integrity, regulation of cell growth and migration, and protection from apoptosis. These functions are tightly regulated by posttranslational modifications as well as keratin-associated proteins. Genetically determined alterations in keratin-coding sequences underlie highly penetrant and rare disorders whose pathophysiology reflects cell fragility and/or altered tissue homeostasis. Moreover, keratin mutation or misregulation represents risk factors or genetic modifiers for several acute and chronic diseases. This chapter focuses on keratins that are expressed in skin epithelia, and details a number of basic protocols and assays that have proven useful for analyses being carried out in skin. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. The bleaching syndrome: manifestation of a post-colonial pathology ...

    African Journals Online (AJOL)

    The post-colonial root of African problems is directly related to skin color. Under the cloak of personal preference, light skin among African women has replaced dark skin as the native ideal. The aftermath is manifestation of the Bleaching Syndrome. Social Work professionals have overlooked the Bleaching Syndrome as ...

  6. Local burn injury impairs epithelial permeability and antimicrobial peptide barrier function in distal unburned skin.

    Science.gov (United States)

    Plichta, Jennifer K; Droho, Steve; Curtis, Brenda J; Patel, Parita; Gamelli, Richard L; Radek, Katherine A

    2014-06-01

    Our objective was to characterize the mechanisms by which local burn injury compromises epithelial barrier function in burn margin, containing the elements necessary for healing of the burn site, and in distal unburned skin, which serves as potential donor tissue. Experimental mouse scald burn injury. University Research Laboratory. C57/Bl6 Male mice, 8-12 weeks old. To confirm that dehydration was not contributing to our observed barrier defects, in some experiments mice received 1 mL of saline fluid immediately after burn, while a subgroup received an additional 0.5 mL at 4 hours and 1 mL at 24 hours following burn. We then assessed skin pH and transepidermal water loss every 12 hours on the burn wounds for 72 hours postburn. Burn margin exhibited increased epidermal barrier permeability indicated by higher pH, greater transepidermal water loss, and reduced lipid synthesis enzyme expression and structural protein production up to 96 hours postburn. By contrast, antimicrobial peptide production and protease activity were elevated in burn margin. Skin extracts from burn margin did not exhibit changes in the ability to inhibit bacterial growth. However, distal unburned skin from burned mice also demonstrated an impaired response to barrier disruption, indicated by elevated transepidermal water loss and reduced lipid synthesis enzyme and structural protein expression up to 96 hours postburn. Furthermore, skin extracts from distal unburned skin exhibited greater protease activity and a reduced capacity to inhibit bacterial growth of several skin pathogens. Finally, we established that antimicrobial peptide levels were also altered in the lung and bladder, which are common sites of secondary infection in burn-injured patients. These findings reveal several undefined deficiencies in epithelial barrier function at the burn margin, potential donor skin sites, and organs susceptible to secondary infection. These functional and biochemical data provide novel insights into

  7. Burning mouth syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Parveen Dahiya

    2013-01-01

    Full Text Available Menopause is a physiological process typically occurring in the fifth decade of life. One of the most annoying oral symptoms in this age group is the burning mouth syndrome (BMS, which may be defined as an intraoral burning sensation occurring in the absence of identifiable oral lesion or laboratory findings. Pain in burning mouth syndrome may be described as burning, tender, tingling, hot, scalding, and numb sensation in the oral mucosa. Multiple oral sites may be involved, but the anterior two-third part and the tip of tongue are most commonly affected site. There is no definite etiology for BMS other than the precipitating causative factors, and it is still considered idiopathic. Various treatment options like use of benzodiazepine, anti-depressants, analgesics, capsaicin, alpha lipoic acids, and cognitive behavioral therapy are found to be effective, but definite treatment is still unknown. The present article discusses some of the recent concepts of etiopathogenesis of BMS as well as the role of pharmacotherapeutic management in this disorder.

  8. Anyone Can Get Skin Cancer

    Science.gov (United States)

    ... of Skin Cancer Skin Cancer Screening Research Anyone Can Get Skin Cancer Order the free Anyone Can ... rarely, younger children can develop skin cancer. How can people with dark skin get skin cancer? Although ...

  9. Risks of Skin Cancer Screening

    Science.gov (United States)

    ... of Skin Cancer Skin Cancer Screening Research Skin Cancer Screening (PDQ®)–Patient Version What is screening? Go to ... all skin colors can get skin cancer. Skin Cancer Screening Key Points Tests are used to screen for ...

  10. Use of preputial skin for coverage of post-burn contractures of fingers in children

    Directory of Open Access Journals (Sweden)

    Mohammed I Zaroo

    2011-01-01

    Full Text Available Objective: Hand burns are common injuries. Children frequently sustain burn injuries, especially to their hands. Contractures are a common sequel of severe burns around joints. The prepuce, or foreskin, has been used as a skin graft for a number of indications. We conducted this study to evaluate the feasibility of utilising the preputial skin for the management of post-burn contractures of fingers in uncircumcised male children. Materials and Methods: Preputial skin was used for the coverage of released contractures of fingers in 12 patients aged 2-6 years. The aetiology of burns was "Kangri" burn in eight patients and scalding in four patients. Six patients had contracture in two fingers, four patients in one finger, and two patients had contractures in three fingers. Results: None of the patients had graft loss, and all the wounds healed within 2 weeks. All patients had complete release of contractures without any recurrence. Hyperpigmentation of the grafts was observed over a period of time, which was well accepted by the parents. Conclusions: Preputial skin can be used successfully for male children with mild-to-moderate contractures of 2-3 fingers for restoration of the hand function, minimal donor site morbidity.

  11. pn karimi'*, sm. maru', jm bururia', kam kuria' and pa odhiamboz

    African Journals Online (AJOL)

    The organism is a cause of many diseases such as skin infections, conjunctivitis, septicemia, endocarditis, osteomyelitis, pneumonia, mastitis, enteritis, food poisoning, toxic shock syndrome and scalded skin symdrome [2]. Nasal carriage of S. aureus has been identified as the most important risk factor for the acquisition of ...

  12. Skin Allergy Quiz

    Science.gov (United States)

    ... time. Some common medications that can cause skin allergy include penicillin, sulfa drugs, barbiturates and anticonvulsants just to mention a few. Some of the symptoms from drug allergies might be hives, skin rash, itchy skin or ...

  13. Allergy testing - skin

    Science.gov (United States)

    ... allergy skin tests if you have: Hay fever ( allergic rhinitis ) and asthma symptoms that are not well controlled with medicine Hives and angioedema Food allergies Skin rashes ( dermatitis ), in which the skin ...

  14. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

    Science.gov (United States)

    Wimplinger, Isabella; Rauch, Anita; Orth, Ulrike; Schwarzer, Ulrich; Trautmann, Udo; Kutsche, Kerstin

    2007-01-01

    The microphthalmia with linear skin defects (MLS or MIDAS) syndrome is a rare X-linked dominant inherited disorder with male lethality, associated with segmental aneuploidy of the Xp22.2 region in most of the cases. However, we recently described heterozygous sequence alterations in a single gene, HCCS, in females with MLS. Beside the classical MLS phenotype, occasional features such as sclerocornea, agenesis of the corpus callosum, and congenital heart defects can occur. Although the majority of cases are sporadic, mother-to-daughter transmission has been observed and a high intra- and interfamilial phenotypic variability exists. We describe an asymptomatic mother and her daughter presenting with the typical features of MLS syndrome. By cytogenetic analysis both females were found to have a terminal Xp deletion with the breakpoint in Xp22.2, mapping near to or within the MSL3L1 gene which is located centromeric to HCCS. FISH analysis revealed that the mother is a mosaic with 45,X(11)/46,X,del(X)(p22.2)(89), while in all cells of the MLS-affected daughter a hybridization pattern consistent with a 46,X,del(X)(p22.2) karyotype was detected. By haplotype analysis we identified the paternal X chromosome of the mother to carry the terminal Xp deletion. X-inactivation studies showed a completely skewed pattern in mother and daughter with the deleted X chromosome to be preferentially inactivated in their peripheral blood cells. We suggest that both chromosomal mosaicism as well as functional X chromosome mosaicism could contribute to the lack of any typical MLS feature in individuals with a heterozygous MLS-associated mutation. The 45,X cell population, that most likely is also present in other tissues of the mother, might have protected her from developing MLS. Nonetheless, a non-random X-inactivation pattern in favor of activity of the wild-type X chromosome in the early blastocyte could also account for the apparent lack of any disease sign in this female.

  15. pn karimi'*, sm maru', jm bururia', kam kuria' and pa odhiamboz

    African Journals Online (AJOL)

    Prevalence and Antimicrobial Susceptibility of Staphylococcus aureus at the Kenyatta National. Hospital, Nairobi. P.N. KARIMI'*, S.M. ... choose suitable drugs in the management of wounds for hospitalized patients. Key words: Prevalence ... poisoning, toxic shock syndrome and scalded skin syndrome [2]. Nasal carriage of ...

  16. Dermatological Emergencies: Current Trends in Management

    African Journals Online (AJOL)

    opsig

    include the following: 1. Stevens Johnson syndrome –Toxic epidermal necrolysis. 2. Pemphigus vulgaris. 3. Staphylococcal scalded skin syndrome. 4. Lepra reaction. 5. Angioedema. The effective management of each of the above listed conditions is possible only when the underlying pathogenic mechanism is clear to the.

  17. Reviews Skin bleaching: A neglected form of injury and threat to ...

    African Journals Online (AJOL)

    opperwjj

    can lead to fragile skin, poor wound healing, scarring and the need for corrective surgery. (Ajose, 2005). Other more ... Cushing's syndrome (hormone disorder), insomnia, memory loss, tremors, speech and hearing .... and abnormalities associated with skin bleaching such as Cushing syndrome (Ajose, 2005;. Mahé et al.

  18. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  19. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  20. INFANTILE IATROGENIC CUSHING'S SYNDROME

    OpenAIRE

    Katar, Selahattin; Akdeniz, Sedat; ?zbek, M Nuri; Yarami?, Ahmet

    2008-01-01

    High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing's syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.

  1. Infantile iatrogenic Cushing's syndrome.

    Science.gov (United States)

    Katar, Selahattin; Akdeniz, Sedat; Ozbek, M Nuri; Yaramiş, Ahmet

    2008-01-01

    High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing's syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.

  2. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Niederstadt, T. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie; Kurlemann, G. [Muenster Univ. (Germany). Medizinische Fakultaet

    2007-09-15

    Neurocutaneous Syndromes or phakomatoses are a heterogenous group of congenital diseases. They are characterized by dysplasias of tissues derived from the neuroektoderm. Skin alterations may be helpful in the interpretation of cerebral lesions. Recently, the genetic and pathophysiologic alterations of many phakomatoses have been elucidated. In this paper the radiologic findings and clinical signs of the most common neurocutaneous diseases (Neurofibromatosis 1 and 2, Tuberous Sclerosis Complex and Sturge Weber Syndrome) will be discussed. (orig.)

  3. Estrogens and aging skin

    OpenAIRE

    Thornton, M. Julie

    2013-01-01

    Estrogen deficiency following menopause results in atrophic skin changes and acceleration of skin aging. Estrogens significantly modulate skin physiology, targeting keratinocytes, fibroblasts, melanocytes, hair follicles and sebaceous glands, and improve angiogenesis, wound healing and immune responses. Estrogen insufficiency decreases defense against oxidative stress; skin becomes thinner with less collagen, decreased elasticity, increased wrinkling, increased dryness and reduced vascularity...

  4. Proteus syndrome : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Seon Young [Korea Veterans Hospital, Seoul (Korea, Republic of)

    1998-08-01

    Proteus syndrome is a rare congenital hamartomatous condition with a variety of abnormalities affecting all three germ layers including overgrowth of various parts of the body, hemihypertrophy, unusual skeletal malformation, skin lesions, and various tumors. I describe the radiologic findings in a 12 year-old boy with Proteus syndrome. Computed tomography and magnetic resonance imaging are very useful for the specific diagnosis.

  5. Rhupus syndrome: a case report.

    Science.gov (United States)

    Akpinar, Yesim; Yalcin, Ülker Karagece

    2017-09-01

    Rhupus syndrome is a rare overlap syndrome that can be observed together with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). We report the case of a young male patient diagnosed with SLE due to new skin findings and also diagnosed with RA 3 years earlier.

  6. Cowden syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Chermi, Zied Mohamed; Marrekchi, Slaheddine; Raida, Ben Salah; Boudaya, Sonia; Mseddi, Madiha; Jalel, Meziou Taha; Turki, Hamida

    2011-03-26

    Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome. Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed. The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.

  7. Skin Cancer Can Strike Anyone

    Science.gov (United States)

    ... this page please turn Javascript on. Feature: Skin Cancer Skin Cancer Can Strike Anyone Past Issues / Summer 2013 Table ... 76,690; deaths: 9,480. Read More "Skin Cancer" Articles Skin Cancer Can Strike Anyone / Skin Cancer: Biology, Risk ...

  8. Skin cancer in skin of color.

    Science.gov (United States)

    Bradford, Porcia T

    2009-01-01

    In general, skin cancer is uncommon in people of color when compared to Caucasians. When it does occur, it is often associated with increased morbidity and mortality. Differences in survival rates may be attributed to skin cancers being diagnosed at a more advanced stage, and socioeconomic factors such as lack of adequate insurance coverage and lack of transportation can function as barriers to timely diagnosis and early treatment. In addition to advanced stage at presentation, malignant skin lesions in skin of color often present in an atypical fashion. Because skin cancer prevention and screening practices historically have been lower among Hispanics, Blacks, and Asians, and given the changing demographics in the United States, interventions that are tailored to each of these groups will be needed. Public educational campaigns should be expanded to educate people of all skin types with emphasis on skin cancers occurring in areas not exposed to the sun (Byrd-Miles et al., 2007), since sunlight is not as important an etiologic factor in the pathogenesis of skin cancer in people of color. Dermatologists and primary care physicians should instruct their darker-skinned patients on how to perform routine skin self-examinations. Physicians should also encourage patients to ask their specialists such as their gynecologist, dentist, and ophthalmologist to look for abnormal pigmentation during routine exams. To reduce the burden of skin cancer, several prevention methods for all people have been strongly encouraged, including monthly self-examinations, daily use of SPF 30 or greater sunscreen, sunglasses with UV-absorbing lenses, and avoiding tanning booths (American Cancer Society, 2008) (see Table 7). In addition, recommendations for clinicians to promote the prevention of skin cancer in skin of color have also been made, including closely monitoring changing pigmented lesions on the palms and soles and hyperkeratotic or poorly healing ulcers in immunosuppressed patients

  9. Marine Collagen Peptides from the Skin of Nile Tilapia (Oreochromis niloticus): Characterization and Wound Healing Evaluation.

    Science.gov (United States)

    Hu, Zhang; Yang, Ping; Zhou, Chunxia; Li, Sidong; Hong, Pengzhi

    2017-03-30

    Burns can cause tremendous economic problems associated with irreparable harm to patients and their families. To characterize marine collagen peptides (MCPs) from the skin of Nile tilapia ( Oreochromis niloticus ), molecular weight distribution and amino acid composition of MCPs were determined, and Fourier transform infrared spectroscopy (FTIR) was used to analyze the chemical structure. Meanwhile, to evaluate the wound healing activity, in vitro and in vivo experiments were carried out. The results showed that MCPs prepared from the skin of Nile tilapia by composite enzymatic hydrolysis were composed of polypeptides with different molecular weights and the contents of polypeptides with molecular weights of less than 5 kDa accounted for 99.14%. From the amino acid composition, the majority of residues, accounting for over 58% of the total residues in MCPs, were hydrophilic. FTIR indicated that the main molecular conformations inside MCPs were random coil. In vitro scratch assay showed that there were significant effects on the scratch closure by the treatment of MCPs with the concentration of 50.0 μg/mL. In the experiments of deep partial-thickness scald wound in rabbits, MCPs could enhance the process of wound healing. Therefore, MCPs from the skin of Nile tilapia ( O. niloticus ) have promising applications in wound care.

  10. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  11. Reduction in skin grafting after the introduction of hydrofiber dressings in partial thickness burns: a comparison between a hydrofiber and silver sulphadiazine.

    Science.gov (United States)

    Dokter, J; Boxma, H; Oen, I M M H; van Baar, M E; van der Vlies, C H

    2013-02-01

    The aim of this study was to compare clinical outcome of children with scald burns treated with a hydrofiber dressing (Aquacel(®), Convatec Inc.) with the former standard of care with silver sulfadiazine (Flammazine(®); Solvay Pharmaceuticals), considering surgical intervention and length of stay (LOS). A retrospective study of all consecutive children from zero to four years with primary scald burns up to 10% admitted to the Burn Centre of the Maasstad Hospital Rotterdam between January 1987 and January 2010 were reviewed. For data collection a prospective computerized database was used. For comparison the study period was divided into two periods representing the period before and after the introduction of the hydrofiber dressing (HFD), respectively 1987-1999 (period 1) and 1999-2010 (period 2). Over the whole study period 27.3% of 502 patients treated with silver sulfadiazine (Ag-SD) underwent surgery, while before the introduction of HFD 30.5% of 338 Ag-SD treated patients were operated upon. After the introduction of the HFD 20.7% of 164 patients treated with Ag-SD eventually underwent skin grafting, a significant difference with the 11.6% of 302 patients whose wounds were dressed with HFD (pburns up to 10% TBSA burned in children aged 0-4 years after the introduction of hydrofiber dressings. The mode of treatment with this wound dressing also limited hospital length of stay. Copyright © 2012 Elsevier Ltd and ISBI. All rights reserved.

  12. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  13. Oily skin: an overview.

    Science.gov (United States)

    Sakuma, Thais H; Maibach, Howard I

    2012-01-01

    Oily skin (seborrhea) is a common cosmetic problem that occurs when oversized sebaceous glands produce excessive amounts of sebum giving the appearance of shiny and greasy skin. This paper overviews the main concepts of sebaceous gland anatomy and physiology, including the biosynthesis, storage and release of sebum, as well as its relationship to skin hydration and water barrier function. We also address how skin oiliness may vary according to diet, age, gender, ethnicity and hot humid climates. The deeper understanding of this skin type provides the opportunity to better guide patients regarding skin care and also assist in the development of sebosuppressive agents. Copyright © 2012 S. Karger AG, Basel.

  14. Munchausen syndrome as dermatitis simulata.

    Science.gov (United States)

    Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

    2012-01-01

    Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome.

  15. Skin Stem Cells in Skin Cell Therapy

    Directory of Open Access Journals (Sweden)

    Mollapour Sisakht

    2015-12-01

    Full Text Available Context Preclinical and clinical research has shown that stem cell therapy is a promising therapeutic option for many diseases. This article describes skin stem cells sources and their therapeutic applications. Evidence Acquisition Compared with conventional methods, cell therapy reduces the surgical burden for patients because it is simple and less time-consuming. Skin cell therapy has been developed for variety of diseases. By isolation of the skin stem cell from the niche, in vitro expansion and transplantation of cells offers a surprising healing capacity profile. Results Stem cells located in skin cells have shown interesting properties such as plasticity, transdifferentiation, and specificity. Mesenchymal cells of the dermis, hypodermis, and other sources are currently being investigated to promote regeneration. Conclusions Because skin stem cells are highly accessible from autologous sources and their immunological profile is unique, they are ideal for therapeutic approaches. Optimization of administrative routes requires more investigation own to the lack of a standard protocol.

  16. Neuromodulators for Aging Skin

    Science.gov (United States)

    ... Hands Age Spots Aging Skin Birthmarks Burn Scars Cellulite Crow's Feet Droopy Eyelids Excess Fat Excessive Sweating ... Hands Age Spots Aging Skin Birthmarks Burn Scars Cellulite Crow's Feet Droopy Eyelids Excess Fat Excessive Sweating ...

  17. Examine Your Skin

    Medline Plus

    Full Text Available ... Store In Memory Melanoma Info Melanoma Facts Melanoma Prevention Sunscreen Suggestions Examine Your Skin Newly Diagnosed? Understanding ... video. UPDATED: November 23, 2016 Melanoma Facts Melanoma Prevention Sunscreen Suggestions Examine Your Skin Newly Diagnosed? Understanding ...

  18. Necrotizing Skin Infections

    Science.gov (United States)

    ... Summer Camp Tips for Kids With Asthma, Allergies Antioxidants: The Good Health Helpers As Stroke 'Liquefies' Brain ... Video) Skin Cancer Additional Content Medical News Necrotizing Skin Infections By A. Damian Dhar, MD, JD, Private ...

  19. Basal cell skin cancer

    Science.gov (United States)

    Basal cell skin cancer almost never spreads. If it is left untreated, it may spread into surrounding areas and nearby tissues and bone. In these cases, treatment can injure the appearance of the skin.

  20. Skin care and incontinence

    Science.gov (United States)

    ... Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Skin care and incontinence URL of this page: //medlineplus.gov/ency/article/003976.htm Skin care and incontinence To use ...

  1. Skin lesion of blastomycosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000865.htm Skin lesion of blastomycosis To use the sharing features on this page, please enable JavaScript. A skin lesion of blastomycosis is a symptom of an infection ...

  2. Skin lesion aspiration

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/003451.htm Skin lesion aspiration To use the sharing features on this page, please enable JavaScript. Skin lesion aspiration is the withdrawal of fluid from a ...

  3. Examine Your Skin

    Medline Plus

    Full Text Available ... Suggestions Examine Your Skin Newly Diagnosed? Understanding Your Pathology Biopsy: The First Step Sentinel Node Biopsy Melanoma ... Suggestions Examine Your Skin Newly Diagnosed? Understanding Your Pathology Biopsy: The First Step Sentinel Node Biopsy Melanoma ...

  4. [Cockayne syndrome].

    Science.gov (United States)

    Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao

    2011-02-01

    Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

  5. Psychoneuroimmunology and the Skin.

    Science.gov (United States)

    Honeyman, Juan F

    2016-08-23

    The nervous, immune, endocrine and integumentary systems are closely related and interact in a number of normal and pathological conditions. Nervous system mediators may bring about direct changes to the skin or may induce the release of immunological or hormonal mediators that cause pathological changes to the skin. This article reviews the psychological mechanisms involved in the development of skin diseases.

  6. Microbiome and skin diseases

    NARCIS (Netherlands)

    Zeeuwen, P.L.; Kleerebezem, M.; Timmerman, H.M.; Schalkwijk, J.

    2013-01-01

    Purpose of review: This article reviews recent findings on the skin microbiome. It provides an update on the current understanding of the role of microbiota in healthy skin and in inflammatory and allergic skin diseases. Recent findings: Advances in computing and high-throughput sequencing

  7. Microbiome and skin diseases

    NARCIS (Netherlands)

    Zeeuwen, P.L.J.M.; Kleerebezem, M.; Timmerman, H.M.; Schalkwijk, J.

    2013-01-01

    PURPOSE OF REVIEW: This article reviews recent findings on the skin microbiome. It provides an update on the current understanding of the role of microbiota in healthy skin and in inflammatory and allergic skin diseases. RECENT FINDINGS: Advances in computing and high-throughput sequencing

  8. On skin expansion.

    Science.gov (United States)

    Pamplona, Djenane C; Velloso, Raquel Q; Radwanski, Henrique N

    2014-01-01

    This article discusses skin expansion without considering cellular growth of the skin. An in vivo analysis was carried out that involved expansion at three different sites on one patient, allowing for the observation of the relaxation process. Those measurements were used to characterize the human skin of the thorax during the surgical process of skin expansion. A comparison between the in vivo results and the numerical finite elements model of the expansion was used to identify the material elastic parameters of the skin of the thorax of that patient. Delfino's constitutive equation was chosen to model the in vivo results. The skin is considered to be an isotropic, homogeneous, hyperelastic, and incompressible membrane. When the skin is extended, such as with expanders, the collagen fibers are also extended and cause stiffening in the skin, which results in increasing resistance to expansion or further stretching. We observed this phenomenon as an increase in the parameters as subsequent expansions continued. The number and shape of the skin expanders used in expansions were also studied, both mathematically and experimentally. The choice of the site where the expansion should be performed is discussed to enlighten problems that can lead to frustrated skin expansions. These results are very encouraging and provide insight into our understanding of the behavior of stretched skin by expansion. To our knowledge, this study has provided results that considerably improve our understanding of the behavior of human skin under expansion. Copyright © 2013 Elsevier Ltd. All rights reserved.

  9. Skin lesion removal-aftercare

    Science.gov (United States)

    Shave excision - skin aftercare; Excision of skin lesions - benign aftercare; Skin lesion removal - benign aftercare; Cryosurgery - skin aftercare; BCC - removal aftercare; Basal cell cancer - removal aftercare; Actinic keratosis - removal aftercare; Wart - ...

  10. Gram stain of skin lesion

    Science.gov (United States)

    Skin lesion gram stain ... skin sore. This procedure is called a skin lesion biopsy . Before the biopsy, your provider will numb ... means bacteria have been found in the skin lesion. Further tests are needed to confirm the results. ...

  11. Skin barrier function

    DEFF Research Database (Denmark)

    2016-01-01

    on the subject. It covers new basic research on skin markers, including results on filaggrin and on methods for the assessment of the barrier function. Biological variation and aspects of skin barrier function restoration are discussed as well. Further sections are dedicated to clinical implications of skin...... barrier integrity, factors influencing the penetration of the skin, influence of wet work, and guidance for prevention and saving the barrier. Distinguished researchers have contributed to this book, providing a comprehensive and thorough overview of the skin barrier function. Researchers in the field...

  12. Kindler′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Neelam Suman

    2014-01-01

    Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

  13. The differential diagnosis of familial lentiginosis syndromes.

    Science.gov (United States)

    Lodish, Maya B; Stratakis, Constantine A

    2011-09-01

    Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their recognition and treatment. We will discuss the clinical presentation of these disorders, with a focus on the dermatological manifestations, and will provide an update on the molecular mechanisms involved. Recognition of cutaneous markers associated with these rare familial cancer syndromes provides the opportunity to pursue early surveillance for malignancies, as well as genetic counseling.

  14. Skin disease in dermatomyositis.

    Science.gov (United States)

    Zaba, Lisa C; Fiorentino, David F

    2012-11-01

    This review will provide the clinician with an update on the pathogenesis, clinical manifestations, and therapy for skin disease in dermatomyositis. Recent insights into the role for interferon in skin disease as well as the development and validation of quantitative tools to measure skin disease activity allow the possibility that, for the first time, dermatomyositis skin disease can serve as a valid outcome for clinical trials of targeted therapies. Also, the increasing appreciation of the heterogeneity of skin disease in dermatomyositis has already provided evidence that clinical subtypes of disease can provide important prognostic and diagnostic information to the clinician. It is becoming apparent that the skin inflammation alone has implications for systemic and malignancy risk in dermatomyositis patients, and that there may be several pathogenic similarities between muscle and skin inflammation in dermatomyositis. Recent data on therapy for calcinosis cutis highlights that more prospective studies are needed to evaluate how best to manage all manifestations of skin inflammation in dermatomyositis. A more careful description and classification of skin disease in dermatomyositis may allow the clinician to predict more accurately which patients will be at higher risk for cancer, lung disease, or muscle inflammation. In addition, given the similarities in perturbed gene expression between skin and muscle tissue, it is likely that analysis of a more readily evaluable target organ such as skin might shed light on mechanisms of disease propagation throughout the body.

  15. Sensitive skin: An overview

    Directory of Open Access Journals (Sweden)

    Arun C Inamadar

    2013-01-01

    Full Text Available Sensitive skin is less tolerant to frequent and prolonged use of cosmetics and toiletries. It is self-diagnosed and typically unaccompanied by any obvious physical signs of irritation. With the change in lifestyle and also with increased opportunity to use many new brands of cosmetics and toiletries, there has been an increase in females complaining of unique sensation in their facial skin. Sensitive skin presents as smarting, burning, stinging, itching, and/or tight sensation in their facial skin. The condition is found in more than 50% of women and 40% of men, creating a sizable demand for products designed to minimize skin sensitivity. Good numbers of invasive and non-invasive tests are designed to evaluate and predict the sensitive skin. Management includes guidelines for selecting suitable cosmetics and toiletries in sensitive skin individuals.

  16. Sensitive skin: an overview.

    Science.gov (United States)

    Inamadar, Arun C; Palit, Aparna

    2013-01-01

    Sensitive skin is less tolerant to frequent and prolonged use of cosmetics and toiletries. It is self-diagnosed and typically unaccompanied by any obvious physical signs of irritation. With the change in lifestyle and also with increased opportunity to use many new brands of cosmetics and toiletries, there has been an increase in females complaining of unique sensation in their facial skin. Sensitive skin presents as smarting, burning, stinging, itching, and/or tight sensation in their facial skin. The condition is found in more than 50% of women and 40% of men, creating a sizable demand for products designed to minimize skin sensitivity. Good numbers of invasive and non-invasive tests are designed to evaluate and predict the sensitive skin. Management includes guidelines for selecting suitable cosmetics and toiletries in sensitive skin individuals.

  17. Skin absorption through atopic dermatitis skin

    DEFF Research Database (Denmark)

    Halling-Overgaard, A-S; Kezic, S; Jakasa, I

    2017-01-01

    Patients with atopic dermatitis have skin barrier impairment in both lesional and non-lesional skin. They are typically exposed to emollients daily and topical anti-inflammatory medicaments intermittently, hereby increasing the risk of developing contact allergy and systemic exposed to chemicals...... ingredients found in these topical preparations. We systematically searched for studies that investigated skin absorption of various penetrants, including medicaments, in atopic dermatitis patients, but also animals with experimentally induced dermatitis. We identified 40 articles, i.e. 11 human studies...... examining model penetrants, 26 human studies examining atopic dermatitis drugs and 3 animal studies. We conclude that atopic dermatitis patients have nearly two-fold increased skin absorption when compared to healthy controls. There is a need for well-designed epidemiological and dermato...

  18. Ehlers-Danlos Syndrome Hypermobility Type

    Science.gov (United States)

    ... to move out of place (dislocate) frequently. The shoulder, knee, and jaw are some of the joints that dislocate most often. The skin of a person with Ehlers-Danlos syndrome hypermobility type is often soft or velvety and ...

  19. [Clinical analysis of Sweet syndrome with myelodysplasia syndrome].

    Science.gov (United States)

    Wang, Y N; Zhuang, J L; Zhao, W L; Fang, K; Liu, Y H; Jin, H Z; Li, L

    2016-06-14

    To study the clinical, histopathological and therapeutic features of Sweet syndrome with myelodysplastic syndrome (MDS). The clinical data of 3 patients with Sweet syndrome and MDS diagnosed at Peking Union Medical College Hospital between October 1988 and November 2015 were reviewed. The laboratory test results, histopathological findings, and therapeutic regimens of these patients were analyzed retrospectively. The three cases were 29, 49 and 49 years old, respectively, including 2 females and 1 male. Two patients presented with Sweet syndrome before the onset of MDS, the other one patient developed Sweet syndrome and MDS simultaneously. The rash of all of these patients manifested as red painful papules in face, trunk and limbs, as well as edematous plaques and nodules. Histopathological examination of skin confirmed the diagnosis of Sweet syndrome. Complete blood count showed cytopenia of at least one lineage. Bone marrow cytology showed dysplasia of hematopoietic cells with abnormal high proportion of myeloblasts. Bone marrow pathology results were normal in 2 patients, while hypoplasia of hematopoietic tissue with excess adipose tissue was found in 1 patient. All the patients were treated with corticosteroid or immunosuppressants and skin lesions alleviated. But relapse was common in process of corticosteroid reduction. Sweet syndrome may be a precursor of MDS. The clinical manifestations, histopathological and hematological findings of these rare cases are characteristic. Corticosteroid indicates short-term response. The patients who had recurrent skin lesions should be further examined to exclude MDS.

  20. COMPLEX REGIONAL PAIN SYNDROME IN CHILDREN

    OpenAIRE

    Milan Špegel

    2002-01-01

    Background. In children with unexplained pain in distal part of extremity associated with edema, abnormal skin color, temperature change, complex regional pain syndrome (CRPS) must be considered. This pain syndrome requires the presence of regional pain and sensory changes associated with abnormal skin color, temperature change, abnormal sudomotor activity or edema. Signs and symptoms are disproportionate to the inciting event. There are two types of CRPS: type I occurs without a definable ne...

  1. Ramsay hunt syndrome (herpes zoster oticus

    Directory of Open Access Journals (Sweden)

    S Karthiga Kannan

    2012-01-01

    Full Text Available Ramsay Hunt syndrome (RHS is defined as an acute peripheral facial neuropathy caused by the reactivated latent varicella zoster virus (VZV in the geniculate ganglion; characterized with erythematous vesicular rash of the skin of the ear canal, auricle, facial skin, oral mucosa and facial palsy (also known as herpes zoster oticus. This article reports a case of Ramsay Hunt Syndrome (RHS in a 37-year-old male patient depicting the classical signs.

  2. Goldenhar syndrome.

    Science.gov (United States)

    Hossain, M M; Akhonda, A H; Islam, M F; Akonjee, A R

    2012-07-01

    A female child of 10 months age from Netrokona, Bangladesh was admitted in the department of ophthalmology, Mymensingh Medical College Hospital, Mymensingh on 20.01.12 with the complaints of swelling on both her eyes and swelling of area in front of both ears. The child is mentally alert. Her fixation reflex is central, steady and maintained. On examination whitish growth on limbus, hard in consistency, non mobile, non tender, fixed with underlying structure both eyes. There are pre auricular skin tags. There is no cardiac abnormality and ENT consultation done reveals normal except pre-auricular ear tags. X ray of mandible and maxilla shows hypoplasia of maxilla and mandible. Clinical examination and investigations confirmed the diagnosis as Goldenhar syndrome.

  3. Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

    Directory of Open Access Journals (Sweden)

    Erina N. Foster

    2005-01-01

    Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

  4. Estimating the time and temperature relationship for causation of deep-partial thickness skin burns.

    Science.gov (United States)

    Abraham, John P; Plourde, Brian; Vallez, Lauren; Stark, John; Diller, Kenneth R

    2015-12-01

    The objective of this study is to develop and present a simple procedure for evaluating the temperature and exposure-time conditions that lead to causation of a deep-partial thickness burn and the effect that the immediate post-burn thermal environment can have on the process. A computational model has been designed and applied to predict the time required for skin burns to reach a deep-partial thickness level of injury. The model includes multiple tissue layers including the epidermis, dermis, hypodermis, and subcutaneous tissue. Simulated exposure temperatures ranged from 62.8 to 87.8°C (145-190°F). Two scenarios were investigated. The first and worst case scenario was a direct exposure to water (characterized by a large convection coefficient) with the clothing left on the skin following the exposure. A second case consisted of a scald insult followed immediately by the skin being washed with cool water (20°C). For both cases, an Arrhenius injury model was applied whereby the extent and depth of injury were calculated and compared for the different post-burn treatments. In addition, injury values were compared with experiment data from the literature to assess verification of the numerical methodology. It was found that the clinical observations of injury extent agreed with the calculated values. Furthermore, inundation with cool water decreased skin temperatures more quickly than the clothing insulating case and led to a modest decrease in the burn extent. Copyright © 2015 Elsevier Ltd and ISBI. All rights reserved.

  5. Mouse Genetic Models Reveal Surprising Functions of IκB Kinase Alpha in Skin Development and Skin Carcinogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Xia, Xiaojun [The Methodist Hospital Research Institute, Houston, TX 77030 (United States); Park, Eunmi [Department of Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115 (United States); Fischer, Susan M. [Department of Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, TX 78967 (United States); Hu, Yinling, E-mail: huy2@mail.nih.gov [Cancer and Inflammation Program, Center for Cancer Research, Frederick National Laboratory for Cancer Research, Frederick, MD 21701 (United States)

    2013-02-15

    Gene knockout studies unexpectedly reveal a pivotal role for IκB kinase alpha (IKKα) in mouse embryonic skin development. Skin carcinogenesis experiments show that Ikkα heterozygous mice are highly susceptible to chemical carcinogen or ultraviolet B light (UVB) induced benign and malignant skin tumors in comparison to wild-type mice. IKKα deletion mediated by keratin 5 (K5).Cre or K15.Cre in keratinocytes induces epidermal hyperplasia and spontaneous skin squamous cell carcinomas (SCCs) in Ikkα floxed mice. On the other hand, transgenic mice overexpressing IKKα in the epidermis, under the control of a truncated loricrin promoter or K5 promoter, develop normal skin and show no defects in the formation of the epidermis and other epithelial organs, and the transgenic IKKα represses chemical carcinogen or UVB induced skin carcinogenesis. Moreover, IKKα deletion mediated by a mutation, which generates a stop codon in the Ikkα gene, has been reported in a human autosomal recessive lethal syndrome. Downregulated IKKα and Ikkα mutations and deletions are found in human skin SCCs. The collective evidence not only highlights the importance of IKKα in skin development, maintaining skin homeostasis, and preventing skin carcinogenesis, but also demonstrates that mouse models are extremely valuable tools for revealing the mechanisms underlying these biological events, leading our studies from bench side to bedside.

  6. Griscelli syndrome.

    Science.gov (United States)

    Emanuel, Patrick O; Sternberg, Lauren J; Phelps, Robert G

    2007-01-01

    The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, pan-cytopenia, and disseminated intravascular coagulation. She had developed normally for the first year of life. At 13 months she became progressively lethargic and developed floppy muscle tone; a delay in mental and motor milestones was recognized. Results of a metabolic workup were negative. On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) and white eyebrows and body hair. Her maternal grandfather and granduncles had silver hair since childhood, but were without health problems. A maternal family member was said to have light skin. The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. The melanocytes were large and distended with a large volume of melanin (Figure 2). The adjacent keratinocytes were completely devoid of melanin. Application of Masson-Fontana ammoniac silver stain highlighted prominent melanocytic melanin and a relative paucity of melanin in the adjacent keratinocytes (Figure 3). Microscopic examination of her hair revealed clumps of melanin of various sizes and shapes irregularly distributed throughout the hair shaft. Ultrastructural examination of the epidermis showed the melanocytes were distended by an accumulation of large stage IV mature melanosomes. Peripheral blood smear failed to show abnormal granules, even after repeated examination. Based on the clinical features and the pathologic findings, a diagnosis of Griscelli syndrome type 2 was made.

  7. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  8. Ultrasound skin imaging.

    Science.gov (United States)

    Alfageme Roldán, F

    2014-12-01

    The interaction of high-frequency ultrasound waves with the skin provides the basis for noninvasive, fast, and accessible diagnostic imaging. This tool is increasingly used in skin cancer and inflammatory conditions as well as in cosmetic dermatology. This article reviews the basic principles of skin ultrasound and its applications in the different areas of dermatology. Copyright © 2013 Elsevier España, S.L.U. y AEDV. All rights reserved.

  9. The skin microbiome

    OpenAIRE

    Grice, Elizabeth A.; Segre, Julia A.

    2011-01-01

    The skin is the human body’s largest organ, colonized by a diverse milieu of microorganisms, most of which are harmless or even beneficial to their host. Colonization is driven by the ecology of the skin surface, which is highly variable depending on topographical location, endogenous host factors and exogenous environmental factors. The cutaneous innate and adaptive immune responses can modulate the skin microbiota, but the microbiota also functions in educating the immune system. The develo...

  10. THE BLEACHING SYNDROME: MANIFESTATION OF A POST ...

    African Journals Online (AJOL)

    User

    KEY TERMS: Bleaching Syndrome; skin color; colonization; women; light skin. Author details: Room 224 ... In the aftermath of Western colonization African peoples have experienced pathological, post-colonial influences. ..... Change in the Spanish Sixteenth-century Colonization of Hispaniola and Florida. East. Lansing: ...

  11. Touraine-Solente-Gole syndrome.

    Science.gov (United States)

    Doshi, Dharmil

    2017-10-17

    Touraine-Solente-Gole syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of Touraine-Solente-Gole syndrome with bilateral blepharoptosis as presenting feature.

  12. Skin and Soft Tissue Infections.

    Science.gov (United States)

    Ramakrishnan, Kalyanakrishnan; Salinas, Robert C; Agudelo Higuita, Nelson Ivan

    2015-09-15

    Skin and soft tissue infections result from microbial invasion of the skin and its supporting structures. Management is determined by the severity and location of the infection and by patient comorbidities. Infections can be classified as simple (uncomplicated) or complicated (necrotizing or nonnecrotizing), or as suppurative or nonsuppurative. Most community-acquired infections are caused by methicillin-resistant Staphylococcus aureus and beta-hemolytic streptococcus. Simple infections are usually monomicrobial and present with localized clinical findings. In contrast, complicated infections can be mono- or polymicrobial and may present with systemic inflammatory response syndrome. The diagnosis is based on clinical evaluation. Laboratory testing may be required to confirm an uncertain diagnosis, evaluate for deep infections or sepsis, determine the need for inpatient care, and evaluate and treat comorbidities. Initial antimicrobial choice is empiric, and in simple infections should cover Staphylococcus and Streptococcus species. Patients with complicated infections, including suspected necrotizing fasciitis and gangrene, require empiric polymicrobial antibiotic coverage, inpatient treatment, and surgical consultation for debridement. Superficial and small abscesses respond well to drainage and seldom require antibiotics. Immunocompromised patients require early treatment and antimicrobial coverage for possible atypical organisms.

  13. ACYCLOVIR INDUCED STEVEN JOHNSON SYNDROME

    Directory of Open Access Journals (Sweden)

    Praveena

    2015-04-01

    Full Text Available Acyclovir, anti - viral drug rarely causes Stevens - Johnson syndrome (SJS. Steven Johnson syndrome is a rare, life threatening disorder characterized by skin condition with bullous formation, ocular lesions, genital and anal lesions/ulcers. It’s usually a reaction to a medication or an infection. Often Steven Johnson syndrome begins with flu - like symptoms followed by a painful red or purplish rash that spreads and blisters. Then the top layer of the affected skin dies and sheds. This case report is about a 40 year old male patient who came to the medicine out p atient department with blisters on palms and soles and characteristic hemorrhagic crusting of mouth and lips. Initial diagnosis of Steven Johnson Syndrome was made and treated with steroids. Eruption usually healed without sequelae

  14. Sweet syndrome: a painful reality.

    Science.gov (United States)

    Khan, Uqba; Rizvi, Humaira; Ali, Farman; Lebovic, Daniel

    2016-12-23

    Sweet syndrome is a rare disorder that is manifested by constellation of clinical features, including fever, neutrophilic leucocytosis, raised painful plaques on skin and dermal infiltration by neutrophils. Numerous aetiological associations have been reported in the literature, including various haematological malignancies and drugs. Our case was peculiar because of association of capecitabine and Sweet syndrome in rectal cancer. We describe a case of a woman aged 57 years, with recently diagnosed stage III rectal cancer, developed painful erythematous rash over her face along with fever and headache. Skin biopsy was performed which revealed typical findings of Sweet syndrome. She was successfully treated with systemic steroids. Our case was an unusual presentation of Sweet syndrome in a patient with rectal adenocarcinoma treated with neoadjuvant capecitabine. 2016 BMJ Publishing Group Ltd.

  15. New experimental models of skin homeostasis and diseases.

    Science.gov (United States)

    Larcher, F; Espada, J; Díaz-Ley, B; Jaén, P; Juarranz, A; Quintanilla, M

    2015-01-01

    Homeostasis, whose regulation at the molecular level is still poorly understood, is intimately related to the functions of epidermal stem cells. Five research groups have been brought together to work on new in vitro and in vivo skin models through the SkinModel-CM program, under the auspices of the Spanish Autonomous Community of Madrid. This project aims to analyze the functions of DNA methyltransferase 1, endoglin, and podoplanin in epidermal stem cell activity, homeostasis, and skin cancer. These new models include 3-dimensional organotypic cultures, immunodeficient skin-humanized mice, and genetically modified mice. Another aim of the program is to use skin-humanized mice to model dermatoses such as Gorlin syndrome and xeroderma pigmentosum in order to optimize new protocols for photodynamic therapy. Copyright © 2013 Elsevier España, S.L.U. and AEDV. All rights reserved.

  16. Pathologies of the skin and its appendages in endocrine diseases

    Directory of Open Access Journals (Sweden)

    Hubert Arasiewicz

    2016-05-01

    Full Text Available Patients suffering from endocrine disorders often present a wide profile of skin lesions. In hyperthyroidism we observe hair loss, lower leg myxedema and onycholysis or, in the case of hormone deficiency, generalized swelling of the skin, which becomes cold and pale. Primary hyperparathyroidism is revealed by pruritus, presence of chronic urticaria or deposition of amorphous calcium salts. In hypoparathyroidism, the skin is dry while the nails become very brittle. Skin lesions in diabetes include necrobiosis lipoidica, granuloma annulare, scleroderma-like diabetic edema and acanthosis nigricans. Overactive pituitary gland is often manifested as acromegaly with hypertrophy of soft tissue thickening and hypertrichosis. The skin in the early stages of hypopituitarism feels swollen, is pale yellow and oily, and finally becomes alabaster and dry. The characteristic features of Cushing syndrome are central obesity, lunar face, buffalo hump, and striae. In Addison’s disease we observe hyperpigmentation. Hyperandrogenism in women leads to acne, hirsutism and virilization.

  17. Diagnosing Lynch Syndrome

    LENUS (Irish Health Repository)

    Gleeson, J

    2016-11-01

    Lynch Syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is a hereditary condition that increases an individual’s risk of developing a constellation of cancers. These most commonly arise in the colon, but also involve other solid organs such as the endometrium and ovaries in women, the stomach, brain and the skin. Ireland’s small population offers an opportunity to identify all those with Lynch Syndrome (LS) in the country, which would represent a powerful preventive opportunity to meaningfully impact on the incidence of cancer in Ireland.

  18. Reiter′s Syndrome

    Directory of Open Access Journals (Sweden)

    S S Savant

    1979-01-01

    Full Text Available A case of Reiter′s syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter′s syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  19. Apert′s Syndrome

    Directory of Open Access Journals (Sweden)

    B K Sohi

    1980-01-01

    Full Text Available A case of Apert′s syndrome in a one year old female child is described and literature reviewed. She was the first born of a young couple. She had congenital syndactyl of toes and fingers, acro-cephalic skull, flat facies, exophthalmos, hypertelorism and greasy skin. In addition to the typical radiological features of this syndrome which the patient showed, thickened first metacarpals forked at the base were also seen. There were two phalanges for each toe. Calcification was seen intracranially. These radiological features have not been mentioned so far in the literature reviewed.

  20. Skin Biophysical Characteristics in Patients with Keratoconus: A Controlled Study

    Directory of Open Access Journals (Sweden)

    Reza M. Robati

    2016-01-01

    Full Text Available Background. Keratoconus is a relatively common corneal disease causing significant visual disability. Individuals with connective tissue disorders that affect the skin such as Marfan’s syndrome and Ehlers-Danlos syndrome or patients with atopic dermatitis show an increased prevalence of keratoconus. It seems that there are some concurrent alterations of skin and cornea in patients with keratoconus. Objective. We plan to compare skin biophysical characteristics in patients with keratoconus and healthy controls. Methods. Forty patients with keratoconus (18 females and 22 males with mean (SD age of 33.32 (9.55 years (range 19–56 and 40 healthy controls were recruited to this study. Skin biophysical characteristics including cutaneous resonance running time (CRRT, stratum corneum hydration, and melanin values were measured in patients and controls. Results. The median CRRT, stratum corneum hydration, and melanin measurements were significantly lower in patients with keratoconus in comparison with healthy controls. Conclusion. There are some alterations of skin biophysical properties in patients with keratoconus. Therefore, the assessment of these skin parameters could provide us some clues to the possible common biophysical variations of cornea and skin tissue in diseases such as keratoconus.

  1. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  2. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  3. [Cockayne syndrome in two brothers].

    Science.gov (United States)

    Medeiros, J S; da Silva, E O; de Mello, R J; Fittipaldi, H; de Carvalho, M W

    1995-01-01

    We report the clinical history of two brothers with the classical Cockayne syndrome. The main manifestations consisted of cachectic dwarfism, mental retardation, intracranial calcifications, microcephaly, enophthalmos, senile appearance, joint hypomotility and skin photosensitivity. In one of these children, who died at 10 years of age of bronchopneumonia, necropsy studies revealed a variety of anomalies, mainly encephalic,which included an arachnoidal cyst at the base of the cerebellum, a defect apparently previously undescribed inpatients with this syndrome.

  4. Familial clustering of a rare syndrome

    OpenAIRE

    Jayashree Nadkarni; Hari Ganesh; Rashmi Dwivedi

    2011-01-01

    Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.

  5. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-04-20

    Apr 20, 2012 ... Wiedemann-Rautenstrauch syndrome;. Premature aging;. Milk teeth;. Nail dystrophy;. Cafe´ au lait skin patches. Abstract A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy.

  6. The oculocerebrocutaneous (Delleman-Oorthuys) syndrome

    NARCIS (Netherlands)

    Naafs, GG; van der Vliet, AM; Hew, JM

    We describe two cases of the so-called oculocerebrocutaneous syndrome, also known as the Delleman-Oorthuys syndrome. Both patients had characteristic congenital anomalies of the orbit, central nervous system and skin. The ocular and cerebral lesions were studied with CT and MRI.

  7. Allergy Skin Tests

    Science.gov (United States)

    ... Histamine. In most people, this substance causes a skin response. If you don't react to histamine, your ... days or more to produce results. A positive skin test means that you may be allergic to a particular substance. Bigger wheals usually indicate a greater degree of sensitivity. A ...

  8. Deformable skinning on bones

    DEFF Research Database (Denmark)

    Larsen, Bent Dalgaard; Petersen, Kim Steen; Jakobsen, Bjarke

    2001-01-01

    Applying skin to a model is a relatively simple task to implement. Nonetheless it seems that no good resource exists that describes both the concepts and math necessary to understand and implement skinning. The intention of this article is an attempt to give a thoroughly description of the theore...

  9. Skin tribology: Science friction?

    NARCIS (Netherlands)

    van der Heide, Emile; Zeng, Xiangqiong; Masen, Marc Arthur

    2013-01-01

    The application of tribological knowledge is not just restricted to optimizing mechanical and chemical engineering problems. In fact, effective solutions to friction and wear related questions can be found in our everyday life. An important part is related to skin tribology, as the human skin is

  10. Dark Skin No Shield from Deadly Skin Cancer

    Science.gov (United States)

    ... 166194.html Dark Skin No Shield From Deadly Skin Cancer Death rates from melanoma are higher for people ... deadly melanomas, an expert warns. This type of skin cancer can be affected by genetics and is far ...

  11. Skin Diseases: Skin and Sun—Not a good mix

    Science.gov (United States)

    ... Issues Skin Diseases Skin and Sun —Not a good mix Past Issues / Fall 2008 Table of Contents ... version of this page please turn Javascript on. Good skin care begins with sun safety. Whether it ...

  12. Hutchinson-Gilford progeria syndrome: a rare case report

    Directory of Open Access Journals (Sweden)

    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  13. A rare cause of acromegaly: McCune-Albright syndrome

    Directory of Open Access Journals (Sweden)

    Erdal Bodakçi

    2015-06-01

    Full Text Available McCune-Albright syndrome is characterized by polyostatic fibrous dysplasia, brown spots on the skin (café au lait pigmentation and autonomous endocrine hyperfunction. Early puberty and other endocrinological manifestations, such as acromegaly, gigantism and hypercortisolism are widely observed in the syndrome. Acromegaly is seen in 20% of patients. We report a case of acromegaly accompanied with this syndrome.

  14. Melting graft wound syndrome

    Directory of Open Access Journals (Sweden)

    Shiou-Mei Chen

    2017-09-01

    Full Text Available Melting graft wound syndrome is characterized by progressive epidermal loss from a previously well-taken skin graft, healed burn, or donor site. It may result in considerable morbidity and require prolonged treatment. We report a 23-year-old flame-burned patient with second- to third-degree burns involving more than 70% of the total body surface area, whose condition was complicated with septic shock. The patient presented with erosions and ulcers occurring on previously well-taken skin graft recipient sites over both legs and progressive epidermal loss on donor sites over the back. The patient's presentation was compatible with the diagnosis of melting graft wound syndrome, and we successfully treated the patient with debridement and supportive treatment.

  15. Bionanomaterials for skin regeneration

    CERN Document Server

    Leonida, Mihaela D

    2016-01-01

    This book gives a concise overview of bionanomaterials with applications for skin regeneration. The advantages and challenges of nanoscale materials are covered in detail, giving a basic view of the skin structure and conditions that require transdermal or topical applications. Medical applications, such as wound healing, care for burns, skin disease, and cosmetic care, such as aging of the skin and photodamage, and how they benefit from bionanomaterials, are described in detail. A final chapter is devoted to the ethical and social issues related to the use of bionanomaterials for skin regeneration. This is an ideal book for researchers in materials science, medical scientists specialized in dermatology, and cosmetic chemists working in formulations. It can also serve as a reference for nanotechnologists, dermatologists, microbiologists, engineers, and polymer chemists, as well as students studying in these fields.

  16. Type VI Aplasia Cutis Congenita: Bart's Syndrome.

    Science.gov (United States)

    Kulalı, Ferit; Bas, Ahmet Yagmur; Kale, Yusuf; Celik, Istemi Han; Demirel, Nihal; Apaydın, Sema

    2015-01-01

    Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions.

  17. Type VI Aplasia Cutis Congenita: Bart's Syndrome

    Science.gov (United States)

    Kulalı, Ferit; Bas, Ahmet Yagmur; Kale, Yusuf; Celik, Istemi Han; Demirel, Nihal; Apaydın, Sema

    2015-01-01

    Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions. PMID:26609453

  18. Nicolau Syndrome after Intramuscular Injection: 3 Cases

    Directory of Open Access Journals (Sweden)

    Seok-Kwun Kim

    2012-05-01

    Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection.

  19. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  20. Delleman Oorthuys syndrome: ′Oculocerebrocutaneous syndrome′

    Directory of Open Access Journals (Sweden)

    Arora Vipul

    2009-01-01

    Full Text Available Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

  1. Definition of Sensitive Skin: An Expert Position Paper from the Special Interest Group on Sensitive Skin of the International Forum for the Study of Itch.

    Science.gov (United States)

    Misery, Laurent; Ständer, Sonja; Szepietowski, Jacek C; Reich, Adam; Wallengren, Joanna; Evers, Andrea W M; Takamori, Kenji; Brenaut, Emilie; Le Gall-Ianotto, Christelle; Fluhr, Joachim; Berardesca, Enzo; Weisshaar, Elke

    2017-01-04

    Sensitive skin is a frequent complaint in the general population, in patients, and among subjects suffering from itch. The International Forum for the Study of Itch (IFSI) decided to initiate a special interest group (SIG) on sensitive skin. Using the Delphi method, sensitive skin was defined as "A syndrome defined by the occurrence of unpleasant sensations (stinging, burning, pain, pruritus, and tingling sensations) in response to stimuli that normally should not provoke such sensations. These unpleasant sensations cannot be explained by lesions attributable to any skin disease. The skin can appear normal or be accompanied by erythema. Sensitive skin can affect all body locations, especially the face". This paper summarizes the background, unresolved aspects of sensitive skin and the process of developing this definition.

  2. Goodpasture's syndrome associated with pulmonary eosinophilic vasculitis.

    Science.gov (United States)

    Komadina, K H; Houk, R W; Vicks, S L; Desrosier, K F; Ridley, D J; Boswell, R N

    1988-08-01

    Lung hemorrhage and antiglomerular basement membrane (anti-GBM) antibody mediated nephritis define Goodpasture's syndrome. We present the case of a 19-year-old Caucasian woman with unique clinical findings of Goodpasture's syndrome. Our patient initially presented with leukocytoclastic vasculitis of the skin followed by the development of nephritis and lung hemorrhage. An open lung biopsy done prior to diagnosing anti-GBM antibody disease demonstrated an intense eosinophilic vasculitis. Skin vasculitis has only been rarely reported, and to our knowledge this is the first reported case of pulmonary eosinophilic vasculitis associated with Goodpasture's syndrome.

  3. Skin Picking Disorder

    Directory of Open Access Journals (Sweden)

    Pinar Cetinay Aydin

    2014-08-01

    Full Text Available Skin picking disorder is not a dermatological disorder and it is a table characterized with picking skin excessively and repetitively, leading to damage in skin tissue. Unlike normal picking behaviour, psychogenic skin picking is repetitive and it can lead to severe damage in the skin and even complications which constitute vital danger. While some patients define frequent but short lasting picking attacks, others define rarer attacks which last a few hours. Skin picking disorder, which is not included in the classification systems up to DSM-5 as a separate diagnosis category, is included as an independent diagnosis in Obsessive Compulsive Disorder and Associated Disorders category in DSM-5. In case reports, open label studies and double blind studies selective serotonin reuptake inhibitors are shown to be effective in the treatment of skin picking disorder. Mostly, cognitive-behaviourial techniques are used and have been proven to be useful in psychotherapy. Habit reversal is one of the behaviourial techniques which are frequently applied, give positive results in which well-being state can be maintained. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(4.000: 401-428

  4. Skin and antioxidants.

    Science.gov (United States)

    Poljsak, Borut; Dahmane, Raja; Godic, Aleksandar

    2013-04-01

    It is estimated that total sun exposure occurs non-intentionally in three quarters of our lifetimes. Our skin is exposed to majority of UV radiation during outdoor activities, e.g. walking, practicing sports, running, hiking, etc. and not when we are intentionally exposed to the sun on the beach. We rarely use sunscreens during those activities, or at least not as much and as regular as we should and are commonly prone to acute and chronic sun damage of the skin. The only protection of our skin is endogenous (synthesis of melanin and enzymatic antioxidants) and exogenous (antioxidants, which we consume from the food, like vitamins A, C, E, etc.). UV-induced photoaging of the skin becomes clinically evident with age, when endogenous antioxidative mechanisms and repair processes are not effective any more and actinic damage to the skin prevails. At this point it would be reasonable to ingest additional antioxidants and/or to apply them on the skin in topical preparations. We review endogenous and exogenous skin protection with antioxidants.

  5. Occupational skin cancers

    Energy Technology Data Exchange (ETDEWEB)

    Gawkrodger, D.J. [Royal Hallamshire Hospital, Sheffield (United Kingdom). Dept. of Dermatology

    2004-10-01

    Skin cancer due to occupation is more common than is generally recognized, although it is difficult to obtain an accurate estimate of its prevalence. Over the past two centuries, occupational skin cancers have particularly been due to industrial exposure of men (it seems more so than women) to chemical carcinogens such as polycyclic hydrocarbons (e.g. from coal tar products) or to arsenic. Industrial processes have improved in most Western countries to limit this type of exposure, but those with outdoor occupations are still exposed to solar ultraviolet irradiation without this being widely recognized as an industrial hazard. Ionizing radiation such as X-rays can also cause skin cancer. Occupational skin cancers often resemble skin tumours found in non-occupational subjects, e.g. basal cell carcinoma, squamous cell carcinoma and malignant melanoma, but some pre-malignant lesions can be more specific and point to an occupational origin, e.g. tar keratoses or arsenical keratoses. An uncommon but well-recognized cause of occupational skin cancer is that which results from scar formation following an industrial burn. In the future it will be necessary to focus on preventative measures, e.g. for outdoor workers, the need to cover up in the sun and use sun protective creams and a campaign for earlier recognition of skin cancers, which are usually curable if treated in their early stages.

  6. SOME DISEASES INVOLVING THE EYE AND THE SKIN

    African Journals Online (AJOL)

    1971-04-10

    Apr 10, 1971 ... vision, then treatment (X-radiation or surgery) becomes imperative. Melanocytic naevi. The melanocyte is .... warty appearance, yellowish brown and fragile, which can be separated from the skin with the ... na~vus flammeus with glaucoma (Sturge-Weber syndrome). T~s group of disorders is characterized ...

  7. Effect of the Cooling System and 1-MCP on the Incidence of Superficial Scald in ‘Granny Smith’ Apples Efecto del Sistema de Enfriamiento y 1-MCP sobre la Incidencia de Escaldado Superficial en Manzanas ‘Granny Smith’

    Directory of Open Access Journals (Sweden)

    Claudia Moggia

    2009-09-01

    Full Text Available A study was carried out to determine the effects of two cooling systems and the application of 1-methylcyclopropene (1-MCP, SmartFreshTM on the incidence of superficial scald in apples (Malus domestica Borkh. cv. Granny Smith. Fruit were collected from a commercial orchard (Colbún, Maule Region, Chile during 2004-2005 season. A completely randomized design was used in a 2 x 2 factorial arrangement, using cooling systems (normal and step-wise cooling and application of 1-MCP (0 and 625 nL L-1 i.a. as the main factors. Fruit from normal cooling were kept at 0 °C throughout the storage period (180 days. Step-wise cooling consisted of storing the fruit at 10 °C for 10 days; 4 °C for the next 20 days and 0 °C for the remaining 150 days. Every month, maturity indices and the chemicals, global antioxidant content (AO, α-farnesene (AF and conjugated trienes (TC, were measured. Incidence of superficial scald was determined after 180 days of storage, plus 10 days at 20 °C . The application of 1-MCP with both cooling systems was capable of maintaining firmness values around 8,2 kg up to the end of the storage period, as well as decreasing the concentration of AF, TC and AO during storage. Incidence of superficial scald on fruit with 1-MCP was 0%, regardless of the type of cooling. Among treatments without 1-MCP, step-wise-cooling was more effective in preventing superficial scald, resulting in 1.3% incidence compared to 75.6% with the normal cooling system. Nevertheless, from the fourth month onwards firmness was lower than that required for export.Se desarrolló un estudio para determinar el efecto de dos sistemas de enfriamiento y la aplicación de 1-metilciclopropeno (1-MCP, SmartFreshTM sobre la incidencia de escaldado superficial en manzanas (Malus domestica Borkh. cv. Granny Smith, colectadas de un huerto comercial (Colbún, Región del Maule, Chile durante la temporada 2004-2005. El ensayo consistió en un diseño completamente al azar con

  8. Anaesthesia and Freeman Sheldon Syndrome

    African Journals Online (AJOL)

    Adele

    Southern African Journal of Anaesthesia & Analgesia - October 2003. 17. Anaesthesia and Freeman Sheldon. Syndrome and a dimple on the chin were noted. The skin over his wrists was smooth and no veins were visible. His wrists, elbows and ankles were stiff. He had cryptorchidism. Chest was clear. Blood results were ...

  9. Blau syndrome: a new kindred.

    Science.gov (United States)

    Alonso, Delilah; Elgart, George W; Schachner, Lawrence A

    2003-08-01

    Blau syndrome is a rare condition typically defined by granulomatous arthritis, skin eruption, and uveitis occurring in the absence of lung or other visceral involvement. Other characteristic physical findings include synovial cysts and camptodactyly. We describe a new kindred demonstrating autosomal dominant inheritance and anticipation.

  10. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... and SOX10 genes can cause Waardenburg syndrome . These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes . Melanocytes make a pigment called melanin, which contributes to skin, hair, and eye color ...

  11. Anticonvulsant hypersensitivity syndrome | Shamad | Sudanese ...

    African Journals Online (AJOL)

    Anticonvulsant drug hypersensitivity syndrome (AHS) is a severe, life-threatening adverse drug reaction. AHS is a cutaneous eruption associated with the aromatic anticonvulsant drugs: carbamazepine, phenytoin, phenobarbital and lamotrigine. The clinical picture of AHS is characterized by a triad of fever, skin rash and ...

  12. Early Skin Tumor Detection from Microscopic Images through Image Processing

    Directory of Open Access Journals (Sweden)

    AYESHA AMIR SIDDIQI

    2017-10-01

    Full Text Available The research is done to provide appropriate detection technique for skin tumor detection. The work is done by using the image processing toolbox of MATLAB. Skin tumors are unwanted skin growth with different causes and varying extent of malignant cells. It is a syndrome in which skin cells mislay the ability to divide and grow normally. Early detection of tumor is the most important factor affecting the endurance of a patient. Studying the pattern of the skin cells is the fundamental problem in medical image analysis. The study of skin tumor has been of great interest to the researchers. DIP (Digital Image Processing allows the use of much more complex algorithms for image processing, and hence, can offer both more sophisticated performance at simple task, and the implementation of methods which would be impossibly by analog means. It allows much wider range of algorithms to be applied to the input data and can avoid problems such as build up of noise and signal distortion during processing. The study shows that few works has been done on cellular scale for the images of skin. This research allows few checks for the early detection of skin tumor using microscopic images after testing and observing various algorithms. After analytical evaluation the result has been observed that the proposed checks are time efficient techniques and appropriate for the tumor detection. The algorithm applied provides promising results in lesser time with accuracy. The GUI (Graphical User Interface that is generated for the algorithm makes the system user friendly

  13. Aging changes in skin

    Science.gov (United States)

    ... It is more noticeable in sun-exposed areas (solar elastosis). Elastosis produces the leathery, weather-beaten appearance ... Good nutrition and adequate fluids are also helpful. Dehydration increases the risk of skin injury. Sometimes minor ...

  14. Designing pliable structural Skins

    DEFF Research Database (Denmark)

    Tamke, Martin; Peters, Brady; Nielsen, Stig Anton

    2013-01-01

    Structural stability can be formed through structured or seemingly unstructured approaches to fold, plead or crumble paper. This paper reports on two projects that showcase how computational design approaches can help to widen the understanding and use of structural skins....

  15. Examine Your Skin

    Medline Plus

    Full Text Available ... Doctor Glossary of Terms Resources Resources Global Resources Cancer Centers Online Resources The Melanoma Book Clinical Trials Download a Skin Self-Exam Card Download a Patient Navigation Card Events, Webinars & Videos Events, Webinars & Videos ...

  16. Examine Your Skin

    Medline Plus

    Full Text Available ... Doctor Glossary of Terms Resources Resources Global Resources Cancer Centers Online Resources The Melanoma Book Clinical Trials Download a Skin Self-Exam Card Download a Patient Navigation Card ...

  17. Allergy Skin Tests

    Science.gov (United States)

    ... medications: Know your options Allergy skin tests About Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  18. Bacterial Skin Infections

    Science.gov (United States)

    ... Summer Camp Tips for Kids With Asthma, Allergies Antioxidants: The Good Health Helpers As Stroke 'Liquefies' Brain ... Cancer Additional Content Medical News Overview of Bacterial Skin Infections By A. Damian Dhar, MD, JD, Private ...

  19. Fungal Skin Infections

    Science.gov (United States)

    ... Summer Camp Tips for Kids With Asthma, Allergies Antioxidants: The Good Health Helpers As Stroke 'Liquefies' Brain ... and itching. Some Antifungal Drugs Applied to the Skin (Topical Drugs) Amorolfine Butoconazole Butenafine Ciclopirox Clotrimazole Econazole ...

  20. Smoking and skin disease

    DEFF Research Database (Denmark)

    Thomsen, S F; Sørensen, L T

    2010-01-01

    suggest that tobacco smoking is a contributing factor in systemic lupus erythematosus, psoriasis, palmoplantar pustulosis, cutaneous squamous cell carcinoma, hidradenitis suppurativa, and genital warts. In contrast, smoking may confer some protective effects and mitigate other skin diseases, notably...

  1. Examine Your Skin

    Medline Plus

    Full Text Available ... us for One-on-One Support Donate Share Facebook Twitter Newsletter Examine Your Skin Watch the video ... develop personalized strategies with patients so they may live longer, better lives. Our Vision: A future where ...

  2. Examine Your Skin

    Medline Plus

    Full Text Available ... Download a Skin Self-Exam Card Download a Patient Navigation Card Events, Webinars & Videos Events, Webinars & Videos Melanoma Patient Video Events Host an Event Past Webinars Upcoming ...

  3. Skin, Hair, and Nails

    Science.gov (United States)

    ... they're cut off from their supply of nourishment and start to form a hard protein called ... yeast Candida . Yeast infections of the skin in older children, teens, and adults are less common. Tinea ...

  4. Skin Cancer Prevention

    Science.gov (United States)

    ... Having a weakened immune system . Being exposed to arsenic . Risk factors for melanoma skin cancer: Having a ... such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks in the following way: [ ...

  5. Skin self-exam

    Science.gov (United States)

    ... Names Skin cancer - self-exam; Melanoma - self-exam; Basal cell cancer - self-exam; Squamous cell - self-exam; ... 2015 Updated by: Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital, Boston, MA. ...

  6. Stages of Skin Cancer

    Science.gov (United States)

    ... with a nozzle is used to spray liquid nitrogen or liquid carbon dioxide to freeze and destroy ... or small particles to rub away skin cells. Radiation therapy Radiation therapy is a cancer treatment that ...

  7. Radiation therapy -- skin care

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000735.htm Radiation therapy - skin care To use the sharing features ... this page, please enable JavaScript. When you have radiation treatment for cancer, you may have some changes ...

  8. Spiritual and religious aspects of skin and skin disorders

    Directory of Open Access Journals (Sweden)

    Shenefelt PD

    2014-08-01

    Full Text Available Philip D Shenefelt,1 Debrah A Shenefelt2 1Dermatology and Cutaneous Surgery, University of South Florida, Tampa, 2Congregation Or Ahavah, Lutz, FL, USA Abstract: Skin and skin disorders have had spiritual aspects since ancient times. Skin, hair, and nails are visible to self and others, and touchable by self and others. The skin is a major sensory organ. Skin also expresses emotions detectable by others through pallor, coldness, "goose bumps", redness, warmth, or sweating. Spiritual and religious significances of skin are revealed through how much of the skin has been and continues to be covered with what types of coverings, scalp and beard hair cutting, shaving and styling, skin, nail, and hair coloring and decorating, tattooing, and intentional scarring of skin. Persons with visible skin disorders have often been stigmatized or even treated as outcasts. Shamans and other spiritual and religious healers have brought about healing of skin disorders through spiritual means. Spiritual and religious interactions with various skin disorders such as psoriasis, leprosy, and vitiligo are discussed. Religious aspects of skin and skin diseases are evaluated for several major religions, with a special focus on Judaism, both conventional and kabbalistic. Keywords: skin, skin disorders, spiritual, religious

  9. Gemcitabine-Induced Extensive Skin Necrosis

    Directory of Open Access Journals (Sweden)

    Sara D'epiro

    2012-01-01

    Full Text Available An 82-year-old woman presented with oedema and extensive necrotic ulcerative lesions on the back side of her lower limbs, emerging after the second cycle of chemotherapy consisting of Gemcitabine for metastatic pancreatic cancer. The absence of any convincing argument in favor of cardiovascular or autoimmune disease led us to attribute the onset of skin necrosis to chemotherapy administration. Although skin ischemia has also been described as a paraneoplastic syndrome, in this case we could observe a temporal and causal relationship to Gemcitabine infusion. Recently, this drug has been associated with important vascular side effects; its vascular toxicity is in fact higher than previously estimated. To our knowledge, careful attention should be reserved to neoplastic patients candidated to Gemcitabine administration, especially if previously affected by arterial vascular disease, venous thromboembolism, or collagenoses.

  10. Skin Cancer - Multiple Languages

    Science.gov (United States)

    ... Expand Section Skin Cancer: MedlinePlus Health Topic - English Cáncer de piel: Tema de salud de MedlinePlus - español (Spanish) National Library of Medicine Ukrainian (українська ) Expand Section Skin Cancer - українська (Ukrainian) Bilingual PDF Health Information Translations Characters ...

  11. Mantoux Tuberculin Skin Test

    Centers for Disease Control (CDC) Podcasts

    2006-11-22

    Learn how to evaluate people for latent TB infection with the Mantoux tuberculin skin test. This podcast includes sections on administering and reading the Mantoux tuberculin skin test, the standard method for detecting latent TB infection since the 1930s.  Created: 11/22/2006 by National Center for HIV, STD and TB Prevention (NCHHSTP).   Date Released: 12/12/2006.

  12. ReciPlySkin

    DEFF Research Database (Denmark)

    Popovic Larsen, Olga; Andersen, Mikkel; Munk-Andersen, Niklas

    2017-01-01

    The report presents process that enbabled the production of the ReciPlySkin structure exhibited at the Circular Economy Exhibition at KADK during the Autumn 2017. The concept, design, detailed design and production are presented in this report.......The report presents process that enbabled the production of the ReciPlySkin structure exhibited at the Circular Economy Exhibition at KADK during the Autumn 2017. The concept, design, detailed design and production are presented in this report....

  13. [Aseptic meningitis during Sweet syndrome].

    Science.gov (United States)

    Balass, S; Duparc, A; Zaïd, S; Bularca, S; Modiano, Ph

    2005-12-01

    Sweet syndrome is a neutrophilic skin disease that can involve extracutaneous signs. Here we describe a case of aseptic meningitis, a rare potential extracutaneous sign of Sweet syndrome. A 42-year-old man was hospitalized for non-pruritic maculoerythematous skin lesions of the legs and back with subsequent myalgia. A histology specimen taken from a skin lesion revealed an acute neutrophilic disease consistent with Sweet syndrome. Marked inflammation and cholestasis were observed. Systemic corticosteroid therapy was given and resulted in good clinical and laboratory response. Two weeks later, in a setting of gradual dosage reduction, the patient was hospitalized for intense headaches associated with meningeal irritation in an inflammatory context. Liver function tests were again abnormal. We concluded on a diagnosis of Sweet syndrome complicated by aseptic meningitis and hepatic sites. Investigation for underlying disease, particularly digestive or hematologic, was negative. A favorable outcome was achieved following administration of higher doses of systemic corticosteroids. Aseptic meningitis constitutes an extracutaneous localization of Sweet syndrome. A multidisciplinary approach and exclusion of infectious origin are required in order to institute systemic corticosteroid therapy.

  14. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  15. Leg ulcers: a new symptom of Blau syndrome?

    Science.gov (United States)

    Dhondt, Veerle; Hofman, Sarah; Dahan, Karin; Beele, Hilde

    2008-01-01

    Blau syndrome is a rare autosomal dominant condition, typically defined by granulomatous polyarthritis, uveitis and skin eruption. Biopsy specimens demonstrate non-caseating granulomas in all lesions. We present a case of Blau syndrome associated with large recalcitrant leg ulcers. Biopsies taken in the leg ulcers of our patient systematically showed granulomas. Although leg ulcers have not previously been described as a part of Blau syndrome, we assume that the ulcerations in this case form part of Blau syndrome.

  16. Blau syndrome presenting with ichthyosis.

    Science.gov (United States)

    Masel, Grant; Halbert, Anne

    2005-02-01

    A 12-year-old girl presented with uveitis, joint disease and ichthyosis resembling ichthyosis vulgaris. A biopsy taken from the affected lower leg demonstrated sarcoidal-type granulomas. Synovial biopsy from the knee also showed granulomas. There was a family history of similar clinical features in the patient's younger sister. There were no other systemic features present to suggest a diagnosis of sarcoidosis or other granulomatous disease such as Crohn's disease or tuberculosis. The familial nature of the condition also made these diagnoses less likely. A clinical diagnosis of Blau syndrome was made. Blau syndrome is an uncommon sarcoidosis-like multisystem autosomal-dominant granulomatous disorder caused by mutations in the CARD15 gene. This gene has also recently been found to be a factor in the development of psoriatic arthritis and Crohn's disease. Although many forms of skin involvement have been described in Blau syndrome, this is the first case described of ichthyosis as the primary skin manifestation.

  17. Melatonin reduces oxidative damage to skin and normalizes blood coagulation in a rat model of thermal injury.

    Science.gov (United States)

    Tunali, Tugba; Sener, Goksel; Yarat, Aysen; Emekli, Nesrin

    2005-01-28

    This study was designed to determine the effect of melatonin treatment on the glutathione (GSH) and lipid peroxidation (LPO) levels in the skin as well as prothrombin time (PT) and fibrin degradation products (FDPs) in the blood of rats with thermal injury. Under ether anaesthesia, the shaved dorsum of the rats was exposed to 90 degrees C bath for 10 s to induce burn injury. Rats were decapitated either 3 or 24 hours after burn injury. Melatonin (10 mg/kg) was administered i.p. immediately after burn injury to same animals. In the 24 hour burn group, melatonin injections were repeated for two more occasions 8 and 16 h after burn injury. In the control group the same protocol was applied except that the dorsum was exposed to a 25 degrees C water bath for 10 s. Severe skin scald injury (30% of total body surface area) caused a significant decrease in PT at post burn 3 and 24 hours. FDPs was not increased at post burn 3 hour but was significantly increased at post burn 24 hour. GSH levels were significantly depressed at post burn 3 hour but were not changed at post burn 24 hour. LPO levels were significantly increased both at post burn 3 and 24 hours. Skin protein levels were significantly reduced at post burn 24 hour as evidenced by electrophoresis. Treatment of rats with melatonin normalized PT levels both at post burn 3 and 24 hours. FDP decreased at post burn 24 hour due to melatonin treatment. GSH levels significantly increased as a result of melatonin treatment both at post burn 3 and 24 hours melatonin treatment. LPO levels were not changed by melatonin at post burn 3 hour; however, the melatonin significantly decreased LPO values at post burn 24 hours. In conclusion, exogenously administered melatonin reduced skin oxidant damage and normalized the activated blood coagulation induced by thermal trauma.

  18. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  19. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  20. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  1. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  2. A pregnancy-associated nonfamilial case of PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, acne) syndrome.

    Science.gov (United States)

    Horiuchi, Isao; Fukatsu, Yuko; Ushijima, Junko; Nakamura, Eishin; Samajima, Koki; Kadowaki, Kanako; Takagi, Kenjiro

    2016-10-01

    Little is known about the influence of pregnancy on pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. We experienced a rare case of pregnancy complicated with PAPA syndrome. The patient had various histories of skin and joint disorders and experienced subarachnoid hemorrhage during pregnancy; however, her skin lesion was unaffected.

  3. Profile of vemurafenib-induced severe skin toxicities.

    Science.gov (United States)

    Peuvrel, L; Quéreux, G; Saint-Jean, M; Brocard, A; Nguyen, J M; Khammari, A; Knol, A C; Varey, E; Dréno, B

    2016-02-01

    Vemurafenib, a BRAF inhibitor, is commonly associated with skin toxicity. The impact of severe forms is unknown. To determine the rate of permanent vemurafenib discontinuation due to grade 3-4 skin toxicity, features of these toxicities, their recurrence rate after a switch to dabrafenib and their impact on overall survival. Retrospective cohort study of 131 patients treated with vemurafenib for melanoma between November 2010 and December 2014. Data on skin toxicities, the need for vemurafenib adjustment and the impact of switching to dabrafenib were collected. Regarding survival analysis, a conditional landmark analysis was performed to correct lead-time bias. Among the 131 vemurafenib-treated patients, 26% developed grade 3-4 skin toxicity. Forty-four percent of them permanently discontinued their treatment, mainly due to rash and classic skin adverse reactions (Steven-Johnson syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms). Conversely, photosensitivity and carcinomas rarely required treatment adjustment. Grade 3-4 rashes were associated with clinical or biological abnormalities in 94% of patients. Among the 10 patients who subsequently switched to dabrafenib, skin toxicity recurred only in one patient. Overall survival was significantly prolonged in case of severe skin toxicity emerging within the first 4 (P = 0.014) and 8 weeks (P = 0.038) on vemurafenib, with only a trend at 12 weeks (P = 0.052). Median overall survival was also prolonged in case of severe rash. In this study, vemurafenib was continued in 56% of patients with grade 3-4 skin toxicity, which was associated with prolonged overall survival when emerging within the first 4 and 8 weeks of treatment. While developing severe skin adverse reactions permanently contraindicates vemurafenib use, other rashes should lead to retreatment attempts with dose reduction. In case of recurrence, dabrafenib seems to be an interesting option. For other skin toxicities, including photosensitivity and

  4. Smoking and skin disease

    DEFF Research Database (Denmark)

    Thomsen, S F; Sørensen, L T

    2010-01-01

    Tobacco smoking is a serious and preventable health hazard that can cause or exacerbate a number of diseases and shorten life expectancy, but the role of smoking as an etiologic factor in the development of skin disease is largely unknown. Although epidemiological evidence is sparse, findings...... suggest that tobacco smoking is a contributing factor in systemic lupus erythematosus, psoriasis, palmoplantar pustulosis, cutaneous squamous cell carcinoma, hidradenitis suppurativa, and genital warts. In contrast, smoking may confer some protective effects and mitigate other skin diseases, notably...... pemphigus vulgaris, pyoderma gangrenosum, aphthous ulcers, and Behçet's disease. Various degenerative dermatologic conditions are also impacted by smoking, such as skin wrinkling and dysregulated wound healing, which can result in post-surgical complications and delayed or even arrested healing of chronic...

  5. Skin in pregnancy

    Directory of Open Access Journals (Sweden)

    Raj Sujata

    1992-01-01

    Full Text Available Screening for cutaneous disorders was undertaken in 1,175 pregnant women attending ante-natal clinic. Skin disease or STD being encountered in 114 (9.7%. Pruritus was present in 7.1 percent and was mostly due to candidiadis. The physiological skin changes were frequently observed. Candidiasis was by far the commonest infection with a 2.9 percent incidence. Syphilis was the commonest STD followed by Donovanosis and condyloma acuminata. Specific pregnancy dermatoses were seen in 1.5 percent and included prurigo gestationis, pruritic urticarial papules and plaques (PUPPP and pruritus gravidarum.

  6. Nicotinamide and the skin.

    Science.gov (United States)

    Chen, Andrew C; Damian, Diona L

    2014-08-01

    Nicotinamide, an amide form of vitamin B3, boosts cellular energy and regulates poly-ADP-ribose-polymerase 1, an enzyme with important roles in DNA repair and the expression of inflammatory cytokines. Nicotinamide shows promise for the treatment of a wide range of dermatological conditions, including autoimmune blistering disorders, acne, rosacea, ageing skin and atopic dermatitis. In particular, recent studies have also shown it to be a potential agent for reducing actinic keratoses and preventing skin cancers. © 2014 The Australasian College of Dermatologists.

  7. [Analysis of the clinical application of epidermal growth factor ("Heberprot-P") and bioplastic material ("Collost") in treatment of skin and soft tissues defects in patients with diabetic foot syndrome].

    Science.gov (United States)

    Dibirov, M D; Gadzhimuradov, R U; Koreyba, K A

    2016-01-01

    Currently, there is increasing the number of diabetic foot patients with tissues defects. The local treatment of this pathology against the backdrop of diabetic angiopathy and polyneuropathy is a topical issue. Treatment of wound defects in patients with neuroischemic form of diabetic foot syndrome; study of the effectiveness of collagen implants and gene-therapy technologies in wound closure. The comparative study was conducted for analyzing clinical effects of "Heberprot-P" and bioplastic material "Collost" on wound healing process in patients with verified diagnosis "diabetic foot syndrome" on the base of City Clinical Hospital №81(Moscow) and "Diabetic Foot" center (Kazan). The article shows the availability, methodology, results of combination treatment of wound defects of lower limbs in DFS patients with gen-therapy methods and bioplastic materials based on native type I collagen. The use of bioplastic materials based on native type I collagen for treatment of tissue defects in patients with diabetic foot is preferably than the use of epidermal growth factor.

  8. A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome

    National Research Council Canada - National Science Library

    Yasmin Alfayez; Sahar Alsharif; Adel Santli

    2017-01-01

    Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities...

  9. Neurological and spinal manifestations of the Ehlers-Danlos syndromes

    NARCIS (Netherlands)

    Henderson, F.C.; Austin, C.; Benzel, E.; Bolognese, P.; Ellenbogen, R.; Francomano, C.A.; Ireton, C.; Klinge, P.; Koby, M.; Long, D.; Patel, S.; Singman, E.L.; Voermans, N.C.

    2017-01-01

    The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the

  10. Genetics Home Reference: BAP1 tumor predisposition syndrome

    Science.gov (United States)

    ... have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome , including cutaneous melanoma and basal cell carcinoma . A type of eye ...

  11. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  12. Measuring skin conductance over clothes.

    Science.gov (United States)

    Hong, Ki Hwan; Lee, Seung Min; Lim, Yong Gyu; Park, Kwang Suk

    2012-11-01

    We propose a new method that measures skin conductance over clothes to nonintrusively monitor the changes in physiological conditions affecting skin conductance during daily activities. We selected the thigh-to-thigh current path and used an indirectly coupled 5-kHz AC current for the measurement. While varying the skin conductance by the Valsalva maneuver method, the results were compared with the traditional galvanic skin response (GSR) measured directly from the fingers. Skin conductance measured using a 5-kHz current displayed a highly negative correlation with the traditional GSR and the current measured over clothes reflected the rate of change of the conductance of the skin beneath.

  13. Auriculotemporal nerve syndrome.

    Science.gov (United States)

    Sánchez-Morillas, L; Reaño Martos, M; Rodríguez Mosquera, M; Iglesias Cadarso, A; Pérez Pimiento, A; Domínguez Lázaro, A R

    2003-01-01

    Auriculotemporal nerve syndrome is characterized by erythema, perspiration, heat and pain localized in the area supplied by the auriculotemporal nerve in response to gustatory stimuli after the ingestion of different types of food. This syndrome may be confused with food allergy. A 21-year-old woman complained of erythema, sweat and heat in the right cheek after intake of several foods such as chocolate, fruits, and nuts for the previous 8 months. She had fractured her jaw two years previously. Skin prick tests were performed with a standard battery of common inhalant allergens and with an extensive panel of food allergens. Prick-by-prick tests were also performed with fruits, nuts, and cacao. Total and specific IgE were measured. Open oral food challenge test was performed. Skin prick tests were positive for grass and olive pollen. Prick-by-prick tests and specific IgE antibodies to the different foods were all negative. Open oral challenge test with apple reproduced the symptoms. This benign syndrome is often misdiagnosed as a food allergy.

  14. Preventing Skin Cancer

    Centers for Disease Control (CDC) Podcasts

    2016-05-18

    A man and a woman talk about how they’ve learned to protect their skin from the sun over the years. .  Created: 5/18/2016 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 5/18/2016.

  15. Monitoring pigmented skin lesions

    Science.gov (United States)

    Wallace, Vincent P.; Bamber, Jeffery C.; Ott, Robert J.; Crawford, Diane C.; Mortimer, Peter S.

    2002-06-01

    The rising incidence of skin cancer has led to an increase in the number of patients with skin lesions that require diagnosis, mostly using subjective visual examination. Successful treatment depends on early diagnosis. Unfortunately diagnostic accuracy, even by experts, can be as low as 56%; therefore, an accurate, objective diagnostic aid is greatly needed. Reflectance characteristics of pigmented skin lesions were documented to evaluate their diagnostic potential. Reflectance spectra in the wavelength range 320-1100nm were obtained from 260 lesions. Differences between spectra from benign and malignant lesions were utilized by extracting features with the best discriminating power. Discrimination was evaluated using two techniques: multivariate statistical analysis and artificial neural networks, using histology as the standard. Each technique was tested in a blind study and assessed in terms of its ability to diagnose new cases and compared to the clinical diagnosis. The artificial neural network achieved the best diagnostic performance for discriminating between malignant melanoma and benign nevi, having a sensitivity of 100% and a specificity of 65%. Utilization of visible and infrared techniques for monitoring skin lesions has lead to improvements in diagnostic accuracy. We conclude that these techniques are worthy of further development and evaluation in clinical practice as a screening tool.

  16. Stress and the skin.

    Science.gov (United States)

    Reich, A; Wójcik-Maciejewicz, A; Slominski, A T

    2010-04-01

    Emotional stress can affect, reveal or even exacerbate a number of skin disorders including psoriasis, atopic dermatitis, pruritus, alopecia areata, lichen planus, seborrheic dermatitis, rosacea or urticaria, although the direct pathophysiologic link between stress factors and cutaneous disease manifestation remains unclear. However, there is an increasing evidence that stress influences disease processes and contributes to the inflammation through modulating hypothalamic-pituitary-adrenal axis and releasing neuropeptides, neurotrophins, lymphokines and other chemical mediators from nerve endings and dermal cells. The central role in cellular skin reactivity to various stressors might be attributed to dermal mast cells, as they show close connections with sensory nerve endings and may release a huge number of proinflammatory mediators. However, many other cells also actively take part in skin response to stress. Although our knowledge is still not complete, one of the most distinct aspect is that the skin, endocrine, nervous and immune systems cannot longer be treated autonomously, but have to be considered as a large multidirectional complex of which interacting nature is still poorly understood.

  17. Examine Your Skin

    Medline Plus

    Full Text Available ... Melanoma Book Clinical Trials Download a Skin Self-Exam Card Download a Patient Navigation Card Events, Webinars & Videos Events, Webinars & Videos Melanoma Patient Video Events Host an Event Past Webinars Upcoming Webinars Volunteer Blog Blog Melanoma? The ...

  18. Parasites and the skin

    African Journals Online (AJOL)

    2009-06-11

    Jun 11, 2009 ... basin, the Caribbean and Latin America. It is transmitted by the bite of the phlebotomus sandfly. Dogs and rodents are the intermediate hosts. There are three forms of leishmaniasis: • cutaneous leishmaniasis, which is restricted to the skin and is seen more often in the old world, as seen in our patient.

  19. Skin Conditions during Pregnancy

    Science.gov (United States)

    ... the navel to pubic hair that darkens during pregnancy. Melasma: A common skin problem that causes brown to gray-brown patches on the face. Also known as “chloasma” or “mask of pregnancy.” Rectum: The last part of the digestive tract. ...

  20. Squamous cell skin cancer

    Science.gov (United States)

    ... squamous cell cancer include: Having light-colored skin, blue or green eyes, or blond or red hair Long-term, daily sun exposure (such as in people who work outside) Many severe sunburns early in life Older age Having had many x-rays Chemical exposure A weakened immune system, especially in ...

  1. Dress syndrome with sepsis, acute respiratory distress syndrome and pneumomediastinum

    Directory of Open Access Journals (Sweden)

    Prabhas Prasun Giri

    2011-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome reflects a serious hypersensitivity reaction to drugs, and is characterized by skin rash, fever, lymph node enlargement, and internal organ involvement. So far, numerous drugs such as sulfonamides, phenobarbital, sulfasalazine, carbamazepine, and phenytoin have been reported to cause DRESS syndrome. We report a case of a 10-year-old girl who developed clinical manifestations of fever, rash, lymphadenopathy, hypereosinophilia, and visceral involvement (hepatitis and pneumonitis after taking phenobarbital for seizures, with subsequent development of sepsis, acute respiratory distress syndrome (ARDS and spontaneous air leak syndrome (pnemothorax and pneumomediastinum. She was put on steroids and various antibiotics and was ventilated, but ultimately succumbed to sepsis and pulmonary complications.

  2. Metabolic disorders mimicking Reye's syndrome.

    Science.gov (United States)

    Chang, P F; Huang, S F; Hwu, W L; Hou, J W; Ni, Y H; Chang, M H

    2000-04-01

    Several metabolic disorders such as encephalopathy and hepatic dysfunction have been described as Reye's-like syndrome because they present with similar clinical manifestations that mimic Reye's syndrome. We performed a retrospective study to explore the underlying metabolic etiologies of Reye's-like syndrome in patients treated at National Taiwan University Hospital. From January 1991 to June 1998, 19 children with a syndrome fitting the Reye's-like syndrome description were identified for study. Urine organic acid analysis, plasma amino acid analysis, liver pathology, and skin fibroblast enzyme assays were studied during the acute stage of illness. The etiologies of patients' syndromes included urea cycle disorders (n = 7), glycogen storage disease type Ia (4), primary carnitine deficiency (2), hereditary fructose intolerance (1), methylmalonic acidemia (2), and 3-hydroxy-3-methylglutaric acidemia (1). Fatty acid oxidation defects were suspected in the remaining two cases. A significant number of patients who present with Reye's-like syndrome have an underlying inherited metabolic disorder. In patients with Reye's-like syndrome, an accurate diagnosis is essential to ensure normal growth and development and to prevent recurrence of the condition.

  3. Proteus Syndrome

    Science.gov (United States)

    ... affect any part of the body but commonly affects the bones and skin. Overgrowth of a bone can cause orthopedic problems, and overgrowth of the skin can cause cosmetic and other concerns. Less commonly, individuals with Proteus ...

  4. Skin color independent assessment of aging using skin autofluorescence

    NARCIS (Netherlands)

    Koetsier, Marten; Nur, Erfan; Han Chunmao, [No Value; Lutgers, Helen L.; Links, Thera P.; Smit, Andries J.; Rakhorst, Gerhard; Graaff, Reindert

    2010-01-01

    Skin autofluorescence (AF) for the non-invasive assessment of the amount of accumulated tissue Advanced Glycation Endproducts (AGEs) increases with aging. In subjects with darker skin colors, measurements typically result in lower AF values than in subjects with fair skin colors, e. g. due to

  5. Tips for Relieving Dry Skin

    Science.gov (United States)

    ... skin include lactic acid, urea, hyaluronic acid, dimethicone, glycerin, lanolin, mineral oil, and petrolatum. Tip: Carry a ... using: Deodorant soaps Skin care products that contain alcohol, fragrance, retinoids, or alpha-hydroxy acid (AHA) Avoiding ...

  6. Candida infection of the skin

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000880.htm Candida infection of the skin To use the sharing features on this page, please enable JavaScript. Candida infection of the skin is a yeast infection ...

  7. 6 Common Cancers - Skin Cancer

    Science.gov (United States)

    ... involves the cells that produce the skin pigment melanin, which is responsible for skin and hair color. ... acted like a carrier pigeon to deliver a gene encoding a specific protein, called a T cell ...

  8. Skin aging and oxidative stress

    National Research Council Canada - National Science Library

    Ahsanuddin, Sayeeda; Lam, Minh; D. Baron, Elma

    2016-01-01

    .... Here, we review the critical role that oxidative stress plays in skin aging, including its effects on signaling pathways involved in skin matrix formation and degradation, proteasome activity, as well as DNA structure...

  9. Oculocerebrocutaneous syndrome : report of three additional cases and aetiological considerations

    NARCIS (Netherlands)

    Moog, U; deDieSmulders, C; Systermans, JMJ; Cobben, JM

    1997-01-01

    The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and microphthalmia/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations. Most of the patients suffer from psychomotor retardation and seizures. To date, 23 patients

  10. Skin Detection of Animation Characters

    OpenAIRE

    Kazi Tanvir Ahmed Siddiqui; Abu Wasif

    2015-01-01

    The increasing popularity of animes makes it vulnerable to unwanted usages like copyright violations and pornography. That’s why, we need to develop a method to detect and recognize animation characters. Skin detection is one of the most important steps in this way. Though there are some methods to detect human skin color, but those methods do not work properly for anime characters. Anime skin varies greatly from human skin in color, texture, tone and in different kinds of lightin...

  11. The diagnostic yield of skin biopsy in patients with leukemia and suspected infection.

    Science.gov (United States)

    Farmakiotis, Dimitrios; Ciurea, Ana Mercedes; Cahuayme-Zuniga, Lizbeth; Kontoyiannis, Dimitrios P

    2013-10-01

    To determine the diagnostic yield of skin biopsy in patients with leukemia, new skin lesions, and suspected infection. We reviewed the medical records of all patients with leukemia who underwent skin biopsy for new lesions and clinical suspicion of infection over 4 years. Biopsy was considered to have changed the diagnosis, if the results differed from the prior leading clinical impression. Seventy-six (39%) of 195 patients had infections identified via skin biopsy. Among the remaining patients, the most common diagnoses were leukemia cutis, drug reactions and Sweet's syndrome. Ulcerated or necrotic lesions and bacteremia or fungemia were the only independent predictors of infection. 55% of patients with severe neutropenia had biopsy-proven infectious causes of their skin lesions. One third of all afebrile patients had skin manifestations owing to infection. Skin biopsy results differed from the initial clinical impression in 34% of all patients. In 45% of infected patients, pathogens were identified by skin biopsy alone. Noninfectious causes accounted for a large proportion of new skin lesions in leukemia patients with suspected infections. Absence of neutropenia or fever did not rule out infection. Ulcerated or necrotic lesions and bacteremia or fungemia were independent predictors of infection. In the evaluation of patients with leukemia and new skin lesions, skin biopsy remains an important procedure to rule out infection, and is particularly useful for pathogen identification. Copyright © 2013 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  12. Skin simulators for dermatological procedures

    OpenAIRE

    Wang, Xiaojie; Albahrani, Yasser; Pan, Michael; Levitt, Jacob

    2015-01-01

    Background: A variety of skin simulators are available on which to practice procedures; however, choice of a suboptimal substitute compromises realism and productive practice. Objective: Skin simulators for basic dermatological procedures are reviewed. Methods: The authors’ anecdotal experience with various skin simulators for different procedures is shared. Results: The following simulators are suggested:  an unripe banana ...

  13. Skin disorders affecting the feet

    African Journals Online (AJOL)

    Skin disorders on the feet can affect the glabrous skin on the dorsal aspects, or the thick skin on the plantar aspects, thereof, or both. Some can affect one foot, and others both of them. These diseases can be inflammatory, genetically inherited, infectious and neoplastic in origin. It is important to identify them and to.

  14. Maintaining Healthy Skin -- Part 1

    Science.gov (United States)

    ... problems. Tips for maintaining good skin care: Avoid soaps labeled "antibacterial" or "antimicrobial." These tend to reduce the skin's acidity, which acts as a protection from infection. Keep the skin clean and dry. Wash with soap and water daily, then rinse and dry thoroughly. ...

  15. Skin Pedagogies and Abject Bodies

    Science.gov (United States)

    Kenway, Jane; Bullen, Elizabeth

    2011-01-01

    How does the beauty industry "narrate the skin"? What does it teach women from different cultural groups about the female body? How does skin function as a site where female subjection and abjection are produced and reproduced? In this paper we examine the skin industry pointing to its extreme commodification of the female body and to the…

  16. Skin colorimetric parameters involved in skin age perception.

    Science.gov (United States)

    Puccetti, Germain; Nguyen, Tung; Stroever, Cristina

    2011-05-01

    Age perception is based on a number of facial attributes such as wrinkles, skin gravity effects, feature lines, and skin optical appearance. The colorimetric and optical diffusion properties of skin have been compared with the consumer interpretation of 'skin age' of cheek area pictures without wrinkles or feature lines. Controlled lighting images of skin were taken with the Visia CR. Skin sections from the cheek area were selected without eye region wrinkles or naso-labial lines for consumer interpretation. These same skin sections were analyzed for optical roughness and colorimetric parameters in the LCH color space, by distinguishing several roughness parameters according to their physical scale. Three main optical parameters of skin were found to influence the consumer's interpretation of skin 'visual age': the chroma (color saturation), lightness, and the local light-diffusing ability of skin. For the chroma and lightness, mainly large-scale inhomogeneities in the 0.8-2 cm(-1) range are taken into account by the consumer. Surprisingly, variations in the skin hue show a total absence of correlation with the consumer grading. © 2011 John Wiley & Sons A/S.

  17. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Farhana Tahseen Taj

    2014-01-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and joint laxity. It is a hereditary disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known. First described by Hippocrates in 4 th century B.C., the various clinical types with variable penetrance have been described lately. The number of cases EDS reported in the literature is very meagre. With the available information only about six publications of classic EDS in siblings had been reported in Indian literature.

  18. POLAND’S SYNDROME

    OpenAIRE

    Olga E. Agranovich; Igor A. Komolkin; Alyona Ju. Dimitrieva

    2017-01-01

    Poland’s syndrome is a rare congenital condition classically characterized by partial or complete absence of chest muscles on one side of the body and usually webbing of the fingers of the hand on the same side. There may also be rib (aplasia or hypoplasia) and chest bone abnormalities, which may be noticeable due to less fat under the skin. Breast and nipple abnormalities may also occur, and underarm hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest...

  19. Griscelli syndrome type-3

    Directory of Open Access Journals (Sweden)

    Bela J Shah

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.

  20. Sulphasalazine Induced Hypersensitivity Syndrome

    Directory of Open Access Journals (Sweden)

    Hatice Şanlı

    2013-05-01

    Full Text Available Drug-induced hypersensitivity syndrome (DIHS is one of the most dangerous drug reactions. Mortality and morbidity is increased by consequent systemic organ involvement. Maculopapular eruptions are the most common lesions accompanying DIHS, however, the morphology of skin lesions may vary. The most common cause of DIHS is the use of aromatic anticonvulsant drugs. However, one must not forget that other drugs may also cause DIHS. Early recognition of the condition is the most important step in the treatment. Herein, we present a case of DIHS triggered by sulphasalazine and associated with pustular eruption and maculopapular eruption.

  1. Is skin penetration a determining factor in skin sensitization ...

    Science.gov (United States)

    Summary:Background. It is widely accepted that substances that cannot penetrate through the skin will not be sensitisers. Thresholds based on relevant physicochemical parameters such as a LogKow > 1 and a MW 1 is a true requirement for sensitisation.Methods. A large dataset of substances that had been evaluated for their skin sensitisation potential, together with measured LogKow values was compiled from the REACH database. The incidence of skin sensitisers relative to non-skin sensitisers below and above the LogKow = 1 threshold was evaluated. Results. 1482 substances with associated skin sensitisation outcomes and measured LogKow values were identified. 305 substances had a measured LogKow penetrate the stratum corneum is a key determinant of skin sensitisation potential and potency. Using the REACH data extracted to test out the validity of common assumptions in the skin sensitization AOP. Builds on trying to develop a proof of concept IATA

  2. Skin barrier in rosacea*

    Science.gov (United States)

    Addor, Flavia Alvim Sant'Anna

    2016-01-01

    Recent studies about the cutaneous barrier demonstrated consistent evidence that the stratum corneum is a metabolically active structure and also has adaptive functions, may play a regulatory role in the inflammatory response with activation of keratinocytes, angiogenesis and fibroplasia, whose intensity depends primarily on the intensity the stimulus. There are few studies investigating the abnormalities of the skin barrier in rosacea, but the existing data already show that there are changes resulting from inflammation, which can generate a vicious circle caused a prolongation of flare-ups and worsening of symptoms. This article aims to gather the most relevant literature data about the characteristics and effects of the state of the skin barrier in rosacea. PMID:26982780

  3. Skin contamination dosimeter

    Science.gov (United States)

    Hamby, David M [Corvallis, OR; Farsoni, Abdollah T [Corvallis, OR; Cazalas, Edward [Corvallis, OR

    2011-06-21

    A technique and device provides absolute skin dosimetry in real time at multiple tissue depths simultaneously. The device uses a phoswich detector which has multiple scintillators embedded at different depths within a non-scintillating material. A digital pulse processor connected to the phoswich detector measures a differential distribution (dN/dH) of count rate N as function of pulse height H for signals from each of the multiple scintillators. A digital processor computes in real time from the differential count-rate distribution for each of multiple scintillators an estimate of an ionizing radiation dose delivered to each of multiple depths of skin tissue corresponding to the multiple scintillators embedded at multiple corresponding depths within the non-scintillating material.

  4. CASE WITH SKIN ERUPTIONS

    Directory of Open Access Journals (Sweden)

    Shanthi Kumari

    2014-07-01

    Full Text Available A 50 years old male patient presented with fever, cough and dyspnea of 45 days duration and skin lesions of 20 days duration which he related to the local application of dettol after shaving. Examination revealed anemia, left basal pneumonitis and non pruritic, non tender, reddish purple nodular lesions over the face, behind the ear, chest and lower back (picture. There was no involvement of oral cavity or mucocutaneous junction. Peripheral nerves not thickened and there were no hypo-pigmented patches in the skin or organomegaly. Investigation revealed microcytic anemia, no abnormal cells in the peripheral smear. X ray showed left basal pneumonitis. Patient was treated with antibiotics and blood transfusion.

  5. Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

    Science.gov (United States)

    2016-09-26

    Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue; Pyoderma Gangrenosum; Erosive Pustular Dermatosis of the Scalp; Sweet's Syndrome; Behcet's Disease; Bowel-associated Dermatosis-arthritis Syndrome; Pustular Psoriasis; Acute Generalized Exanthematous Pustulosis; Keratoderma Blenorrhagicum; Sneddon-Wilkinson Disease; IgA Pemphigus; Amicrobial Pustulosis of the Folds; Infantile Acropustulosis; Transient Neonatal Pustulosis; Neutrophilic Eccrine Hidradenitis; Rheumatoid Neutrophilic Dermatitis; Neutrophilic Urticaria; Still's Disease; Erythema Marginatum; Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes; Dermatitis Herpetiformis; Linear IgA Bullous Dermatosis; Bullous Systemic Lupus Erythematosus; Inflammatory Epidermolysis Bullosa Aquisita; Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis); Small Vessel Vasculitis Including Urticarial Vasculitis; Erythema Elevatum Diutinum; Medium Vessel Vasculitis

  6. Neonatal compartment syndrome.

    Science.gov (United States)

    Martin, B; Treharne, L

    2016-09-01

    A term neonate was born with a grossly swollen and discoloured left hand and forearm. He was transferred from the local hospital to the plastic surgical unit, where a diagnosis of compartment syndrome was made and he underwent emergency forearm fasciotomies at six hours of age. Following serial debridements of necrotic tissue, he underwent split-thickness skin grafting of the resultant defects of his forearm, hand and digits. At the clinic follow-up appointment two months after the procedure, he was found to have developed severe flexion contractures despite regular outpatient hand therapy and splintage. He has had further reconstruction with contracture release, use of artificial dermal matrix, and K-wire fixation of the thumb and wrist. Despite this, the long term outcome is likely to be an arm with poor function. The key learning point from this case is that despite prompt transfer, diagnosis and appropriate surgical management, the outcome for neonatal compartment syndrome may still be poor.

  7. Vibroacoustic Skin Diagnostics Modeling

    Directory of Open Access Journals (Sweden)

    Svetlana М. Yatsun

    2013-01-01

    Full Text Available The article deals with the mathematical modeling of biological diagnosis of complex heterogeneous structure (skin, using non-destructive control method. The mathematical model, describing interaction of the material with electrodynamic vibration generator and sensor system, controlling the propagation of small disturbances was developed. The influence of material model parameters on the spectrum in the course of the propagation of the surface disturbance

  8. Skin lesions in sadomasochism.

    Science.gov (United States)

    Sønderbo, K; Nyfors, A

    1986-01-01

    This paper presents the case of a 35-year-old man who consulted the department of venereology because of healing problems with some wounds caused by burning his skin perianally with cigarettes as part of a sexual satisfaction ritual. Knowledge of such lesions may be useful to physicians and social workers. Sadomasochism and 'offers' in the intimate-massage clinics in Copenhagen are surveyed.

  9. Yellow nail syndrome: a rarity in Indians?

    Science.gov (United States)

    Nair, V K; Sukumaran, P

    1996-01-01

    Reports of yellow nail syndrome have been few and far between. The classical triad of the syndrome has not been reported in Indian literature. We report a case of yellow nail syndrome in a forty-year-old male, who had yellowish-brown nails from birth. He developed lymphoedema of the legs at the age of twenty years and presented with pleural effusion at the age of forty years. Although a case of yellow nail syndrome has been reported from India, the classical triad of the syndrome is yet to be documented from our country. The condition may be missed because of the long time difference in presentation of different components of the syndrome and also because of the dark skin colour of Indians.

  10. Schnitzler syndrome: clinical features and histopathology

    Directory of Open Access Journals (Sweden)

    Dingli D

    2015-06-01

    Full Text Available David Dingli,1,2 Michael J Camilleri3 1Division of Hematology, Department of Internal Medicine, 2Department of Molecular Medicine, 3Department of Dermatology, Mayo Clinic, Rochester, MN, USA Abstract: Schnitzler syndrome is a rare and underrecognized syndrome characterized by chronic urticaria, a monoclonal protein, and a variety of other symptoms, including fever, bone pain, organomegaly, and evidence of an acute phase response. Biopsy of an involved area of the skin shows a neutrophilic infiltrate without evidence of vasculitis or hemorrhage. Although the etiology of the syndrome is unknown, current evidence suggests this is an autoinflammatory syndrome. Recognition of this syndrome is critical since it is highly responsive to anakinra. Keywords: neutrophilic urticarial dermatosis, autoinflammatory syndrome, monoclonal gammopathy, neutrophilic dermatosis, anakinra 

  11. Dress Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Kremić Zorana

    2016-06-01

    Full Text Available The drug reaction with eosinophilia and systemic symptoms (DRESS syndrome is an adverse drug-induced reaction that occurs most commonly after exposure to drugs, most frequently anticonvulsants, sulfa derivates, antidepressants, nonsteroidal anti-inflammatory drugs, and antimicrobials. We present a 61-year-old male, with a generalized maculopapular exanthema on the trunk, face, extremities, palms, soles, palate, and fever (38°C. His medical history was notable for generalized epilepsy, treated with carbamazepine during 1 month. The diagnosis of DRESS syndrome was confirmed by specific RegiSCAR criteria. In our case, skin eruptions were successfully treated with oral methylprednisolone, cephalexin, and topical corticosteroid ointment.

  12. Overlap syndrome: a diagnostic dilemma.

    Science.gov (United States)

    Shah, Kaushal Mahendra; Kanitkar, Sampada

    2012-11-27

    We report an interesting case of a young patient who came with a concern for missing teeth and lack of hair on scalp and body. Examination revealed complete absence of teeth, absence of eyebrows, eyelashes and hair over scalp. He was short-statured, had hyperextensible joints and hyperelastic skin, protuberant lips and many other anomalies such that the overall pattern of defects was not recognisable. A wide array of investigations involving the dental and medical faculties were done; however, the final diagnosis could not be reached, since it appeared to involve features of more than one syndrome, thus the name 'overlap syndrome'.

  13. [Skin and menopause].

    Science.gov (United States)

    Bensaleh, H; Belgnaoui, F Z; Douira, L; Berbiche, L; Senouci, K; Hassam, B

    2006-12-01

    Important changes related to declining level of several hormones occur during menopause: vasomotor instability, bone loss, anxiety, sexual dysfunction, skin aging... Our objective was a review of the literature concerning the histological and clinical changes seen in post menopausal skin, and also an analysis of the effect of hormonal replacement therapy in slowing down the aging process. Decline in progesterone increases the impact of androgen on the sebaceous glands and hair. Decreased estrogen slows down mitotic activity in the epidermal basal layer, reduces the synthesis of collagen and contributes to thickening of the dermo-epidermal junction. This hypoestrogenemia may be spontaneously attenuated by local synthesis of oestradiol in peripheral target tissues according to the intracrine process. This new hormonal pattern is associated with skin atrophy, hyperseborrhea, increased pilosity on the cheeks and upper lip, loss of scalp hair, increase in degeneration of elastic tissue, atrophy and dryness of the vaginal mucosa. Estrogen treatment in post menopausal women has been shown to increase collagen content, dermal thickness and elasticity. Biophysical properties are also significantly improved for the parameters reflecting hydration and sebum secretion. However, numerous side effects such as increased incidence of cancer and cardiovascular morbidity limit the use of this treatment. So non hormonal alternatives are proposed. Laser and lifting remain the most important options.

  14. Lead and the skin

    Energy Technology Data Exchange (ETDEWEB)

    Allen, B.R.; Moore, M.R.; Hunter, J.A.A.

    1975-01-01

    The increasing use of lead will continue to give rise to problems of toxicity. Protective measures have resulted in florid lead poisoning becoming rare. Attention has recently turned to the possibility of prolonged exposure to low doses of lead causing morbidity in the absence of the classical clinical features of poisoning. Lead is absorbed mostly through the lungs and gastrointestinal tract. Some is also absorbed through the skin but with inorganic compounds the amount is small. Shortly after the most widely used compound, tetraethyl lead, was first manufactured, cases of toxicity began to occur. Manufacture was forbidden until plant design produced greater safety. Significant absorption can occur through the skin. The hazard to those handling leaded gasoline in a normal manner is probably small, mainly because 95 percent of a dose applied to the open skin surface evaporates. Hair has been used as a biopsy material to assess lead exposure. The biological effects of lead poisoning are discussed, including the synergistic effects of lead and agents provoking porphyria.

  15. SKIN RADIATION IN PANORAMIC

    Directory of Open Access Journals (Sweden)

    Herry Irawan

    2015-06-01

    Full Text Available Dental panoramic radiograph in Indonesia has been widely used. Modern diagnostic imaging equipment with minimum radiation is still very limited. One of the conditions in nuclear safety law, UU 10/1997, is an optimization of all radiation sources with DRL through skin dose measurements. In Indonesia, the national DRL has not been established yet, and there were no reports on the study of panoramic skin dose in Indonesia. The aim of this preliminary study was to obtain a panoramic skin dose radiation as reference to establish DRL in Indonesia. Panoramic radiographs of sixteen female and fifteen male patients, aged 4 – 48 years, were taken using the standard conventional method, with TLD chips attached in location groups. The chips were then read with the detector and integrator of BATAN, in high and low temperature condition at the same time. It was revealed that behind the right and left ear were the regions with the highest radiation dose received, followed by the back of the neck, left jaw, right jaw, and chin. The result of this study has shown the importance of DRL in Indonesia since the use of modern diagnostic imaging equipement that limits radiation dose to the minimum level is still very limited.

  16. Skin Cancer: NIH Research to Results

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Skin Cancer NIH Research to Results Past Issues / Summer 2013 ... successful regression of advanced melanoma. Read More "Skin Cancer" Articles Skin Cancer Can Strike Anyone / Skin Cancer: Biology, Risk ...

  17. Treatment Options for Nonmelanoma Skin Cancer

    Science.gov (United States)

    ... Skin Cancer Skin Cancer Screening Research Skin Cancer Treatment (PDQ®)–Patient Version General Information About Skin Cancer ... Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery ) depends mostly ...

  18. Skin Cancer: Biology, Risk Factors & Treatment

    Science.gov (United States)

    ... turn Javascript on. Feature: Skin Cancer Skin Cancer: Biology, Risk Factors & Treatment Past Issues / Summer 2013 Table ... Articles Skin Cancer Can Strike Anyone / Skin Cancer: Biology, Risk Factors & Treatment / Timely Healthcare Checkup Catches Melanoma ...

  19. Infantile iatrogenic cushing′s syndrome

    Directory of Open Access Journals (Sweden)

    Katar Selahattin

    2008-01-01

    Full Text Available High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing′s syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing′s syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.

  20. Cockayne syndrome in two adult siblings.

    Science.gov (United States)

    Miyauchi, H; Horio, T; Akaeda, T; Asada, Y; Chang, H R; Ishizaki, K; Ikenaga, M

    1994-02-01

    Although survival beyond the second decade is unusual in patients who have Cockayne syndrome, we describe two brothers with the syndrome who are 42 and 55 years of age. Their cultured skin fibroblasts showed extreme UV sensitivity but had almost normal UV-induced unscheduled DNA synthesis. The patients were classified as genetic complementation group B after study of the recovery of RNA synthesis after UV irradiation of fused cells. Clinical phototesting revealed a reduced threshold for UVB erythema.

  1. Sweet syndrome revealing systemic lupus erythematosus.

    LENUS (Irish Health Repository)

    Quinn, N

    2015-02-01

    Sweet Syndrome is an acute inflammatory skin eruption which is rare in children. We report a case of childhood Systemic Lupus Erythematosus (SLE) that presented with Sweet syndrome. This case is a unique presentation of a common disorder which provides a new facet for the differential diagnosis of SLE in children. It is also the first paediatric case to be reported in a Caucasian child.

  2. Membranous nephropathy caused by mercury-containing skin lightening cream.

    OpenAIRE

    D. B Oliveira; Foster, G; Savill, J; Syme, P. D.; Taylor, A.

    1987-01-01

    A 46 year old woman developed membranous nephropathy following the use of a mercury-containing skin lightening cream. This association has not been reported in the literature for over a decade and apparently never from this country. It is important that clinicians are aware of this usually eminently treatable cause of the nephrotic syndrome as it is likely to be missed unless specifically enquired for.

  3. Membranous nephropathy caused by mercury-containing skin lightening cream.

    Science.gov (United States)

    Oliveira, D B; Foster, G; Savill, J; Syme, P D; Taylor, A

    1987-04-01

    A 46 year old woman developed membranous nephropathy following the use of a mercury-containing skin lightening cream. This association has not been reported in the literature for over a decade and apparently never from this country. It is important that clinicians are aware of this usually eminently treatable cause of the nephrotic syndrome as it is likely to be missed unless specifically enquired for.

  4. Characteristics of the Aging Skin.

    Science.gov (United States)

    Farage, Miranda A; Miller, Kenneth W; Elsner, Peter; Maibach, Howard I

    2013-02-01

    Although most researches into the changes in skin with age focus on the unwelcome aesthetic aspects of the aging skin, skin deterioration with age is more than a merely cosmetic problem. Although mortality from skin disease is primarily restricted to melanoma, dermatological disorders are ubiquitous in older people with a significant impact on quality of life. The structural and functional deterioration of the skin that occurs with age has numerous clinical presentations, ranging from benign but potentially excruciating disorders like pruritus to the more threatening carcinomas and melanomas. The degenerative changes that occur in the aging skin are increasingly understood at both the molecular and cellular level, facilitating a deeper understanding of the structural and functional deterioration that these changes produce. A loss of both function and structural stability in skin proceeds unavoidably as individuals age, which is the result of both intrinsic and extrinsic processes, which contribute simultaneously to a progressive loss of skin integrity. Intrinsic aging proceeds at a genetically determined pace, primarily caused by the buildup of damaging products of cellular metabolism as well as an increasing biological aging of the cells. Estrogen levels strongly influence skin integrity in women as well; falling levels in midlife, therefore, produce premature aging as compared with similarly aged men. Extrinsic insults from the environment add to the dermatological signs of aging. A deeper understanding of the physiological basis of skin aging will facilitate progress in the treatment of the unwelcome sequelae of aging skin, both cosmetic and pathogenic.

  5. Towards improved detection and management of Lynch Syndrome

    NARCIS (Netherlands)

    D. Ramsoekh (Dewkoemar)

    2009-01-01

    textabstractLynch syndrome is the most common hereditary colorectal cancer syndrome, responsible for 3-5% of all colorectal cancer (CRC) cases. In addition, tumors of the endometrium, ovaries, stomach, small bowel, biliary tract, urinary tract, skin and brain occur at higher frequencies compared to

  6. The glucagonoma syndrome and necrolytic migratory erythema : A clinical review

    NARCIS (Netherlands)

    van Beek, André P.; de Haas, Ellen R.M.; van Vloten, Willem A.; Lips, Cees J.M.; Roijers, Janine F.M.; Canninga-van Dijk, Marijke R.

    2004-01-01

    The glucagonoma syndrome is a rare disease in which a typical skin disorder, necrolytic migratory erythema, is often one of the first presenting symptoms. Weight loss and diabetes mellitus are two other prevalent characteristics of this syndrome. Necrolytic migratory erythema belongs to the recently

  7. Shah-Waardenburg Syndrome | Mahmoudi | Pan African Medical ...

    African Journals Online (AJOL)

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome ...

  8. POLAND’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Olga E. Agranovich

    2017-03-01

    Full Text Available Poland’s syndrome is a rare congenital condition classically characterized by partial or complete absence of chest muscles on one side of the body and usually webbing of the fingers of the hand on the same side. There may also be rib (aplasia or hypoplasia and chest bone abnormalities, which may be noticeable due to less fat under the skin. Breast and nipple abnormalities may also occur, and underarm hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Poland’s syndrome most often affects the right side of the body and occurs more frequently in males than in females. The etiology is unknown; however, interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries is the prevailing theory. There are many methods of operative correction because of the polymorphic clinical features of this syndrome. We gathered data on the etiology, pathogenesis, and clinical presentation of Poland’s syndrome and reviewed the existing surgical treatment options.

  9. Photothermal Radiometry for Skin Research

    Directory of Open Access Journals (Sweden)

    Perry Xiao

    2016-02-01

    Full Text Available Photothermal radiometry is an infrared remote sensing technique that has been used for skin and skin appendages research, in the areas of skin hydration, hydration gradient, skin hydration depth profiling, skin thickness measurements, skin pigmentation measurements, effect of topically applied substances, transdermal drug delivery, moisture content of bio-materials, membrane permeation, and nail and hair measurements. Compared with other technologies, photothermal radiometry has the advantages of non-contact, non-destructive, quick to make a measurement (a few seconds, and being spectroscopic in nature. It is also colour blind, and can work on any arbitrary sample surfaces. It has a unique depth profiling capability on a sample surface (typically the top 20 µm, which makes it particularly suitable for skin measurements. In this paper, we present a review of the photothermal radiometry work carried out in our research group. We will first introduce the theoretical background, then illustrate its applications with experimental results.

  10. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Yeliz Bilir

    2014-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts, the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

  11. Inherited ichthyosis: Non-syndromic forms.

    Science.gov (United States)

    Takeichi, Takuya; Akiyama, Masashi

    2016-03-01

    Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. This review focuses on updates for each type of non-syndromic ichthyosis, highlighting molecular mechanisms and phenotype/genotype correlations. Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma) and three of the minor subtypes (self-healing collodion baby, acral self-healing collodion baby and bathing suit ichthyosis). Keratinopathic ichthyosis is proposed as an umbrella term for ichthyoses caused by mutations in keratin genes. Next-generation sequencing technologies have become powerful tools for the diagnosis of inherited ichthyoses and the discovery of their genetic causes. This article reviews the current understanding of molecular pathomechanisms for non-syndromic ichthyoses and explores future perspectives. © 2016 Japanese Dermatological Association.

  12. Type VI Aplasia Cutis Congenita: Bart’s Syndrome

    Directory of Open Access Journals (Sweden)

    Ferit Kulalı

    2015-01-01

    Full Text Available Bart’s syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart’s syndrome (BS is diagnosed clinically based on the disorder’s unique signs and symptoms but histologic evaluation of the skin can help to confirm the final diagnosis. The patient was managed conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow-up examinations showed complete healing. We emphasized that it is important to use relatively simple methods for optimal healing without the need for complex surgical interventions.

  13. [Hypersensitivity to fluindione (Previscan). Positive skin patch tests].

    Science.gov (United States)

    Frouin, E; Roth, B; Grange, A; Grange, F; Tortel, M-C; Guillaume, J-C

    2005-12-01

    Fluindione (Previscan) is an oral anticoagulant belonging to the vitamin K antagonist class and is very widely used in France. While bleeding is a common complication, severe immunoallergic reactions are less frequent. The authors report a case of drug-induced hypersensitivity syndrome. A 75 year-old woman was hospitalized for diffuse erythematous papular rash associated with facial oedema. These symptoms appeared 3 weeks after the beginning of treatment with fluindione, allopurinol and perindopril. Laboratory tests showed hyperleukocytosis, mixed hepatitis and moderate renal failure, with the entire picture being evocative of drug-induced hypersensitivity reaction. The eruption was associated with eosinophilia, hepatic cytolysis with cholestasis, and acute renale failure. While allopurinol and perindopril were stopped definitively, fluindione was only suspended temporarily following overdosage. On reintroduction, rapid recurrence of clinical and biologic signs was observed with increased severity. The skin rash resolved completely on withdrawal of the drug. Patch tests performed later were positive for fluindione and negative for allopurinol and perindopril. These manifestations were consistent with the diagnosis of drug-induced hypersensitivity syndrome due to fluindione. Very few cases have been described with fluindione despite widespread prescription of the treatment is in France. While there may be no skin involvement, immunoallergic signs such as fever, hepatitis and acute tubular interstitial nephritis have been described with fluindione and these may be related to this syndrome (DRESS - Drug Reaction with Eosinophilia and Systemic Symptoms). Skin patch testing, which is easily performed, can be extremely helpful in determining a causal relationship with medication.

  14. Skin Manifestations Associated with Autoimmune Liver Diseases: a Systematic Review.

    Science.gov (United States)

    Terziroli Beretta-Piccoli, Benedetta; Invernizzi, Pietro; Gershwin, M Eric; Mainetti, Carlo

    2017-10-09

    Autoimmune liver diseases, which include mainly autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis, and the variant syndromes, are often associated with extrahepatic autoimmune diseases. However, the association with cutaneous diseases is less well described. In the present article, we provide a systematic literature review on skin manifestations linked to each of these four autoimmune liver diseases, excluding skin manifestations of systemic diseases. The association of autoimmune hepatitis with vitiligo is well known, with a particular striking association with type 2 autoimmune hepatitis, a condition occurring almost entirely in children and adolescents, much rarer and more aggressive than type 1 autoimmune hepatitis; probable associations are also identified with alopecia areata, psoriasis, and pyoderma gangrenosum. Primary biliary cholangitis is not linked to lichen planus as previously assumed, but to vitiligo, psoriasis and the very rare amicrobial pustulosis of the folds. The proposed diagnostic criteria for this latter condition include the presence of anti-mitochondrial autoantibodies, the serological hallmark of primary biliary cholangitis. The very strong association of primary sclerosing cholangitis with inflammatory bowel diseases hampers the search for an association with skin diseases, since inflammatory bowel diseases have a strong association with various dermatological condition, including neutrophilic dermatoses and erythema nodosum. Nevertheless, a probable association of primary sclerosing cholangitis with psoriasis is identified in this review. Variant syndromes, also called overlap syndromes, are likely associated with vitiligo as well, which is not surprising, since autoimmune hepatitis is a feature of these conditions and they may share regions of the MHC.

  15. Food Grade Pimenta Leaf Essential Oil Reduces the Attachment of Salmonella enterica Heidelberg (2011 Ground Turkey Outbreak Isolate on to Turkey Skin

    Directory of Open Access Journals (Sweden)

    Divek V. T. Nair

    2017-11-01

    Full Text Available Salmonella attached to the poultry skin is a major source of carcass contamination during processing. Once attached to the poultry skin, it is difficult to detach and inactivate Salmonella by commonly used antimicrobial agents since the pathogen is entrapped deeply in the feather follicles and the crevices on the skin. Essential oils could be natural, safe, and effective alternatives to synthetic antimicrobial agents during commercial and organic processing setup. The present study evaluated the efficacy of pimenta (Pimenta officinalis Lindl. leaf essential oil (PEO, and its nanoemulsion in reducing Salmonella Heidelberg attachment on to turkey (Meleagris gallopavo skin during simulated scalding (65°C and chilling (4°C steps in poultry processing. A multidrug resistant S. Heidelberg isolate from the 2011 ground turkey outbreak in the United States was used in the study. Results showed that PEO and the nanoemulsion resulted in significant reduction of S. Heidelberg attachment on turkey skin. Turkey skin samples treated with 1.0% PEO for 5 min resulted in >2 log10 CFU/sq. inch reduction of S. Heidelberg at 65 and 4°C, respectively (n = 6; P < 0.05. Similarly, skin samples treated with 1.0% pimenta nanoemulsion (PNE for 5 min resulted in 1.5- and 1.8- log10 CFU/sq. inch reduction of S. Heidelberg at 65 and 4°C, respectively (n = 6; P < 0.05. In addition, PEO and PNE were effective in reducing S. Heidelberg on skin during short-term storage at 4 and 10°C (temperature abuse (n = 6; P < 0.05. No Salmonella was detected in the dipping solution containing 0.5 or 1.0% PEO or PNE, whereas a substantial population of the pathogen survived in the control dipping solution. The results were validated using scanning electron -, and confocal - microscopy techniques. PEO or PNE could be utilized as an effective antimicrobial agent to reduce S. Heidelberg attachment to turkey skin during poultry processing.

  16. Cutaneous and mucosal pain syndromes

    Directory of Open Access Journals (Sweden)

    Siddappa K

    2002-01-01

    Full Text Available The cutaneous and mucosal pain syndromes are characterized by pain, burning sensation, numbness or paraesthesia of a particular part of the skin or mucosal surface without any visible signs. They are usually sensory disorders, sometimes with a great deal of psychologic overlay. In this article various conditions have been listed and are described. The possible causative mechanisms are discussed when they are applicable and the outline of their management is described.

  17. Oral allergy syndrome to fig.

    Science.gov (United States)

    Antico, A; Zoccatelli, G; Marcotulli, C; Curioni, A

    2003-06-01

    The few cases of food allergy to fig reported to date, whose main manifestations were anaphylactic reactions, have been related to a cross-sensitisation to weeping fig (Ficus benjamina) or to the 'latex-fruit syndrome'. Here we report on two cases of the oral allergy syndrome (OAS) to fig in patients whose main allergic manifestations were related to sensitisation to grass and birch pollens. The patients were characterised by clinical history, skin prick tests (SPT) with commercial and in-house extracts, prick-by-prick test, specific IgE measurements and challenge tests. PBS-soluble and insoluble extracts of both fig skin and pulp were examined for the presence of potential allergens by IgE immunoblotting. Both patients showed OAS followed by respiratory symptoms when challenged with fig. They were negative in both specific IgE detection and SPT with commercial extracts of fig and many other plant materials, including F. benjamina and Hevea Brasiliensis, while grass and birch pollens gave positive results. Prick-by-prick tests and SPT with in-house extracts indicated that the fig skin had a much higher allergenicity than the pulp. Despite negative IgE detection by the CAP assay, immunoblotting experiments showed that potential fig allergens were PBS-soluble and present only in the skin of the fruit. OAS to fig followed by respiratory symptoms can be present in patients not sensitised to weeping fig or having the latex-fruit syndrome. Different parts of the fig can have different allergenicities, the most important allergens being proteins related to the skin of the fruit. Improved commercial fig extracts to be used for the diagnosis of this type of allergy have to be developed. Copyright 2003 S. Karger AG, Basel

  18. Dumping Syndrome

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  19. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  20. Alagille Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  1. Reye Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  2. Zellweger Syndrome

    Science.gov (United States)

    ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...

  3. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Criton S

    1995-01-01

    Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.

  4. Overlap syndromes

    NARCIS (Netherlands)

    Beuers, Ulrich; Rust, Christian

    2005-01-01

    In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic

  5. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  6. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  7. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  8. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  9. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  10. Alport Syndrome

    Science.gov (United States)

    ... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...

  11. Moebius Syndrome

    Science.gov (United States)

    ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...

  12. Heart and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  13. Down Syndrome: Education

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  14. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  15. Down Syndrome: Education

    Science.gov (United States)

    ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...

  16. Facts About Usher Syndrome

    Science.gov (United States)

    ... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...

  17. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  18. Extensive comedonal and cystic acne in Patau syndrome.

    Science.gov (United States)

    Torrelo, Antonio; Fernandez-Crehuet, Pablo; Del Prado, Elena; Martes, Pilar; Hernández-Martín, Angela; De Diego, Verónica; Carapeto, Francisco

    2010-01-01

    Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker-bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. To our knowledge, widespread comedonal and cystic acne have not been previously reported in Patau syndrome.

  19. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)

    2014-10-15

    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  20. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  1. Langerhans cells in porcine skin.

    Science.gov (United States)

    Nfon, Charles K; Dawson, Harry; Toka, Felix N; Golde, William T

    2008-12-15

    Langerhans cells (LCs) are resident dendritic cells (DCs) of skin and mucosal epithelium. The standard for identifying skin DCs as LCs is expression of langerin (CD207), a surface protein that mediates Birbeck granule (BG) formation upon internalization. Reports of BGs in porcine skin DC are contradictory, due to lack of langerin detection. Here, we present the sequence of porcine langerin/CD207, showing that the predicted porcine protein shares 75%/86% amino acid identity/similarity with human. Langerin mRNA was detected in porcine skin DCs by PCR and langerin protein was detected in both isolated skin DCs and skin sections by immunostaining. Approximately, 50-70% of skin DCs expressed langerin, demonstrating that the majority of porcine skin DCs are LCs. The full length sequence combined with the identification of antibodies reactive with porcine langerin, facilitates the study of LCs in swine, and advances the use of swine for studying skin diseases and infectious disease processes involving skin.

  2. Toxic Shock Syndrome following Tattooing

    Directory of Open Access Journals (Sweden)

    Ki Young Jeong

    2015-08-01

    Full Text Available Toxic shock syndrome (TSS is a rare but life-threatening illness that is mainly caused by toxigenic strains of Staphylococcus aureus. Although TSS is classically known to be associated with tampon use, the number of TSS cases with non-menstrual causes such as skin and soft tissue infection has been increasing. Tattooing can result in several complications such as localized and systemic infections, inflammatory skin eruptions and neoplasms. We recently experienced a 26-year-old man diagnosed with typical TSS following tattooing. He complained of fever, chills and erythematous rash at tattoo site. Subsequently, the patient developed sign of shock. The skin cultures on the tattoo site were positive for methicillin-sensitive Staphylococcus aureus. The patient was successfully treated with vasopressor infusion and intravenous antibiotics and was discharged without complications. On discharge from the hospital 7 days later, desquamations on the tattoo site, fingers and toes were observed.

  3. Epidemiology of skin cancer.

    Science.gov (United States)

    Leiter, Ulrike; Eigentler, Thomas; Garbe, Claus

    2014-01-01

    Melanoma and nonmelanoma skin cancer (NMSC) are now the most common types of cancer in white populations. Both tumor entities show an increasing incidence rate worldwide but a stable or decreasing mortality rate. NMSC is the most common cancer in white-skinned individuals with a worldwide increasing incidence. NMSC is an increasing problem for health care services worldwide which causes significant morbidity. The rising incidence rates of NMSC are probably caused by a combination of increased exposure to ultraviolet (UV) or sun light, increased outdoor activities, changes in clothing style, increased longevity, ozone depletion, genetics and in some cases, immune suppression. An intensive UV exposure in childhood and adolescence was causative for the development of basal cell carcinoma (BCC) whereas for the etiology of SCC a chronic UV exposure in the earlier decades was accused. Cutaneous melanoma is the most rapidly increasing cancer in white populations, in the last 3 decades incidence rates have risen up to 5-fold. In 2008 melanoma was on place 5 in women and on place 8 in men of the most common solid tumor entities in Germany. The frequency of its occurrence is closely associated with the constitutive color of the skin, and the geographical zone. Changes in outdoor activities and exposure to sunlight during the past 50 years are an important factor for the increasing incidence of melanoma. Mortality rates of melanoma show a stabilization in the USA, Australia and also in European countries. In contrast to SCC, melanoma risk seems to be associated with an intermittent exposure to sunlight. Prevention campaigns aim on reducing incidence and achieving earlier diagnosis, which resulted in an ongoing trend toward thin melanoma since the last two decades. However, the impact of primary prevention measures on incidence rates of melanoma is unlikely to be seen in the near future, rather increasing incidence rates to 40-50/100,000 inhabitants/year should be expected in

  4. Climate change and skin.

    Science.gov (United States)

    Balato, N; Ayala, F; Megna, M; Balato, A; Patruno, C

    2013-02-01

    Global climate appears to be changing at an unprecedented rate. Climate change can be caused by several factors that include variations in solar radiation received by earth, oceanic processes (such as oceanic circulation), plate tectonics, and volcanic eruptions, as well as human-induced alterations of the natural world. Many human activities, such as the use of fossil fuel and the consequent accumulation of greenhouse gases in the atmosphere, land consumption, deforestation, industrial processes, as well as some agriculture practices are contributing to global climate change. Indeed, many authors have reported on the current trend towards global warming (average surface temperature has augmented by 0.6 °C over the past 100 years), decreased precipitation, atmospheric humidity changes, and global rise in extreme climatic events. The magnitude and cause of these changes and their impact on human activity have become important matters of debate worldwide, representing climate change as one of the greatest challenges of the modern age. Although many articles have been written based on observations and various predictive models of how climate change could affect social, economic and health systems, only few studies exist about the effects of this change on skin physiology and diseases. However, the skin is the most exposed organ to environment; therefore, cutaneous diseases are inclined to have a high sensitivity to climate. For example, global warming, deforestation and changes in precipitation have been linked to variations in the geographical distribution of vectors of some infectious diseases (leishmaniasis, lyme disease, etc) by changing their spread, whereas warm and humid environment can also encourage the colonization of the skin by bacteria and fungi. The present review focuses on the wide and complex relationship between climate change and dermatology, showing the numerous factors that are contributing to modify the incidence and the clinical pattern of many

  5. Metabolic Syndrome

    Science.gov (United States)

    ... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...

  6. Goodpasture Syndrome

    Science.gov (United States)

    ... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...

  7. [Reye's syndrome].

    Science.gov (United States)

    Yoshida, I

    2000-11-01

    A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.

  8. Reye's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...

  9. [Cardiorenal syndrome].

    Science.gov (United States)

    Salleck, D; John, S

    2017-09-13

    Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.

  10. Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa

    OpenAIRE

    Tampoia, Marilina; Bonamonte, Domenico; Filoni, Angela; Garofalo, Lucrezia; Morgese, Maria Grazia; Brunetti, Luigia; Di Giorgio, Chiara; Annicchiarico, Giuseppina

    2013-01-01

    Background Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes. There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction. For the first time in literature,...

  11. Skin biopsy in the diagnosis of neoplastic skin disease.

    Science.gov (United States)

    Harvey, Nathan Tobias; Chan, Jonathan; Wood, Benjamin Andrew

    2017-01-01

    Biopsy for diagnostic and therapeutic purposes is a central component in the management of neoplastic skin conditions. While the technical aspects of performing biopsies are familiar to most clinicians, a number of other aspects of the skin biopsy pathway are equally important. The objectives of this article are to provide general principles related to the biopsy of neoplastic skin conditions and offer practical advice on the approach to some common skin neoplasms. Careful attention to the selection of biopsy site and type, and communication of appropriate clinical details will ensure optimal patient care, minimising the chance of diagnostic errors with potentially serious medical and medico-legal consequences.

  12. Findings of skin and bones in mastocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Rohner, H.G.; Bartl, R.; Koischwitz, D.; Rodermund, O.E.

    1982-12-01

    The syndrome of mastocytosis can include isolated urticaria pigmentosa, systemic mastocytosis, or the extremely rare form of mast cell leucemia. Our investigations of many patients have shown more frequently than earlier suspected, that the mastocytosis is a systemic disease. The frequency of attacked bone marrow is noteworthy. Because of the inflammatory granulomatous manifestation in bone marrow, considerations of the pathogenesis of an immune and reactive event are taken into account. The mast cell granulomas are mostly found in the endosteal region, which is the reason for frequently occurring bone lesions (half of all patients show bone lesions). The bone changes can develop generalized (osteoporosis-osteosclerosis) or localized (osteolytic-osteosclerotic foci). In clinical work bone biopsies and skeletal radiology are supplementing each other: bone biopsy and skin biopsy give the first diagnosis of mastocytosis and reveal the systemic disease; X-ray pictures give information of shape and dimension of the induced osteopathy.

  13. Conservative procedures in skin reconstitution

    OpenAIRE

    Wollina, Uwe

    2005-01-01

    Skin exerts a number of essential protective functions ensuring homeostasis of the whole body. In the present review barrier function of skin and its expression of antimicrobial peptides are discussed. Barrier function is provided by the dynamic stratum corneum structure composed of lipids and corneocytes. Stratum corneum is a conditio sine qua non for terrestrial life. Impairment of barrier function can be due to injury and inflammatory skin diseases. Therapeutic options are discussed with s...

  14. Itchy lesions in pigmented skin.

    Science.gov (United States)

    Hung, Rachel; Ahmeen, Mahreen; Fleming, Ann; Hoque, Shamali

    2013-10-10

    A 37-year-old woman with type VI skin presented with 1-year history of pruritic lesions affecting her arms, chest and legs. The lesions were approximately 5 mm in diameter, annular and with a raised border. A skin biopsy was performed which showed a diagnosis of disseminated superficial actinic porokeratosis. Porokeratosis is an unusual presentation in pigmented skin and there are very limited reports of this occurrence in the literature.

  15. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

    Science.gov (United States)

    Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

    2017-01-01

    Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

  16. [Dermatopolymyositis and overlap syndromes].

    Science.gov (United States)

    Petrović-Rackov, Lj; Mitrović, D; Andjelković, Z; Popović, M; Janković-Mladenovska, S

    1998-01-01

    Clinical characteristics and immunoserological features of patients with overlap myositis treated in Clinic for Rheumatology of Military Medical Academy in the period 1978-1996 are presented in the study. Retrospective and partially prospective study included 16 patients with the diagnosis of dermatopolymyositis associated with some other systemic disease of connective tissue (SDCT) in overlap syndrome. There were 12-females of average age 37.33 years and 4 males of average age 52.25 years. Complete laboratory investigation included the determination of muscular enzymes values. Immunoserological analyses were also performed (RF, Le cells, ANA, ICs, immunoglobulins, cryoglobulins and complement), EMNG examination of pelvis and shoulder and pH examination of skin, subcutaneous tissue and muscles. The combination of the diseases was found in 11 patients, 7 were with PSS, 2 with SLE, 1 with RA and one with PAN. Three diseases were associated in 4 patients, SLE and RA in 2, PSS and RA in 1, thyroiditis and sicca complex in 1. Five-fold combination of disease was found in 1 patient. More frequent occurrence of fever, polyarthritis, skin manifestations, Raynoud's phenomenon, the involvement of serosas, lungs and heart, histological finding of skin and/or muscle vasculitis and larger presence of ANA, ICs, hypergammaglobulinemia and hypocomplementemia pointed out the dominant disorder of humoral immunity which was most probably connected with associated SDCT.

  17. [Ectoparasites delusions in old age (Ekbom syndrome)].

    Science.gov (United States)

    Sizaret, P; Simon, J P

    1976-01-01

    The writers present the case of a patient diagnosed as suffering from a typical delusion of parasitosis which is also called "Ekbom's Syndrom". They remind the characteristics of an encapsulated delusional system. They try to show the particular role of semantic significations played by the words "parasitis" and "skin" as a defense against a death or inferiority anxiety in old patients.

  18. Waardenburg syndrome in childhood deafness in Cameroon

    African Journals Online (AJOL)

    Waardenburg syndrome (WS) is an inherited disorder in which patients exhibit varying combinations of sensorineural hearing loss and abnormal pigmentation of the eyes, hair and skin.[1-4]. WS is clinically heterogeneous and has been classified into four major types. Type I (WS1,. MIM 193500) is characterised by ...

  19. Ehlers danlos syndrome in two siblings

    Directory of Open Access Journals (Sweden)

    Das M

    2005-01-01

    Full Text Available Two cases of Ehlers-Danlos syndrome affecting two real brothers are being reported. Both of them presented with features of atrophy and hyperextensibility of skin, hypermobility of joints and scarring at the sites of trauma. The elder brother also had kyphoscoliosis and hypogonadism with testicular failure.

  20. Sweet Syndrome After Autologous Stem Cell Transplant.

    Science.gov (United States)

    Alkan, Ali; İdemen, Celal; Okçu Heper, Aylin; Utkan, Güngör

    2016-02-01

    Sweet syndrome (acute febrile neutrophilic dermatosis) is a rare clinical entity characterized by skin lesions, neutrophilia, fever, and neutrophilic infiltration of the dermis. It may be a consequence of malignant disease, comorbidities, or drugs. We present a case of acute febrile neutrophilic dermatosis in a patient after autologous stem cell transplant.