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Sample records for angiokeratoma

  1. Papillary endothelial hyperplasia in angiokeratoma.

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    Mehta, Anurag; Sayal, Satish Kumar; Raman, Deep Kumar; Sood, Aradhana

    2003-01-01

    Papillary endothelial hyperplasia (Masson's tumour) is a reactive proliferation of endothelium producing papillary structures with fibrovascular cores. Dilatation, stasis and accompanying inflammation have been incriminated as the inciting events, evident by the presence of this lesion in haemorrhoids, urethral caruncles and laryngeal polyps. We present here a case of papillary endothelial hyperplasia in angiokeratoma hitherto undescribed despite sharing common etiopathogenetic features of dilatation and stasis with other aforementioned lesions.

  2. Angiokeratoma of fordyce in a children

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    Ömer Çalka

    2014-12-01

    Full Text Available Angiokeratomas are benign tumors characterized by epidermal hyperkeratosis, acanthosis and multiple dilated blood vessels in the papillary dermis. Angiokeratoma of Fordyce is one of five types in the group of the angiokeratomas, which occurs on the scrotum, penis or vulva. It is usually observed in young adults or elderly men. A 6-year-old boy presented to the dermatology department because of papular and erythematous lesions on his scrotum and penis. These lesions were found at birth and were asymptomatic. There was a history of occasional bleeding on trauma from the lesions. Histological evaluation of a skin biopsy specimen showed hyperkeratosis and acanthosis of the epidermis and multiple dilated thin-walled vessels in the papillary dermis. Based on the clinical, histopathological and dermoscopic findings, the patient was diagnosed with Fordyce angiokeratoma. Herein, we report a case of angiokeratomas of Fordyce, which is very rare in childhood and the dermoscopic findings

  3. Angiokeratoma Of the Vulva In A Young Woman

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    Joshi Arun

    1999-01-01

    Full Text Available A 34 year old female had vascular, keratotic papules on her external genitalia for 4 years. The histopathology was diagnostic of angiokeratoma. The case is being reported because of its uncommon occurrence.

  4. Laser treatment of cutaneous angiokeratomas: A systematic review.

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    Nguyen, Jannett; Chapman, Lance W; Korta, Dorota Z; Zachary, Christopher B

    2017-11-01

    Angiokeratomas can present therapeutic challenges, especially in cases of extensive lesions, where traditional surgical methods carry high risks of scarring and hemorrhage. Argon, pulsed dye (PDL), neodymium-doped yttrium aluminum garnet (Nd:YAG), copper vapor, potassium titanyl phosphate, carbon dioxide, and erbium-doped yttrium aluminum garnet (Er:YAG) lasers have emerged as alternative options. To review the use and efficacy of lasers in treating angiokeratomas. A PubMed search identified randomized clinical trials, cohort studies, case series, and case reports involving laser treatment of cutaneous angiokeratomas. Twenty-five studies were included. Quality ratings were assigned using the Oxford Centre for Evidence-Based Medicine scheme. Several laser modalities are effective in treating multiple variants of angiokeratomas. Vascular lasers like PDL, Nd:YAG, and argon are the most studied and of these, PDL offers the safest side effect profile. Nd:YAG may be more effective for hyperkeratotic angiokeratomas. Combination treatment with multiple laser modalities has also demonstrated some success. Lasers are a promising treatment option for angiokeratomas, but current use is limited by the lack of treatment guidelines. There are limited high quality studies comparing laser treatments to each other and to non-laser options. Additional studies are needed to establish guidelines and to optimize laser parameters. © 2017 Wiley Periodicals, Inc.

  5. Lymphangioma circumscriptum, angiokeratoma, or superficial vascular ectasia with epithelial hyperplasia?

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    Katsoulas, Nikolaos; Tosios, Konstantinos I; Argyris, Prokopios; Koutlas, Ioannis G; Sklavounou, Alexandra

    2014-08-01

    We report a case of lymphangioma circumscriptum (cavernous lymphangioma with epithelial hyperplasia) in a 12-year-old girl, presenting as a papillary tumor on the right dorsal side of her tongue. Microscopic examination found cavernous vascular channels lined by a single layer of CD31(+), podoplanin-positive, CD34(-) endothelial cells that occupied the papillary lamina propria and were accompanied by epithelial hyperplasia. A review of the literature on oral vascular tumors with epithelial hyperplasia, namely, lymphangioma circumscriptum and angiokeratoma, provided information that draws into question the use of these terms. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Conjunctival Angiokeratoma in a Dog of Neapolitan Mastiff Breed

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    Dunia Yisela Trujillo Piso

    2015-09-01

    Full Text Available Ocular tumors are frequent in the eye clinic of small animals. They can be primary or secondary, and its location within the eyeball or its attachments may trigger consequences ranging from the loss of aesthetics to affecting the eye’s functionality. This article presents a case of conjunctival angiokeratoma in a five-year-old female dog of Neapolitan Mastiff breed, in the Small Animal Clinic of Universidad Cooperativa de Colombia in Ibagué. The patient was treated for presenting ocular alteration in her left eye characterized by an increase of volume and hyperemia of the third eyelid conjunctiva, with a two-year evolution. During the ophthalmic examination, ocular mucosanguineous discharge, conjunctival hyperemia and follicular conjunctivitis were found. After general and ophthalmic clinical examination was performed, a biopsy of the lesion was performed for a histopathologic evaluation, which determined angiokeratoma in the third eyelid conjunctiva, a rare neoplasia in this type of tissue and in this breed. The treatment used in this case was surgical removal, with favorable results, which led to a complete removal of the tumor without sequelae in the patient.

  7. Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?

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    Wankhade, Vaishali; Singh, Rajesh; Sadhwani, Venus; Kodate, Purnima; Disawal, Amit

    2014-01-01

    Klippel-Trenaunay syndrome (KTS) is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity. The capillary malformation associated with KTS is port wine stain. Angiokeratoma circumscriptum naeviforme (ACN) is a congenital variant of angiokeratoma commonly present on the lower limb as a hyperkeratotic plaque. ACN is rarely associated with KTS. We report a case of ACN with soft tissue hypertrophy and deep ven...

  8. Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?

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    Vaishali Wankhade

    2014-01-01

    Full Text Available Klippel-Trenaunay syndrome (KTS is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity. The capillary malformation associated with KTS is port wine stain. Angiokeratoma circumscriptum naeviforme (ACN is a congenital variant of angiokeratoma commonly present on the lower limb as a hyperkeratotic plaque. ACN is rarely associated with KTS. We report a case of ACN with soft tissue hypertrophy and deep venous malformation (possibly a variant of Klippel-Trenaunay in a 4-year-old male child.

  9. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

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    van der Tol, L.; Cassiman, David; Houge, Gunnar; Janssen, Mirian C.; Lachmann, Robin H.; Linthorst, Gabor E.; Ramaswami, Uma; Sommer, Claudia; Tøndel, Camilla; West, Michael L.; Weidemann, Frank; Wijburg, Frits A.; Svarstad, Einar; Hollak, Carla E. M.; Biegstraaten, Marieke

    2014-01-01

    Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

  10. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

    NARCIS (Netherlands)

    Tol, L. van der; Cassiman, D.; Houge, G.; Janssen, M.C.; Lachmann, R.H.; Linthorst, G.E.; Ramaswami, U.; Sommer, C.; Tondel, C.; West, M.L.; Weidemann, F.; Wijburg, F.A.; Svarstad, E.; Hollak, C.E.M.; Biegstraaten, M.

    2014-01-01

    INTRODUCTION: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

  11. A case report and brief literature review of Klippel-Trénaunay syndrome

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    Choudhary MG

    2012-05-01

    Full Text Available Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs.Keywords: Klippel-Trénaunay syndrome, sporadic, venous varicosities, port-wine stain, angiokeratoma

  12. [Treatable diseases of the nervous system with cataract formation].

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    Baumgartner, R W; Waespe, W

    1993-02-01

    The detection of a cataract in combination with a neurological deficit may provide the physician with important diagnostic help. But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, galactosemia, hypocalcemia, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally. Therefore they are summed up and discussed in this paper.

  13. The central nervous system manifestation and CT findings of Fabry's disease

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    Toyonaga, Kazutaka; Nishihira, Takeo

    1983-01-01

    A case of Fabry's disease with central nervous system dysfunction is reported. This 27-year-old man had recurrent episodes of pains in the extremities when he was a child. Spontaneous clinical remission occured around puberty. He had been well until age 22 when he experienced transient weakness of the left arm. The following year he developed transient blindness of the right eye. Then, he developed weakness in the extremities, dysphagia, dysarthria, and was brought to the hospital in unconscious state. Several members of his family are affected with the same disease presenting leg pains, kidney disease and angiokeratoma. Physical examination disclosed an optic atrophy, pseudobulbar palsy with spastic weakness in the all extremities and multiple angiokeratoma in the flank, buttocks and thighs. Abnormal laboratory findings included leukocytosis, increased ESR and strongly positive CRP. Biopsy of the skin disclosed dilated capilaries with numerous vacuoles in the cytoplasm of the epithelial cells. Thin-layer chromatography of the urine sediment showed a marked increase in ceramide trihexoside. Leukocyte alphagalactosidase level was abnormally low. CT scan showed diffuse cerebral atrophy and multiple low density areas in the thalamus, ventral pons and centrum semiovale. The CT findings and possible mechanism of the response to predonisolone were also discussed. (author)

  14. A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge.

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    Turkmen, Mehmet; Kavukçu, Salih; Çakmakci, Handan; Soylu, Alper; Aktan, Sebnem; Çağan, Yeliz

    2010-09-01

    Klippel-Trenaunay Weber syndrome (KTWS) is the coexistence of capillary vascular malformations, varicose veins, dilated arteries and arteriovenous fistulas, soft tissue and/or bone hypertrophy. We present a girl of KTWS associated with hypertrophied left kidney, enlargement in venous structures of the left kidney, recurrent bloody vaginal discharge and angiokeratomas. A 6-year-old girl was admitted to our department with complaints of recurrent bloody vaginal discharge and swelling in the left inguinal region. Physical examination revealed hypertrophy of the left lower extremity. Vaginoscopy and cystoscopy revealed normal findings. Abdominal ultrasound revealed an enlarged left kidney. Enlargement in the venous structures of the hypertrophied left kidney was detected by abdominal magnetic resonance imaging, and arteriovenous fistulas were revealed by conventional angiography. The patient was diagnosed KTWS. Ophthalmic examination was normal. Galactosidase A (GLA) level was found to be at the lower limit of the normal range, and mutation was not detected in the GLA gene. In conclusion, we have emphasized that the girls with recurrent vaginal discharge might be KTWS. Angiokeratoma may be considered as a dermatological finding of KTWS. KTWS may also have enlarged kidney and enlargement in venous structures of the kidney in hypertrophied side.

  15. Scrotal Rejuvenation

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    2018-01-01

    Genital rejuvenation is applicable not only to women (vaginal rejuvenation) but also to men (scrotal rejuvenation). There is an increased awareness, reflected by the number of published medical papers, of vaginal rejuvenation; however, rejuvenation of the scrotum has not received similar attention in the medical literature. Scrotal rejuvenation includes treatment of hair-associated scrotal changes (alopecia and hypertrichosis), morphology-associated scrotal changes (wrinkling and laxity), and vascular-associated scrotal changes (angiokeratomas). Rejuvenation of the scrotum potentially may utilize medical therapy, such as topical minoxidil and oral finasteride, for scrotal alopecia and conservative modalities, such as depilatories and electrolysis, for scrotal hypertrichosis. Lasers and energy-based devices may be efficacious for scrotal hypertrichosis and scrotal angiokeratomas. Surgical intervention is the mainstay of therapy for scrotal laxity; however, absorbable suspension sutures are postulated as a potential intervention to provide an adequate scrotal lift. Hair transplantation for scrotal alopecia and injection of botulinum toxin into the dartos muscle for scrotal wrinkling are hypothesized as possible treatments for these conditions. The interest in scrotal rejuvenation is likely to increase as men and their physicians become aware of both the conditions of the scrotum that may warrant rejuvenation and the potential treatments of the scrotum for these individuals. PMID:29755912

  16. Skin Examination: An Important Diagnostic Tool in Renal Failure Patients.

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    Van de Velde-Kossmann, Karen M

    2018-01-01

    Renal failure is common in the United States with an estimated prevalence of 660,000 treated end-stage renal disease patients in 2015 [1]. Causes of renal failure are many, and complications from renal failure, underlying disease, and treatment are not infrequent. Examples of common skin manifestations include xerosis, pigmentary change, and nail dystrophies. Frequent disease-specific skin changes may be helpful in the diagnosis of primary disorders leading to renal disease or severity of disease including bullosis diabeticorum, sclerodactyly, or leukoctoclastic vasculitis. Some cutaneous changes, such as the multiple angiokeratomas of Fabry disease or the plexiform neurofibromas of neurofibromatosis, are pathognomonic of genetic disorders, which often lead to renal failure. Careful examination of the skin can provide crucial clues to diagnosis of renal failure causation and aid in monitoring complications. © 2018 S. Karger AG, Basel.

  17. Early Renal Involvement in a Girl with Classic Fabry Disease.

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    Perretta, Fernando; Antongiovanni, Norberto; Jaurretche, Sebastián

    2017-01-01

    Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.

  18. The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

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    Kultigin Turkmen

    2016-12-01

    Full Text Available Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males of 313 CKD patients (0.95% were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%, tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%, heat intolerance (71%, and abdominal pain (57%. The most frequent manifestations in female patients were fatigue and cornea verticillata (50%, and tinnitus, vertigo and angiokeratoma (25%. Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin.

  19. Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports.

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    Patil, Rajesh B; Joglekar, V K

    2014-01-01

    We present 2 cases of teenager males presented with burning pain in extremities and turned out to be cases of Fabry disease.The purpose of presenting this case is to highlight the fact that suspicion of Fabry disease in patients presenting with these symptoms will lead to early diagnosis and treatment of this condition before occurrences of complications. A 14-year-old male presented with severe burning pain in both hands and feet since last 4 yrs which persisted despite consumption of painkillers and becoming more disabling and without having any family history for such condition. On general examination patient had small reddish coloured lesions around the umbilicus, appearing like angiokeratomas. Skin biopsy confirmed the lesion. On enzyme assay his alpha galactosidase activity found to be '0' nmol/hr/mg of protein, confirming his diagnosis. Patient's creatinine and 2 D ECHO were normal and urine had 1+ proteinuria. Patient started on carbamazepine tablets for pain and referred to higher centre for genetic diagnosis and enzyme replacement therapy. CASE REPORT 2: An 18-year-old male referred to our hospital by general practitioner for fatigue and pedal oedema with deranged renal function tests. On history taking patient gave history of severe burning pain in both hands and feet since age of 9 yrs. Patient's general examination revealed hypertension with pallor, pedal oedema along with angiokeratomas in bathing suit distribution. Patient's ultrasonography of kidney revealed bilaterally normal sized kidneys with altered echotexture and urine examination showed fine granular foamy cells with sub nephrotic range proteinuria. 2 D ECHO revealed concentric left ventricular hypertrophy. Skin biopsy report supported the diagnosis of Fabry disease. Patient advised to undergo renal biopsy to confirm Fabry nephropathy but patient denied any further diagnostic workup for nephropathy or Fabry disease. Patient started on conservative treatment and carbamazepine in renal dose

  20. Lichen sclerosis: clinicopathological study of 60 cases from Lebanon.

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    Knio, Zeina; Kurban, Mazen; Abbas, Ossama

    2016-10-01

    Lichen sclerosus (LS) is an uncommon idiopathic chronic inflammatory debilitating disease with predilection for the genital region. Our recent encounter with an LS case exhibiting perineural inflammation microscopically prompted us to assess the features of all patients diagnosed with LS at our institution. All cases of LS diagnosed between 1990 and 2014 were retrospectively reviewed. Diagnosis was confirmed with demonstration of microscopic features typical of LS. Sixty patients (42 women and 18 men) with 65 biopsy specimens of LS were identified, of which 41 were extragenital, 16 genital, and three had both. Histopathologically, significantly higher proportions of follicular plugging, atrophy, and vacuolar interface changes were observed in extragenital LS cases, while angiokeratoma-like, mycosis fungoides-like, and pseudoepitheliomatous changes were only seen in genital LS. Perineural inflammation was observed as a novel finding in 22 cases (33.8%) of LS. Features of patients with LS in this study are generally comparable to those published in the literature, with some differences. In contrast to the literature, extragenital LS was more frequently encountered. Histopathologically, perineural inflammation was not an uncommon feature of LS and thus may serve as a clue in the differentiation of LS from its mimickers. © 2016 The International Society of Dermatology.

  1. Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease.

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    Kim, Ji-Hoon; Kim, Gee-Hee; Park, Hoon-Suk; Choi, Jin-A; Bae, Jung-Min; Cho, Uiju

    2017-03-01

    We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

  2. Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease

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    Thomas Duning

    2009-07-01

    Full Text Available Fabry disease (FD is an X-linked lysosomal storage disorder characterized by a deficient activity of the enzyme α-galactosidase A, resulting in a vasculopathic involvement of various organ systems, e.g. cerebral structures. Marked cerebral vasculopathy with subsequent white matter lesions (WML are a frequent finding in FD patients. Recent studies discussed an association between cerebral white matter changes and sleep-related disturbances of breathing, which may lead to excessive daytime sleepiness (EDS. A 56-year-old Caucasian female FD patient with EDS was admitted to our sleep laboratory. Overnight polysomnography showed a Cheyne-Stokes respiration pattern with significant O2 desaturation. MR imaging revealed confluent WML including the brain stem, but no renal or cardiac involvement. We then evaluated the clinical data of 49 genetically proven FD patients (27 males; mean age 43 years from our FD centre. With a frequency of 68%, EDS exceeds the prevalence of other common symptoms of FD (angiokeratomas 61%; acroparaesthesia 51%; renal involvement 29%; cardiac involvement 27%, and the prevalence of chronic fatigue (48%. EDS was independently associated with the physical component summary of the SF-36 data (corrected R2 =–0.323, p 2 = –0.253, p < 0.001. We conclude that EDS is a common and underdiagnosed symptom in FD patients, accompanied by a significant impact on quality of life. EDS might be caused by central breathing disorders due to an affection of brain regions associated with respiratory control in FD.

  3. Lewandowsky and Lutz dysplasia: Report of two cases in a family

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    Bhawna Bhutoria

    2011-01-01

    Full Text Available Lewandowsky and Lutz dysplasia, also known as epidermodysplasia verruciformis (EV, is an inherited disorder in which there is widespread and persistent infection with human papilloma virus, defect in cell-mediated immunity and propensity for malignant transformation. Differential clinical and histopathologic evolutions of lesions in two cases of familial EV are compared and discussed in detail. Cases were followed up for 7 years. Detailed history, clinical features and investigations, including skin biopsy from different sites at different times, were examined. Generalized pityriasis versicolor like hypopigmented lesions in both the cases, together with variable pigmented nodular actinic keratosis like lesions on sun-exposed areas, were present. Multiple skin biopsies done from various sites on different occasions revealed features typical of EV along with lesions, i.e., actinic keratosis, Bowen′s disease, basal and squamous cell carcinoma, in the elder sibling. However, skin biopsy of the other sibling showed features of EV and seborrheic keratosis only till date. This study reveals that the disease progression is variable among two individuals of the same family. Malignant lesions were seen only on sun-exposed areas and may be associated with other skin lesions or infections such as angiokeratoma of Fordyce and tinea cruris, as seen in this report.

  4. Non-Venereal Dermatoses In Male Genital Region-Prevalence And Patterns In A Referral Centre In South India

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    Karthikeyan K

    2001-01-01

    Full Text Available A series of 100 male patients with non-venereal dermatoses of external genitalia were screened amongst patients visiting Dermatology OPD of JIPMER, Pondicherry from Aug ’97 to March ’99. The overall prevalence was found to be 14.1 per 10,000. Non-venereal dermatoses were common in the 21-40 years age group. Most of the patients (74% belonged to labourer class. A total of 25 different non-venereal dermatoses were studied. Genital vitiligo was the most common disorder accounting for 16 cases. Sebaceous cyst of the scrotum was present 13 patients. Among infections and infestations, scabies was observed in 9 patients. Ariboflavinosis was seen in 9 cases. Other disorders encountered were calcinosis scrotum. Iymphangiectasia of the scrotum. Lichen simplex chronicus. Fixed drug eruption, angiokeratoma of Fordyce, lichen sclerosus et atrophicus etc. The study has been quite useful in understanding the clinical and aetiological characteristics of various types of non-veneral dermatoses in males in this subcontinen of Asia.

  5. Novel alpha-galactosidase A mutation in a female with recurrent strokes.

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    Tuttolomondo, Antonino; Duro, Giovanni; Miceli, Salvatore; Di Raimondo, Domenico; Pecoraro, Rosaria; Serio, Antonia; Albeggiani, Giuseppe; Nuzzo, Domenico; Iemolo, Francesco; Pizzo, Federica; Sciarrino, Serafina; Licata, Giuseppe; Pinto, Antonio

    2012-11-01

    Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-causing alpha-galactosidase A mutations have been identified, including missense mutations, small deletions/insertions, splice mutations, and large gene rearrangements We report a case of a 56-year-old woman with recurrent cryptogenic strokes. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. She did not show other typical signs of Fabry disease such as acroparesthesias and angiokeratoma. The patient's alpha-galactosidase A activity was 4.13 nmol/mL/h in whole blood. Alpha-galactosidase A gene sequence analysis revealed a heterozygous single nucleotide point mutation at nucleotide c.550T>A in exon 4 in this woman, leading to the p.Tyr184Asn amino acid substitution. Copyright © 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  6. Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.

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    Liu, Dan; Hu, Kai; Schmidt, Marie; Müntze, Jonas; Maniuc, Octavian; Gensler, Daniel; Oder, Daniel; Salinger, Tim; Weidemann, Frank; Ertl, Georg; Frantz, Stefan; Wanner, Christoph; Nordbeck, Peter

    2018-05-24

    To evaluate potential risk factors for stroke or transient ischemic attacks (TIA) and to test the feasibility and efficacy of a Fabry-specific stroke risk score in Fabry disease (FD) patients without atrial fibrillation (AF). FD patients often experience cerebrovascular events (stroke/TIA) at young age. 159 genetically confirmed FD patients without AF (aged 40 ± 14 years, 42.1% male) were included, and risk factors for stroke/TIA events were determined. All patients were followed up over a median period of 60 (quartiles 35-90) months. The pre-defined primary outcomes included new-onset or recurrent stroke/TIA and all-cause death. Prior stroke/TIA (HR 19.97, P TIA in FD patients without AF. A Fabry-specific score was established based on above defined risk factors, proving somehow superior to the CHA 2 DS 2 -VASc score in predicting new-onset or recurrent stroke/TIA in this cohort (AUC 0.87 vs. 0.75, P = .199). Prior stroke/TIA, angiokeratoma, renal dysfunction, left ventricular hypertrophy, and global systolic dysfunction are independent risk factors for new-onset or recurrent stroke/TIA in FD patients without AF. It is feasible to predict new or recurrent cerebral events with the Fabry-specific score based on the above defined risk factors. Future studies are warranted to test if FD patients with high risk for new-onset or recurrent stroke/TIA, as defined by the Fabry-specific score (≥ 2 points), might benefit from antithrombotic therapy. Clinical trial registration HEAL-FABRY (evaluation of HEArt invoLvement in patients with FABRY disease, NCT03362164).

  7. Enzyme replacement therapy for Fabry disease: some answers but more questions

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    Majid Alfadhel

    2011-02-01

    Full Text Available Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of Endocrinology, Department of Medicine, Vancouver Hospital and Health Sciences Centre, University of British Columbia, Vancouver, BC, CanadaAbstract: Fabry disease (FD is a multisystem, X-linked disorder of glycosphingolipid metabolism caused by enzyme deficiency of α-galactosidase A. Affected patients have symptoms including acroparesthesias, angiokeratomas, and hypohidrosis. More serious manifestations include debilitating pain and gastrointestinal symptoms, proteinuria and gradual deterioration of renal function leading to end-stage renal disease, hypertrophic cardiomyopathy, and stroke. Heterozygous females may have symptoms as severe as males with the classic phenotype. Before 2001, treatment of patients with FD was supportive. The successful development of enzyme replacement therapy (ERT has been a great advancement in the treatment of patients with FD and can stabilize renal function and cardiac size, as well as improve pain and quality of life of patients with FD. In this review, we have provided a critical appraisal of the literature on the effects of ERT for FD. This analysis shows that data available on the treatment of FD are often derived from studies which are not controlled, rely on surrogate markers, and are of insufficient power to detect differences on hard clinical endpoints. Further studies of higher quality are needed to answer the questions that remain concerning the efficacy of ERT for FD.Keywords: Fabry disease, agalsidase α, agalsidase β, Replagal, Fabrazyme, critical appraisal, evidence-based medicine

  8. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  9. Fabry disease in light of recent review

    International Nuclear Information System (INIS)

    Uyama, Eiichiro

    2008-01-01

    Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding α-galactosidase A on Xq22.1. Typically hemizygous male patients exhibit classic phenotypes such as angiokeratoma, acroparesthesias, episodic pain ''crises,'' hypohidrosis, and whorl-shaped corneal opacities from childhood. However, during adulthood, they gradually develop kidney failure, heart disease, and strokes resulting in early death between 40 to 50 years of age. However, recent studies have indicated a high prevalence of disabling clinical symptoms in heterozygous females patients. Patients having the cardiac variant of Fabry's disease exhibit only left ventricular hypertrophy, while patients having the renal variant exhibit only kidney failure. Individuals affected by these variants show higher residual enzyme activity of α-galactosidase A than individuals affected by the classic form of Fabry's disease due to missense mutations of the GLA gene. The cerebrovascular involvement in Fabry disease is not rare in both adult hemizygotes and heterozygotes. Infarctions caused by the occlusions of small vessels involving mostly the vertebrobasilar region in approximately two-thirds of the cases, and that is associated with the deposition glycosphingolipids including GL-3 in the walls of these vessels. In Caucasian patients, elongated, ectatic, and tortuous vertebral and basilar arteries are frequently observed on MR angiography (MRA)s. Life-threatening megadolichobasilar anomaly with thrombosis has been identified in a large Hungarian family in which the family members share L16P mutation. On performing MRI, an increased signal intensity was observed in the pulvinar in T 1 -weighted images; this is the characteristic so-called ''pulvinar sign''. Enzyme replacement therapy has been approved in Japan since 2004 and 2007 for agalsidase β and agalsidase α, respectively. This treatment modestly improves the small-fiber neuropathy, hypohidrosis, hypertrophic cardiomyopathy

  10. Fabry’s disease in children: analysis of personal observations, treatment possibilities

    Directory of Open Access Journals (Sweden)

    A. N. Semyachkina

    2018-01-01

    Full Text Available The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease. The disease is associated with the sphingolipids dysmetabolism, is caused by the accumulation of the globotriosylceramide (Gb3 and othersphingolipidsin the organism tissues and cells; it is characterized by the progression and severity of the course. The diagnostic results of 6 patient children aged from 5 to 17 years are analyzed; 2 boys and 4 girls from 3 families. The hereditary burden with a large number of the disease cases, 16 patients in 3 families including 6 children, comes under notice. All 6 children were diagnosed with Fabry’s disease based on the genealogical analysis as well as biochemical and molecular genetic examination. The activity of α-galactosidase A enzyme in the blood leukocytes was significantly decreased in two boys, insignificantly decreased in two sisters, and was normal in two girls. When performing the molecular genetic analysis, 3 mutations in exon 5 of GLA gene were identified. It has been established that the damages of cardiovascularsystem and nervoussystem, kidneys and visual organ, depression of the perspiratory gland function shall be considered as the first clinical signs of the disease in the children; it seems likely that the angiokeratoma appearance is characteristic only for boys. The presence of the non-specific symptoms and signs of the connective tissue dysplasia is noteworthy. The emphasis is made towards the importance of the early Fabry’s disease diagnosis, as it is essential for the timely (prior to appearance of the clinical symptoms and signs beginning of the pathogenic treatment with the enzyme replacement drug. 

  11. Córnea verticilata - marcador clínico da doença de Fabry: relato de caso Cornea verticillata - a clinical marker of Fabry disease: case report

    Directory of Open Access Journals (Sweden)

    Cynthia Azeredo Cordeiro

    2007-08-01

    Full Text Available A doença de Fabry é erro inato do metabolismo dos glicoesfingolipídeos (GL, resultante da atividade deficiente da enzima alfa-galactosidase A (a-Gal, com herança ligada ao cromossomo X. O acúmulo progressivo de GL nos tecidos resulta nas manifestações clínicas da doença, mais evidentes em homens hemizigotos, e incluem angioqueratomas, acroparestesias, córnea verticilata, hipo-hidrose, envolvimento cardíaco, renal e manifestações cerebrovasculares. Foi realizada avaliação em família acometida pela doença, sendo dois pacientes do sexo feminino e três do sexo masculino. Todos os pacientes foram submetidos a anamnese, exame oftalmológico completo e dosagem da atividade da enzima a-Gal. O único achado clínico presente em todos foi a córnea verticilata. Isto demonstra o importante papel que o exame oftalmológico apresenta no diagnóstico da doença, já que as alterações oculares são tão características.Fabry's disease is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.

  12. Enfermedad de Fabry: Comunicación de ocho casos Fabry disease: Report of eight cases

    Directory of Open Access Journals (Sweden)

    M Palombo

    2011-12-01

    newborns suggests a much higher incidence. The main clinical traits include cutaneous lesions (angiokeratomas, progressive renal damage with proteinuria, painful neuropathy predominantly affecting the hands and feet (acroparesthesias, myocardial hypertrophy, gastrointestinal manifestations, corneal dystrophy and hypohidrosis. This entails severe progressive multi-system involvement leading to premature death. More than 600 mutations have been described worldwide most of which are private or particular mutations of a single family. We report a 28 years-old woman who consulted to one of us and since 2010 eight cases of the same family were studied and treated with support and enzyme replacement therapy in order to delay the damage to the end organ.