Sample records for angiokeratoma

  1. Solitary angiokeratoma of the tongue. (United States)

    Sion-Vardy, Netta; Manor, Esther; Puterman, Max; Bodner, Lipa


    Angiokeratoma is a rare cutaneous lesion. It can be either a generalized systemic form, presenting as multiple asymptomatic papules on the skin, associated with metabolic diseases or a solitary cutaneous form. Oral cavity involvement is more common in the systemic form, as a part of a more generalized cutaneous disease, but very rare in the localized form of angiokeratoma. A 45-year-old female presented with a painless lesion on the tongue of one months duration, which bled occasionally. On clinical examination, a lesion of approximately 5 mm in diameter was observed on the left surface of the tongue. The lesion was purple in color with a granulomatous appearance. There were no other changes in the oral mucosa. On dermatologic examination, no angiokeratomas were found, anywhere on the skin. The lesion was excised under local anesthesia. The histologic diagnosis was angiokeratoma. A case of a solitary angiokeratoma of the tongue is reported. We report here the third intra-oral case and the second case in the tongue with solitary angiokeratoma.

  2. Angiokeratoma of fordyce in a children

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    Ömer Çalka


    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


    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. Conjunctival Angiokeratoma in a Dog of Neapolitan Mastiff Breed

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    Dunia Yisela Trujillo Piso


    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.

  5. 〈Cases Reports〉Early solitary angiokeratoma with a single dark lacuna and a peripheral whitish veil-like ring in dermoscopy



    [Abstract] Solitary angiokeratomas are dark reddish to blue-blackish warty papules. It may clinically mimic malignant melanomas, verrucas, pigmentedbasal cell carcinomas, blue nevi, or melanocytic nevi. We report a case of early solitary angiokeratoma with a single dark lacuna and a peripheral whitish veil-like ring in dermoscopy. A single dark lacuna may be a simulator of homogenous blue pigmentation such as blue nevus, though it usually has no peripheral whitish veil-like ring. Our case imp...

  6. Disease: H00140 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available age disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural prob...lems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorp

  7. Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia.



    One case and literaturereview. We discuss a case of ten year-old boy withcircumscrite angiokeratoma managed with criotherapy andpartial outcome. Circumscribed angioketatoma is moreinfrequent angiokeratoma. It could appear in birth or first twolife decades, and is more common among females.Generally, it is no symptomatic and 90% of cases find inlegs. There is a discussion: Is it a neoplasia or just avasodilatation?. Treatment consider size, deep and expanselesion; if possible, surgical remove ...

  8. Proteus syndrome

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    George Renu


    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  9. [Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome]. (United States)

    Undas, Anetta; Ryś, Donata; Wegrzyn, Wojciech; Musiał, Jacek


    A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.

  10. Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

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    Neslihan Onenli Mungan


    Full Text Available Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications, renal insuffiency or stroke. Currently there is no cure for Fabry disease, enzyme replacement therapy is the only choice in this progressive disease. A 9-year-old boy admitted to the Dermatology Clinic with reddish papular skin lesions, joint pain and anhydrosis. Hystological examination of the skin biopsy revealed angiokeratoma. There was no renal dysfunction or proteinuria. Biochemical confirmation of Fabry disease was made by determining the deficient leukocyte and #945;-galactosidase activity. Subsequently, the patient's molecular analysis was identified a novel nonsense mutation c. 785G>T in the GLA gene. Enzyme replacement therapy with agalsidase beta was started. He is on enzyme replacement therapy for 8 years, significant improvement was obtained in severity and frequency of pain crisis and fatigue. We report this case to emphasize the importance of early diagnosis of Fabry disease restricted to dermatological findings, especially before renal and cardiac involvement occurs, while enzyme replacement therapy is now available. Also this patient is one of the first Fabry patients under enzyme replacement therapy in Turkey. [Cukurova Med J 2015; 40(Suppl 1: 156-160

  11. Neurological manifestations in Fabry disease

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    Joseph Bruno Bidin Brooks; Yara Dadalti Fragoso


    Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD is an X-linked lysosome storage disorder that results in α-galactosidase A deifciency. The subsequent accumulation of glycosphingolipids is more evident in vascular endothelium and smooth-muscle cells. The resulting effect of the deposition is generalized inlfammation and vasculopathy, which can also affect the central and peripheral nervous system. FD progresses with kidney dysfunction, angiokeratoma of the skin, cardiomyopathy, cerebrovascular events and neurological disorders. In the present review, the neurological manifestations of FD are summarized with emphasis on cerebral vasculopathy, cochlear nerve dysfunction, psychiatric and cognitive symptoms, autonomic dysfunction and peripheral neuropathy. Enzyme replacement therapy is also discussed in the light of its more prominent effects when administered early in life, which make it essential to diagnose FD as soon as possible.

  12. Multiple parapelvic cysts in Fabry disease. (United States)

    Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia


    Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.

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

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    Kultigin Turkmen


    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.

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

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    Karthikeyan K


    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.

  15. [Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects]. (United States)

    Peces, R; Olea, T


    Fabry disease is an X-linked recessive lysosomal storage disorder caused by a partial or complete deficiency of alpha-galactosidase A. Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. Men are predominantly affected but many female carriers have similar clinical involvement, including increased risk of stroke. Physical stigmata, such as angiokeratomas in skin and mucous membranes and characteristic benign corneal abnormalities, facilitate identification of Fabry disease. The finding of a marked decreased activity of (alpha-galactosidase A in plasma, white blood cells or cultured skin fibroblasts confirms the diagnosis. Treatment thus far has been symptomatic only. Etiology-based therapies are being developed that include enzyme replacement therapy, gene therapy, and substrate deprivation. The recently completed double-blind, placebo-controlled trials of intravenous infusions of (alpha-galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of this treatment. We report a family with Fabry disease composed of hemicygous and heterocygous. The propositus developed chronic renal failure and received a cadaver renal transplant, which remained with adequate renal function during 15 years.

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

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    Bhawna Bhutoria


    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.

  17. Fluorescence and reflectance properties of hemoglobin-pigmented skin disorders (United States)

    Troyanova, P.; Borisova, E.; Avramov, L.


    There has been growing interest in clinical application of laser-induced autofluorescence (LIAF) and reflectance spectroscopy (RS) to differentiate disease from normal surrounding tissue, including skin pathologies. Pigmented cutaneous lesions diagnosis plays important role in clinical practice, as malignant melanoma, which is characterized with greatest mortality from all skin cancer types, must be carefully discriminated form other colorized pathologies. The goals of this work were investigation of cutaneous hemoglobin-pigmented lesions (heamangioma, angiokeratoma, and fibroma) by the methods of LIAFS and RS. Spectra from healthy skin areas near to the lesion were detected to be used posteriori in analysis. Fluorescence and reflectance of cutaneous hemoglobin-pigmented lesions are used to develop criterion for differentiation from other pigmented pathologies. Origins of the spectral features obtained are discussed and determination of lesion types is achieved using selected spectral features. The spectral results, obtained were used to develop multispectral diagnostic algorithms based on the most prominent spectral features from the fluorescence and reflectance spectra of the lesions investigated. In comparison between normal skin and different cutaneous lesion types and between lesion types themselves sensitivities and specificities higher than 90 % were achieved. These results show a perspective possibility to differentiate hemoglobin-pigmented lesions from other pigmented pathologies using non-invasive and real time discrimination procedure.

  18. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

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    Sommer Claudia


    Full Text Available Abstract Background Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Methods An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. Results We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. Conclusions Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with

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

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    Majid Alfadhel


    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

  20. 肥厚型心肌病样心肌病五例及其分析%The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy

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    何继强; 韩志红; 任学军; 高阅春; 张晓玲; 姜腾勇


    Objective To explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy.Methods The clinical characteristics,electrocardiogram,serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic cardiomyopathy.Results The electrocardiograms of all patients were abnormal.with prominent left ventricular voltage and ST-T changes.One male patient with clinicopathological features of early onset,muscle weakness,ventricular preexcitation,elevations of two Serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachill muscle cells was diagnosed Danon's disease.Mitochondrial cardiomyopathy was diagnosed in one male patient with early onset,short PR interval and biopsy findings of ragged-red fibers in biceps brachill muscle.Three patients were diagnosed as Fabry's disease with clinical characteristics including pain and acroparesthesias,angiokeratoma and decrease of α-galactosidaseA activity.Conclusion Some of the rare inherited hypertrophic cardiomyopathy misht easily be clinically misdiagnosed as hypertrophic cardiomyopathy,systemic and careful case history inquiring and specific relevant examinations would help to make the right diagnosis in these patients.%目的 探讨以左心室心肌肥厚为重要表型的非肥厚型心肌病的其他遗传性心肌病诊断线索.方法 分析临床中5例因不可解释左心室心肌肥厚初诊肥厚型心肌病而后确诊为其他遗传性心肌病患者的临床特征、生化指标、心电图和确诊方法.结果 5例患者心电图均示左心室高电压,ST-T改变.1例年轻男性伴肌无力、心室预激、丙氨酸转氨酶(ALT)、肌酸激酶(CK)持续升高,肌肉病理活检示肌纤维内含自噬和糖原空泡,诊断Danon's病.1例年轻男性,短P-R间期,肌肉活检可见破碎红纤维,诊断线粒体心肌病.3例有发作性手足痛、皮肤血管角质瘤,血白细胞α-半

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

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    M Palombo


    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.

  2. Evaluación de pacientes con enfermedad de Fabry en la Argentina Evaluation of patients with Fabry disease in Argentina

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    that heterozygous females develop symptoms similar to the males, but comparative information regarding the relative frequency of clinical manifestations, age of onset and severity of the disorder between males and females with Fabry disease is not available in Argentina. We identified 59 symptomatic adult patients with Fabry disease: 32 males (mean age 34.8 years and 27 females (mean age 46.6 years. Diagnosis was made by enzymatic analysis in males and by genetic studies in females. We compared the frequency and severity of the clinical manifestations in females and males with this disease. The most frequent manifestations were: acroparesthesias, angiokeratomas, hypohydrosis (all them were significantly more frequent in males than in females, as well as the severity of symptoms, and cornea verticillata. Proteinuria and ventricular hypertrophy were frequent findings both in males and females. There was a delayed latency between age at onset and age at diagnosis in our group: 14 years for men and 30 years for females. Fabry disease is an underdiagnosed and potentially fatal disorder that affects both sexes. The availability of enzyme replacement therapy should stimulate the identification of signs and symptoms suggestive of this disorder, to allow earlier diagnosis and treatment.