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Sample records for angiokeratoma

  1. Eyelid angiokeratoma

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    Ramadan S. Hussein

    2014-01-01

    Full Text Available Angiokeratoma is a rare, usually acquired muco-cutaneous wart-like vascular lesion that is frequently reported in the scrotum. Bleeding may occur if angiokeratoma is excoriated or traumatized. We report an exceedingly rare solitary eyelid angiokeratoma in an otherwise normal middle aged male. Our case represents the second case in the English peer reviewed literature since 1966, when the first case of eyelid angiokeratoma was reported.

  2. Angiokeratoma of Vulva Mimicking Genital Warts

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    Dhawan, Amit Kumar; Pandhi, Deepika; Goyal, Surbhi; Bisherwal, Kavita

    2014-01-01

    Angiokeratoma of vulva is a relatively rare lesion which is occasionally misdiagnosed as melanoma, pyogenic granuloma, seborrheic keratosis, or genital warts. We report a case of vulvar angiokeratomas which were diagnosed and managed as genital warts. All asymptomatic dull red-colored papules over vulva should be subjected to astute clinical and histological examination to diagnose angiokeratoma and differentiate it from other lesions.

  3. 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

  4. Scrotal angiokeratoma (Fordyce): histopathological and ultrastructural findings.

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    Gioglio, L; Porta, C; Moroni, M; Nastasi, G; Gangarossa, I

    1992-01-01

    Bioptic findings related to four cases of scrotal angiokeratoma-Fordyce, were studied under light and electron microscopy. A particular heterogeneity of the structural and ultrastructural patterns typical of this lesion was thus observed. Light microscopy study pointed out, in particular, different degrees of dilation of papillary vessels, whereas ultrastructural study highlighted marked alterations of endothelial cells with structural and quantitative modifications of cytoplasmic organelles. PMID:1576434

  5. 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.

  6. Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.

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    McCallum, D. I.; Macadam, R. F.; Johnston, A.W.

    1980-01-01

    Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.

  7. Giant Angiokeratoma of Fordyce over the Vulva in a Middle-Aged Woman: Case Report and Review of Literature

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    Kudur, Mohan H; Manjunath Hulmani

    2013-01-01

    Angiokeratoma of Fordyce occurring over vulva is rare. Angiokeratoma of Fordyce commonly occurs in males over scrotum or penile shaft and presents as multiple verrucous reddish papules. They are usually asymptomatic and noticed accidentally. In the present article, we present and review the literature of giant angiokeratoma of Fordyce in middle-aged women due to its rarity.

  8. 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.

  9. Angiokeratoma of Fordyce response to long pulsed Nd:YAG laser treatment.

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    Zeng, Ying; Zhan, Kui; Xie, Wen-Lian; Lin, Qiong-Zhu

    2016-01-01

    Angiokeratoma of Fordyce can be easily diagnosed by their typical erythra and cured by varied therapeutic methods including surgery, electrocoagulation, cryotherapy, or various laser systems. Which are the optimal therapeutic methods? There are no consentaneous opinions in the reported articles. We present our characteristic treatment with the application of long pulsed neodymium-dopedyttrium-aluminum-garne (lpNd:YAG) laser in the treatment of angiokeratoma of Fordyce. A 1064 nm lpNd:YAG laser (spot size: 5 mm/7 mm, energy:90-130 J/cm(2) , and pulse duration: 10-20 ms.) was used to treat the patient's lesions. The desirable clinical endpoint of the treatment was lesions shrunk and turned pallor immediately after the irradiation. The treatment interval was at least 8 weeks. Of the 11 patients, 9 of them were cured and 2 of them were improved. The mean treatment sessions were 2.2 times. None of them had a scar formation and any other side effects. All of them were satisfied with the treatment results. We conclude that angiokeratoma of Fordyce responded well to lpNd:YAG laser treatment. It provided a simple, rapid, and no bleeding treatment in treating Angiokeratoma of Fordyce. PMID:26531316

  10. Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser.

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    Baumgartner, Ján; Šimaljaková, Mária; Babál, Pavel

    2016-06-01

    Angiokeratomas are rare vascular mucocutaneous lesions characterized by small-vessel ectasias in the upper dermis with reactive epidermal changes. Angiokeratoma circumscriptum (AC) is the rarest among the five types in the current classification of angiokeratoma. We present a case of an extensive AC in 19-year-old women with Fitzpatrick skin type I of the left lower extremity, characterized by a significant morphological heterogeneity of the lesions, intermittent bleeding, and negative psychological impact. Histopathological examination after deep biopsy was consistent with that of angiokeratoma. The association with metabolic diseases (Fabry disease) was excluded by ophthalmological, biochemical, and genetic examinations. Nuclear magnetic resonance imaging has not detected deep vascular hyperplasia pathognomic for verrucous hemangioma. The combined treatment with 595-nm variable-pulse pulsed dye laser (VPPDL) and 755-nm long-pulse pulsed alexandrite laser (LPPAL) with dynamic cooling device led to significant removal of the pathological vascular tissue of AC. Only a slight degree of secondary reactions (dyspigmentations and texture changes) occurred. No recurrence was observed after postoperative interval of 9 months. We recommend VPPDL and LPPAL for the treatment of extensive AC. PMID:26736060

  11. Genetics Home Reference: Schindler disease

    Science.gov (United States)

    ... N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci. 2002 May;29(1):42-8. Citation ... in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15-20. Epub ...

  12. 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

  13. 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

  14. Proteus syndrome

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    George Renu

    1993-01-01

    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.

  15. Capillary malformations: a classification using specific names for specific skin disorders.

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    Happle, R

    2015-12-01

    The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of

  16. [Dermatological diseases of the external male genitalia : Part 1].

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    Köhn, F M; Schultheiss, D; Krämer-Schultheiss, K

    2016-06-01

    The urological examination of male patients includes an inspection of the external genitalia whereby a variety of dermatological alterations can be found. Not all dermatological findings are of clinical relevance. Pearly penile papules and heterotopic sebaceous glands are examples of normal physiological variations. Most penile melanotic macules, angiokeratomas, fibromas and angiomas do not have to be treated; however, penile skin lesions may also be symptoms of other diseases, such as circinate balanitis in Reiter's syndrome and multiple angiokeratomas in Fabry's disease. A typical manifestation of reactions to various drugs is the fixed drug eruption of penile skin. The differential diagnosis of various forms of balanoposthitis may be difficult and requires histological investigations (e.g. plasma cell balanitis or Zoon's disease). In contrast, the clinical manifestation of lichen sclerosus et atrophicus is easy to recognize. The clinical relevance of this disease is due to phimosis and problems during sexual intercourse. PMID:27250104

  17. Pigmented Lesions of the Vulva

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    Gürol Açıkgöz; Çağlayan Çağdaş Demirci; Ercan Arca

    2012-01-01

    Pigmented lesions on the vulva are rare and their non specific features cause difficulties in their diagnosis and differential diagnosis. Because of their localization, it is difficult to follow up vulvar lesions, which are generally noticed coincidentally by patients. Vulvar pigmented lesions are classified clinically as macules/papules and patches/plaques to provide ease of the diagnosis. Nevi, angiokeratomas, seborrheic keratosis, melanoma, basal cell carcinoma and squamous cell carcinoma ...

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

    OpenAIRE

    Choudhary MG; Haq ZU; Sehra RN; Chahar CK

    2012-01-01

    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...

  19. Central nervous system manifestation and CT findings of Fabry's disease. Case report

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    Toyonaga, Kazutaka; Nishihira, Takeo (Okinawa Central Hospital (Japan))

    1983-11-01

    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.

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

    International Nuclear Information System (INIS)

    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)

  1. Dermoscopy, confocal laser microscopy, and hi-tech evaluation of vascular skin lesions: diagnostic and therapeutic perspectives.

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    Grazzini, Marta; Stanganelli, Ignazio; Rossari, Susanna; Gori, Alessia; Oranges, Teresa; Longo, Anna Sara; Lotti, Torello; Bencini, Pier Luca; De Giorgi, Vincenzo

    2012-01-01

    Vascular skin lesions comprise a wide and heterogeneous group of malformations and tumors that can be correctly diagnosed based on natural history and physical examination. However, considering the high incidence of such lesions, a great number of them can be misdiagnosed. In addition, it is not so rare that an aggressive amelanotic melanoma can be misdiagnosed as a vascular lesion. In this regard, dermoscopy and confocal laser microscopy examination can play a central role in increasing the specificity of the diagnosis of such lesions. In fact, the superiority of these tools over clinical examination has encouraged dermatologists to adopt these devices for routine clinical practice, with a progressive spread of their use. In this review, we will go through the dermoscopic and the confocal laser microscopy of diagnosis of most frequent vascular lesions (i.e., hemangiomas angiokeratoma, pyogenic granuloma, angiosarcoma) taking into particular consideration the differential diagnosis with amelanotic melanoma. PMID:22950556

  2. Vulvanın Pigmente Lezyonları

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    Gürol Açıkgöz

    2012-06-01

    Full Text Available Pigmented lesions on the vulva are rare and their non specific features cause difficulties in their diagnosis and differential diagnosis. Because of their localization, it is difficult to follow up vulvar lesions, which are generally noticed coincidentally by patients. Vulvar pigmented lesions are classified clinically as macules/papules and patches/plaques to provide ease of the diagnosis. Nevi, angiokeratomas, seborrheic keratosis, melanoma, basal cell carcinoma and squamous cell carcinoma are classified under the macules/papules, and post-inflammatory hyperpigmentation, physiological hyperpigmentation, melanosis and acanthosis nigricans are classified under the patch/plaque. Dermatoscopic examination, which is increasing recently, is very valuable for avoiding possible cosmetic and functional complications of surgical procedures. However, epidermal pigmentations such as vulvar melanosis and vulvar intraepitelyal neoplazi are dermatoscopically indistinguishable. It may also be difficult to diagnose vulvar melanoma clinically and dermatoscopically. Histological examination is the gold standard for the diagnosis of pigmented vulvar lesions, which are clinically and dermatoscopically indistinguishable.

  3. 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.

  4. Pigmented Lesions of the Vulva

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    Gürol Açıkgöz

    2012-06-01

    Full Text Available Pigmented lesions on the vulva are rare and their non specific features cause difficulties in their diagnosis and differential diagnosis. Because of their localization, it is difficult to follow up vulvar lesions, which are generally noticed coincidentally by patients. Vulvar pigmented lesions are classified clinically as macules/papules and patches/plaques to provide ease of the diagnosis. Nevi, angiokeratomas, seborrheic keratosis, melanoma, basal cell carcinoma and squamous cell carcinoma are classified under the macules/papules, and post-inflammatory hyperpigmentation, physiological hyperpigmentation, melanosis and acanthosis nigricans are classified under the patch/plaque. Dermatoscopic examination, which is increasing recently, is very valuable for avoiding possible cosmetic and functional complications of surgical procedures. However, epidermal pigmentations such as vulvar melanosis and vulvar intraepitelyal neoplazi are dermatoscopically indistinguishable. It may also be difficult to diagnose vulvar melanoma clinically and dermatoscopically. Histological examination is the gold standard for the diagnosis of pigmented vulvar lesions, which are clinically and dermatoscopically indistinguishable. (Turk J Dermatol 2012; 6: 39-44

  5. 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.

  6. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.

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    Navarro, Carmen; Teijeira, Susana; Dominguez, Carmen; Fernandez, Jose M; Rivas, Eloy; Fachal, Carmen; Barrera, Soraya; Rodriguez, Carmen; Iranzo, Pilar

    2006-02-01

    Fabry disease is a rare X-linked lysosomal storage disorder due to alpha galactosidase A deficiency, better known after the advent of a promising treatment, a periodical enzyme replacement. As other hereditary X-linked disorders, females have historically been considered non-affected carriers, although they are, actually, clinically and pathologically affected to a variable degree. Some women are asymptomatic, but the majority present milder forms of the disease and later onset. This wide range of disease expression is supposed to be related to the levels of enzymatic activity, probably in accordance with a skewing of X inactivation. Lysosomal deposits of ceramide trihexoside have been repeatedly documented in a wide range of tissues, including those found in angiokeratoma, the characteristic cutaneous lesion which allowed the definition of Fabry disease. The aim of this study was to investigate whether there was any difference in the amount of dermal lysosomal storage in males and females, thus accounting for the difference in clinical severity of both groups. For that purpose, with electron microscopy and quantitative methods, we studied the extent of lysosomal deposits in dermal fibroblasts of normal-appearing skin in six females and nine men, enzymatically and genetically proven as to have Fabry disease, and results were compared. Our results indicate a statistically significant difference between the two groups regarding both the percentage of dermal fibroblasts bearing stored material, and the storage surface occupied in 100 fibroblasts per case. We suggest that periodical ultrastructural examination of normal-appearing skin could be an indicator of the efficacy of enzyme replacement therapy and could help to evaluate results. PMID:16463201

  7. Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

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    Sakuraba, Hitoshi; Matsuzawa, Fumiko; Aikawa, Sei-ichi; Doi, Hirofumi; Kotani, Masaharu; Nakada, Hiroshi; Fukushige, Tomoko; Kanzaki, Tamotsu

    2004-01-01

    Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency (Schindler/Kanzaki disease) is a clinically and pathologically heterogeneous genetic disease with a wide spectrum including an early onset neuroaxonal dystrophy (Schindler disease) and late onset angiokeratoma corporis diffusum (Kanzaki disease). In alpha-NAGA deficiency, there are discrepancies between the genotype and phenotype, and also between urinary excretion products (sialyl glycoconjugates) and a theoretical accumulated material (Tn-antigen; Gal NAcalpha1-O-Ser/Thr) resulting from a defect in alpha-NAGA. As for the former issue, previously reported genetic, biochemical and pathological data raise the question whether or not E325K mutation found in Schindler disease patients really leads to the severe phenotype of alpha-NAGA deficiency. The latter issue leads to the question of whether alpha-NAGA deficiency is associated with the basic pathogenesis of this disease. To clarify the pathogenesis of this disease, we performed structural and immunocytochemical studies. The structure of human alpha-NAGA deduced on homology modeling is composed of two domains, domain I, including the active site, and domain II. R329W/Q, identified in patients with Kanzaki disease have been deduced to cause drastic changes at the interface between domains I and II. The structural change caused by E325K found in patients with Schindler disease is localized on the N-terminal side of the tenth beta-strand in domain II and is smaller than those caused by R329W/Q. Immunocytochemical analysis revealed that the main lysosomal accumulated material in cultured fibroblasts from patients with Kanzaki disease is Tn-antigen. These data suggest that a prototype of alpha-NAGA deficiency in Kanzaki disease and factors other than the defect of alpha-NAGA may contribute to severe neurological disorders, and Kanzaki disease is thought to be caused by a single enzyme deficiency. PMID:14685826

  8. 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