Angiokeratoma corporis diffusum--a case report.
نویسندگان
چکیده
Angiokeratoma corporis diffusum, a rare clinical type of angiokeratoma, reported in association with various diseases of which Fabry disease is most common. Fabry disease, an X-linked recessive inborn error of glycosphingolipid metabolism due to deficiency of lysosomal enzyme αgalactosidase A . Clinically the disease is characterized by acroparesthesias, multiple cherry red coloured raised angiomatous hyperkeratotic lesions over trunk, abdomen, sides of buttocks and genitilia. A 27-year-old male born to a consanguineous marriage presents with acroparaesthesias and multiple cherry red and hyperkeratotic lesions over trunk, abdomen, sides of buttocks and genitilia. Histopathological examination is consistent with angiokeratoma and our case was diagnosed as angiokeratoma corporis diffusum. This case is being reported because of its rarity.
منابع مشابه
Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities.
BACKGROUND Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations. OBSERVATIONS We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency. A review of the literature r...
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The clinical features, diagnosis management, aetiology and inheritance of angiokeratoma corporis diffusum (Fabry's disease) are discussed and the literature reviewed. The treatment and knowledge generally of this rare condition have not greatly improved in 75 years.
متن کاملAngiokeratoma corporis diffusum with features of a mucopolysaccharidosis.
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.
متن کاملA rare clinic type of angiokeratoma: angiokeratoma circumscriptum naeviforme
Angiokeratomas are verrucous, hyperkeratotic, red-black, well-demarcated papules and plaques consisting of vascular enlargement and hyperkeratosis [1]. Five different clinical variants of angiokeratoma have been identifined including angiokeratoma corporis diffusum (Fabry’s disease), angiokeratoma Mibelli, angiokeratoma Fordyce, angiokeratoma circumscriptum, solitary and multiple angiokeratomas...
متن کاملLysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.
Recently a novel case of angiokeratoma corporis diffusum with glycoaminoaciduria was described in a 46-yr-old Japanese woman. Known causes of the cutaneous manifestation were eliminated by enzyme analyses, and further characterization of the accumulated urinary O-linked sialopeptides revealed identity to those excreted by patients with an infantile neuroaxonal dystrophy due to lysosomal alpha-N...
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ورودعنوان ژورنال:
- JAMA
دوره 175 شماره
صفحات -
تاریخ انتشار 1961