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Giornale Italiano di Dermatologia e Venereologia 2002 June;137(3):205-9

Copyright © 2002 EDIZIONI MINERVA MEDICA

language: English

Angiokeratoma corporis diffusum (Anderson-Fabry’s disease). Delayed diagnosis of Anderson-Fabry’s disease

Ingordo V. 1, Chironi M. 2, Sarandria C. 2, Tortello Cannata A. 3, Catapano Minotti G. 4, Sebastio A. M. 2

1 Main Italian Navy Hospital “M.O.G. Venticinque” Department of Dermatology 2 Service of Anatomical and Histological Pathology “S.S. Annunziata Hospital”, Taranto 3 Service of Ophthalmology 4 Service of Cardiology, Taranto


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Angiokeratoma corporis diffusum (ACD), also known as Anderson-Fabry’s disease, results from the deficiency of enzyme a-galactosidase A in several tissues. This defect is transmitted as an X-linked recessive disorder. The result is systemic deposition of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3, also known as ceramidetrihexoside) in plasma and tissues. Cutis, eye, heart, kidney, central nervous system and autonomic nervous system are mostly involved. A 19-year-old male with many small angiokeratomas on thighs, abdomen, lumbar area and genitalia was admitted to the Italian Navy Hospital in Taranto. He had dilated conjunctival vessels with small aneurysms, “cornea verticillata” and posterior spoke-like cataract. Echocardiographic evidences of dilated myocardiopathy were present. Proteinuria was absent. The urinary sediment contained birefringent fat-laden cells. On histologic examination of a skin lesion, telangiectatic vascular abnormalities in papillar derma were observed. The endothelial cells showed vacuolizations due to lipid accumulation. On electronic microscopy, in endothelial cells, smooth muscle cells of blood vessels and macrophages electron-dense lamellar bodies were observed. Skin lesions were present as early as the childhood but diagnosis was unfortunately delayed until systemic involvement was present, because the patient had no subjective symptoms and never referred to a dermatologist. This clinical case underline the importance of the early dermatologic diagnosis in ACD, before systemic involvement appears. Indeed new therapeutical attempts, mainly enzyme replacement therapy, that are reviewed in this work, are now possible.

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