Document Detail

Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report.
MedLine Citation:
PMID:  10972099     Owner:  NLM     Status:  MEDLINE    
We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. Histopathological examination of one of the cutaneous papules showed several dilated blood vessels in the superficial dermis surrounded by collarettes of thickened rete ridges, consistent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with deposition of electron-dense bodies, some of which with laminated structure, in endothelial cells and fibroblasts. These findings were regarded as indicative of Fabry's disease. Subsequent biochemical analysis confirmed the presence of a alpha-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of Fabry's disease, in which the combination of electron microscopic and biochemical approaches allowed the correct diagnosis.
D Massi; F Martinelli; M L Battini; C E Comin; A Franchi; O Gioia; M Santucci
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the European Academy of Dermatology and Venereology : JEADV     Volume:  14     ISSN:  0926-9959     ISO Abbreviation:  J Eur Acad Dermatol Venereol     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-12-11     Completed Date:  2000-12-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9216037     Medline TA:  J Eur Acad Dermatol Venereol     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  127-30     Citation Subset:  IM    
Dipartimento di Patologia Umana ed Oncologia, Università di Firenze, Italy.
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MeSH Terms
Cornea / pathology
Fabry Disease* / diagnosis,  pathology
Skin / pathology,  ultrastructure

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