Angiokeratoma corporis diffusum (Anderson-Fabry's disease): A case report

Journal of the European Academy of Dermatology and Venereology

Volumn 14, Issue 2, 2000, Pages 127-130

  Massi, Daniela ^a   Martinelli, Fabrizio ^a   Luisa Battini, Maria ^a   Eva Comin, Camilla ^a   Franchi, Alessandro ^a   Gioia, Olga ^a   Santucci, Marco ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Anderson Fabry's diasese; Angiokeratoma corporis diffusum; Electron microscopy

Indexed keywords

ALPHA GALACTOSIDASE;

ABDOMEN; ADOLESCENT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CONJUNCTIVA; CONTROLLED STUDY; CORNEA OPACITY; CORNEA VERTICILLATA; DERMIS; DIAGNOSTIC ACCURACY; ELECTRON MICROSCOPY; ENDOTHELIUM CELL; FABRY DISEASE; FEVER; FIBROBLAST; HEMANGIOKERATOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY FUNCTION; LEUKOCYTE; LYSOSOME; MALE; PAIN; PAPULE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN BIOPSY; UMBILICUS; VASODILATATION; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; CORNEA; FABRY DISEASE; HUMANS; MALE; SKIN;

EID: 0034427078     PISSN: 09269959     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-3083.2000.00030.x     Document Type: Article

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5. Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal α-N-acetylgalactosaminidase activity
6. Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease
7. Widespread angiokeratomas and tuberous sclerosis
8. Angiokeratoma corporis diffusum in a patient with normal enzyme activities
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10. Fabry's disease: Heterozygous form of different expression in two monozygous twin sisters
11. Fabry's disease: Six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene