[Anderson-Fabry disease (angiokeratoma corporis diffusum)].
A 49-year-old man with angiokeratoma corporis diffusum is reported. Dermatological, ophthalmological or renal abnormalities have so far been found in 14 of the relatives of the patient. The typical dermal signs of the patient appeared on the distal part of the trunk at the age of 5-6 years, and swelling of the left leg occurred in adulthood. Besides the bicuspidal insufficiency, examination revealed ophthalmological symptoms, signs of renal damage, and the alpha-galactosidase activity deficiency of the leucocytes.
D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D013902:Radiography, Thoracic; D012867:Skin / Q000473:pathology
Morbus Anderson-Fabry (Angiokeratoma corporis diffusum).