Hepatoerythropoietic porphyria in a woman with short stature and deformed hands.
A 23-year-old woman from Honduras was diagnosed to have hepatoerythropoietic porphyria. She had photosensitive skin of early onset, hypertrichosis, and severe scleroderma-like lesions of the hands. Erythrocyte uroporphyrinogen decarboxylase activity was reduced to about 10% of the normal activity.
Fujimoto
A
A
Genetics Division, LAC-USC Medical Center 90033.
Brazil
J L
JL
D000328:Adult; D001827:Body Height / Q000235:genetics*; D005260:Female; D006226:Hand Deformities / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D011164:Porphyrias / Q000150:complications / Q000235:genetics*; D011859:Radiography; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics
D014575:Uroporphyrinogen Decarboxylase