一名身材矮小且手部畸形女性的肝红细胞生成性卟啉病。
Hepatoerythropoietic porphyria in a woman with short stature and deformed hands.
作者信息
Fujimoto A, Brazil J L
机构信息
Genetics Division, LAC-USC Medical Center 90033.
出版信息
Am J Med Genet. 1992 Nov 1;44(4):496-9. doi: 10.1002/ajmg.1320440423.
PMID:1442894
Abstract
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.
摘要
一名来自洪都拉斯的23岁女性被诊断患有肝性红细胞生成性卟啉病。她有早发性光敏性皮肤、多毛症以及手部严重的硬皮病样病变。红细胞尿卟啉原脱羧酶活性降至正常活性的约10%。
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