Muhlbauer J E, Pathak M A, Tishler P V, Fitzpatrick T B
JAMA. 1982 Jun 11;247(22):3095-102.
Variegate porphyria (VP) is an autosomal dominant disease characterized in adults by mechanical fragility and blistering of sun-exposed skin or acute visceral and neurological manifestations. The laboratory diagnosis of VP depends on a search for high levels of coproporphyrin and protoporphyrin in the feces. Variegate porphyria has been infrequently diagnosed in the United States. In this study of five New England families with VP, there were nine manifest, six latent, and six questionable cases among 40 individuals studied. This report reviews the diagnostic approach to and treatment of affected individuals and their families.
迟发性皮肤卟啉症（VP）是一种常染色体显性疾病，在成年人中表现为暴露于阳光下的皮肤机械性脆弱和水疱形成，或急性内脏和神经症状。VP的实验室诊断依赖于检测粪便中高水平的粪卟啉和原卟啉。迟发性皮肤卟啉症在美国很少被诊断出来。在这项对五个患有VP的新英格兰家庭的研究中，在研究的40个人中，有9例显性病例、6例潜伏病例和6例可疑病例。本报告回顾了受影响个体及其家庭的诊断方法和治疗。
