Haber R M, Rose T H
Arch Dermatol. 1986 Aug;122(8):919-23.
We report the second and third cases of pachyonychia congenita inherited as an autosomal recessive disorder. Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. The clinical features and inheritance of pachyonychia congenita, as well as the reasons for the long delay in diagnosis of our cases, are discussed.
我们报告了第二例和第三例作为常染色体隐性疾病遗传的先天性厚甲症病例。我们的病例不同寻常，指甲呈现出明显的白甲，临床外观如同泰瑞氏指甲。这些患者最初因终生水疱性疾病史被诊断为单纯性大疱性表皮松解症。本文讨论了先天性厚甲症的临床特征、遗传方式以及我们病例诊断长期延迟的原因。
