Giustini S, Amorosi B, Canci C, Camplone G, Bottoni U, Porciello R, Calvieri S
Università La Sapienza , Istituto di Clinica Dermatologica, Viale del Policlinico 155, 00161-Roma, Italia.
Eur J Dermatol. 1998 Apr-May;8(3):158-60.
Pachyonychia congenita is a rare syndrome in which the main and most common clinical sign is onychodystrophy of all finger and toe nails. The most frequent type of transmission seems to be autosomal dominant, but recessive forms have also been described. Typical onychodystrophy can be associated with other clinical manifestations. The most recent literature refers to descriptions of about 250 cases up until 1993. Numerous classifications of pachyonychia congenita have been suggested by several authors over the years. We report two cases of pachyonychia congenita in association with steatocystoma multiplex in a mother and son.
先天性厚甲症是一种罕见的综合征，其主要且最常见的临床体征是所有手指甲和脚趾甲的甲营养不良。最常见的遗传方式似乎是常染色体显性遗传，但也有隐性遗传形式的描述。典型的甲营养不良可能与其他临床表现相关。最新文献表明，截至1993年约有250例相关病例描述。多年来，多位作者提出了多种先天性厚甲症的分类方法。我们报告了一对母子患先天性厚甲症合并多发性皮脂囊肿的两个病例。
