Pachyonychia congenita: Report of two cases and mutation analysis

Jia Ming Yeh, Ching Yuang Huang, Sheau Chiou Chao

研究成果: Article同行評審

1 引文 斯高帕斯(Scopus)


Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders that involve ectodermal dysplasia. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratoses, and oral leukokeratosis. Historically, PC has been subdivided into two subtypes, PC-1 or PC-2, on the basis of clinical presentation. However, differential diagnosis based on clinical grounds, especially in young and/or not fully penetrant patients, can be difficult. In addition, clinical analysis of the large case series has shown that there is considerable phenotypic overlap between these two subtypes recently. Based on the advent of molecular genetics and the identification of the genes causing PC, more specific nomenclature has been adopted. Therefore, diagnosis at the molecular level is useful and important to confirm the clinical impression. In this report, we describe two typical cases of PC with mutation analysis revealed a small deletion (514-516delACC, Asn172del) and a point mutation (487 G > A, GAG → AAG, Glu163Lys) in the KRT6A gene.

頁(從 - 到)93-96
期刊Dermatologica Sinica
出版狀態Published - 2012 九月

All Science Journal Classification (ASJC) codes

  • 皮膚科


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