Pachyonychia congenita

Report of two cases and mutation analysis

Jia Ming Yeh, Ching Yuang Huang, Sheau-Chiou Chao

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)93-96
Number of pages4
JournalDermatologica Sinica
Volume30
Issue number3
DOIs
Publication statusPublished - 2012 Sep 1

Fingerprint

Pachyonychia Congenita
Mutation
Oral Leukoplakia
Ectodermal Dysplasia
Keratosis
Inborn Genetic Diseases
Nails
Point Mutation
Terminology
Genes
Molecular Biology
Differential Diagnosis

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Yeh, Jia Ming ; Huang, Ching Yuang ; Chao, Sheau-Chiou. / Pachyonychia congenita : Report of two cases and mutation analysis. In: Dermatologica Sinica. 2012 ; Vol. 30, No. 3. pp. 93-96.
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Pachyonychia congenita : Report of two cases and mutation analysis. / Yeh, Jia Ming; Huang, Ching Yuang; Chao, Sheau-Chiou.

In: Dermatologica Sinica, Vol. 30, No. 3, 01.09.2012, p. 93-96.

Research output: Contribution to journalArticle

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