A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature

A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature

Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. And fissured tongue is rarely reported in patients with pachyonychia congenita. The disease is primarily associated...

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Bibliographic Details
Main Authors: Jiali Liang, Ronghua Li, Chenmei Liu, Yan Cai, Yifei Liu, Pingjiao Chen, Kang Zeng, Changxing Li
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
Pachyonychia congenita
Fissured tongue
Keratin
KRT6A
Genodermatosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024032262

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http://www.sciencedirect.com/science/article/pii/S2405844024032262

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