Abstract
Pachyonyehia congenita(PC) is a rare autosomal dominant keratin disorder characterized by hypertrophic nail dystrophy,focal palmoplantar keratoderma and oral leukokeratosis.It is clinically subdivided into two major variants,PC-1 and PC-2,wiui the involvement of nails,skin,oral mucosa,larynx,hair and teeth.It has been shown that PC-1 is caused by the mutations in keratin 6a and 16 genes,whereas those in keratin 6b and 17 genes lead to the development of PC-2.At present,PC is mainly managed by symptomatic treatment;gene therapy has become a hot spot of investigation,and progress has been made in the application of small interference RNA to the treatment of PC. Key words: Pachyonychia congenita; Heredity; Keratins; Mutation
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