Article
Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
The British journal of dermatology - 1 Mar 2020
Goldberg I, Mashiah J, Kutz A, Derowe A, Warshauer E, Schwartz M E, Smith F, Sprecher E, Hansen C D
Abstract excerpt
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral...
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