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pachyonychia congenita

 

Definition: a syndrome of ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis; the tongue is whitish and glazed owing to papillary atrophy; autosomal dominant inheritance caused by mutation in the keratin 16 gene (KRT16) on chromosome 17q or the keratin 6A gene (KRT6A) on 12q.

Synonym(s): Jadassohn-Lewandowski syndrome

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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