pachyonychia congenita type 1 (Jadassohn-Lewandowsky syndrome)

Pathology

• ectodermal dysplasia

Genetics

• autosomal dominant
• associated with defects in KRT6A, KRT16

Clinical manifestations

• hypertrophic nail dystrophy resulting in onchyogryposis (thickening & increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, & oral leukokeratosis
• hyperhidrosis of the hands & feet is usually present

More general terms

• pachyonychia congenita

Database

• OMIM: https://mirror.omim.org/entry/167200