pachyonychia congenita

Classification

• pachyonychia congenita type 1
• pachyonychia congenita type 2

Genetics

• autosomal dominant
• associated with defects in KRT6A, KRT6B

Clinical manifestations

• thickening of the nails
• hyperkeratosis on hands & feet
• oral lesions that look like thick white plaques

More general terms

• genetic disease of the skin (genodermatosis)

More specific terms

• pachyonychia congenita type 1 (Jadassohn-Lewandowsky syndrome)
• pachyonychia congenita type 2 (Jackson-Lawler type)