By Disease Name > Pachyonychia Congenita

Pachyonychia Congenita

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rare genodermatosis, autosomal dominant
skin, nails, and oral mucosa oral leukokeratosis (NOT premalignant)
classified into four types with increasing clinical symptoms
nail changes with palmoplantar keratoderma
all 20 nails affected:  yellow-brown pincer nails show subungual hyperkeratosis and become progressively thicker

 

skin:

follicular keratosis on elbows and knees
palms and soles - keratoderma +/- frictional blisters

 

type I - keratins 6 and 16

type II - keratin 17;  clinically resembles type I with the addition of natal teeth and steatocystoma multiplex)

 

 

ddx:

dyskeratosis congenita
other palmoplantar keratodermas
psoriasis
onychomycosis
Weber-Cockayne syndrome