• | 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:
• | other palmoplantar keratodermas |
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