Pachyonychia congenita, type II.
A 5-year-old girl presented with extensor hyperkeratotic papules and subungual hyperkeratosis with nail-plate discoloration affecting all twenty nails. The mother reported that her daughter had natal teeth. By report, the father has a similar history and constellation of clinical findings. The patient's clinical presentation and history was consistent with pachyonychia congenita, which is a genodermatosis linked to mutations in the genes encoding keratins 6, 16, and 17.
Ronald O. Perelman Department of Dermatology, New York University, USA.
Bruce E
BE
Strober
D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007633:Keratins / Q000235:genetics; D007642:Keratosis / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009260:Nail Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology
D007633:Keratins