Article
A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.
The Journal of dermatology - 1 Dec 2002
Tsunemi Yuichiro, Hattori Naoko, Saeki Hidehisa, Adachi Makoto, Komine Mayumi, Nakagawa Hidemi, Tamaki Kunihiko
Abstract excerpt
We described a 5-year-old Japanese girl with epidermolytic palmoplantar keratoderma and examined her for a keratin 9 gene mutation. Physical examination disclosed diffuse yellowish hyperkeratosis with an erythematous border limited strictly to the palms and soles. Histological examination revealed hyperkeratosis with vacuolar degeneration in the spinous and granular layers of the epidermis. Sequence analysis...
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