Article
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
The Journal of dermatology - 1 Mar 2002
Saeki Hidehisa, Hattori Naoko, Mitsui Hiroshi, Adachi Makoto, Imakado Sumihisa, Ishibashi Yasumasa, Tamaki Kunihiko
Abstract excerpt
We described a 19-year old Japanese female with bullous congenital ichthyosiform erythroderma (BCIE) and examined the keratin gene mutation. Physical examination disclosed generalized erythema, ichthyosiform skin with scales, and erosions without palmoplantar keratoderma. Histological examination revealed hyperkeratosis with vacuolar degeneration in the granular layer of the epidermis. Sequence analysis...
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