Article
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
The Journal of investigative dermatology - 1 Oct 1997
Korge B P, Ishida-Yamamoto A, Pünter C, Dopping-Hepenstal P J, Iizuka H, Stephenson A, Eady R A, Munro C S
Abstract excerpt
A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel's keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature. We have studied two further families with Vohwinkel's keratoderma for evidence ofloricrin mutations. Our first family (VK1) also had ichthyosis but not deafness. In lesional and nonlesional...
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