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European Journal of Dermatology

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Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness Volume 25, numéro 1, January-February 2015

Illustrations


  • Figure 1
Auteurs
1 Division of Dermatology,
2 Laboratory of Genetic Skin Diseases,
Niigata University Graduate School of Medical and Dental Sciences,
1-757 Asahimachi-dori, Chuo-ku,
Niigata 951-8510, Japan
3 Morishita Dermatology Clinic,
Nagaoka, Japan

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis on the palms and soles, which is largely classified into non-syndromic and syndromic forms. It is well-known that the syndromic form of PPK can be accompanied by deafness [1]. Most cases of PPK with deafness (OMIM 148350) show an autosomal dominant inheritance trait and are caused by mutations in GJB2 gene encoding a gap junction protein connexin 26 [1-3]. It has also been reported that patients with [...]