title: Two families with Greither's syndrome caused by a keratin 1 mutation.
abstract: Transgrediens et progrediens palmoplantar keratoderma, known as Greither's syndrome, was originally described in 1952 and is characterized by diffuse keratoderma of the palms and soles, extending to the back aspects (transgrediens) and involving the skin over the Achilles' tendon. Patchy hyperkeratosis also develops on the shins, knees, elbows, and sometimes on the skin flexures. We describe two unrelated families affected with Greither's syndrome, in which the same dominant missense mutation gave rise to the amino acid change N188S in K1. The previously reported cases of Greither's syndrome showed phenotypic variability suggestive of different underlying gene defects. Our findings suggest that at least some cases of Greither's syndrome are caused by keratin mutations.
authors.affiliation: Department of Dermatology, Birmingham Children's Hospital, Birmingham, United Kingdom. asia@jgach.freeserve.co.uk
authors.forename: Joanna E
authors.initials: JE
authors.lastname: Gach
authors.forename: Colin S
authors.initials: CS
authors.lastname: Munro
authors.forename: E Birgitte
authors.initials: EB
authors.lastname: Lane
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Wilson
authors.forename: Celia
authors.initials: C
authors.lastname: Moss
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D007223:Infant; D053556:Keratin-1; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome
chemical_list: C491616:KRT1 protein, human; D053556:Keratin-1; D007633:Keratins