Two families with Greither's syndrome caused by a keratin 1 mutation.
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.
Gach
Joanna E
JE
Department of Dermatology, Birmingham Children's Hospital, Birmingham, United Kingdom. asia@jgach.freeserve.co.uk
Munro
Colin S
CS
Lane
E Birgitte
EB
Wilson
Neil J
NJ
Moss
Celia
C
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
C491616:KRT1 protein, human; D053556:Keratin-1; D007633:Keratins