Two families with Greither's syndrome caused by a keratin 1 mutation.
J Am Acad Dermatol
; 53(5 Suppl 1): S225-30, 2005 Nov.
Article
em En
| MEDLINE
| ID: mdl-16227096
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ceratodermia Palmar e Plantar
/
Mutação de Sentido Incorreto
/
Queratinas
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Am Acad Dermatol
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Reino Unido