A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.
J Am Acad Dermatol
; 51(3): 377-82, 2004 Sep.
Article
en En
| MEDLINE
| ID: mdl-15337980
We report the case of a congenitally deaf white male with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular occlusion triad. This unusual phenotype is associated with a novel heterozygous point mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein. Through Xenopus oocyte expression studies, this mutant protein was shown to significantly disrupt the function of the specialized gap junctions connecting the cytoplasm of adjacent cells critical for tissue homeostasis. Mutations within the connexin 26 protein are associated with syndromes involving both sensorineural deafness and hyperkeratotic skin disorders. This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mutación Puntual
/
Hidradenitis Supurativa
/
Conexinas
/
Mutación Missense
/
Foliculitis
/
Pérdida Auditiva Sensorineural
/
Ictiosis
/
Queratitis
/
Enfermedad de Darier
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
/
Animals
/
Humans
/
Male
Idioma:
En
Revista:
J Am Acad Dermatol
Año:
2004
Tipo del documento:
Article
País de afiliación:
Estados Unidos