Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X / Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia
Rev. méd. Chile
; 139(12): 1601-1604, dic. 2011. ilus
Article
em Es
| LILACS
| ID: lil-627596
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CL1.1
ABSTRACT
Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmenta-tion, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
Palavras-chave
Texto completo:
1
Índice:
LILACS
Assunto principal:
Mutação de Sentido Incorreto
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Displasia Ectodérmica Anidrótica Tipo 1
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Ectodisplasinas
Limite:
Child, preschool
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Humans
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Male
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2011
Tipo de documento:
Article