RESUMO
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.
Assuntos
Pré-Escolar , Humanos , Masculino , Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutação de Sentido Incorreto/genética , Displasia Ectodérmica Anidrótica Tipo 1/patologiaAssuntos
Carcinoma Basocelular/patologia , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias Cutâneas/patologia , Idoso , Carcinoma Basocelular/diagnóstico por imagem , Carcinoma Basocelular/cirurgia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Invasividade Neoplásica , Radiografia , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/cirurgiaRESUMO
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.