RESUMO
La hipertricosis cervical anterior no sindrómica (OMIM N° 600457) es un desorden genético caracterizado por un parche de pelo a nivel de la prominencia laríngea. Se presenta a un niño de 12 años de edad con hipertricosis cervical anterior e hipertricosis generalizada leve, sin alteraciones neurológicas, oftalmológicas ni esqueléticas, en seguimiento clínico por un lapso de 10 años.
The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years.
Assuntos
Humanos , Masculino , Criança , Faringe/anormalidades , Colo do Útero/anormalidades , Hipertricose/diagnóstico , Fatores de Tempo , SeguimentosRESUMO
Anterior cervical hypertrichosis (ACH) refers to a patch of hair that is presented at the lower anterior aspect of the neck just above the sternal notch along the cervical midline. The condition occurs as an isolated defect or in association with other abnormalities. Eighteen out of the 28 ACH patients who were previously reported on in the English literature showed a familial inheritance pattern. Some of the reported cases were associated with other clinical symptoms such as peripheral sensory and motor neuropathy, developmental delay, retinal change and bony abnormality. Herein, we report on a case of 2 sisters and 1 brother who had familial anterior cervical hypertrichosis without any other abnormality.