Hypohidrotic Ectodermal Dysplasia / 대한피부과학회지

ABSTRACT

Congenital hypohidrotic ectodermal dysplasia is a rare genodermatosis. It is characterized by hypohidrosis hypotrichosis, dental hypoplasia and characterstic facial features, which reflect a wide constellation of developmental defec of tissue from the ectoderm. We have encountered three cases of congenital hypohidrotic ectodermal dysplasia in a 28-year-old female, her new-born baby, and a 10-month-old boy with a family history. All of the three patients had hypohidrosis, hypotrichosis, defective dentition, and characterstic facial features, which were characterstic features of this disorder. In addition, they showed dry skin, sparse and thin hairs. Histopathologic findings of previous cases revealed no eccrine gland structure in the dermis with routine and immunohistochemical stainning such cytokeratin and filaggrin. We report three typical cases of hypohidrotic ectodermal dysplasia with the review of literature.