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Anhidrotic Ectodermal Dysplasia


X-linked recessive disorder characterized by partial or complete absence of sweat glands, hypotrichosis and hypodontia. The patients present with craniofacial dysmorphy (frontal bossing, proeminent supraorbital ridges, abnormal ears). The scalp hair is sparse, dry, fine and usually remains short. Alopecia is seldom total. The nails are abnormal in about half the cases and may be brittle, thin or ridged. The teeth may be entirely absent, or there may be a few teeth present. The incisors are characteristically conical and pointed. Absent or reduced sweating causes heat intolerance. Affected individuals may present with unexplained fever in infancy or childhood.




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