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Ectodermal dysplasia

Author(s): Amirian MH | Taherian AA

Journal: Iranian Journal of Pediatrics
ISSN 2008-2142

Volume: 2;
Issue: 5-6;
Start page: 83;
Date: 1986;
Original page

The reported case is a 21-month-old male. He was presented with following history and clinical manifestation: Absent sweating, unexplained fever since birth, absence of hair in the outer third of the eyebrow on both sides, dry, sparse and short scalp hair, saddle nose, large and low set ears, everted lips, only 2 upper conical incisors, soft and dry skin. Past and family history and clinical presentation strongly suggested ectodermal dysplasia, which was confirmed with skin biopsy. The main abnormality in ectodermal dysplasia affects skin, its appendages and teeth. It is characterized by a tried of hypohydrosis, hypotrichosis, and hypodontia. The absence of sweat glands causes disturbances of the thermo-regulating mechanism and many cases such as our patient have first presented with unexplained fever in infancy and childhood. Since calcification of a number of teeth can be visualized radiographically at birth, jaw X rays of infants can be most useful in establishing the diagnosis in infants, particularly those with FUO who are suspected of having an ectodermal defects. The inheritance of anhidrotic ectodermal dysplasia is usually determined by a sex linked recessive gene. The expectation of life is normal or only slightly reduced.

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