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Raymond Allen Osbourn, M.D.
JAMA. 1952;148(8):644-645. doi:10.1001/jama.1952.62930080006013c.
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Congenital ectodermal defect is a rare syndrome characterized by hypotrichosis, absence of sweat glands, absence of sebaceous glands, adontia or hypodontia, a characteristic facies, and, occasionally, absence of the mammary glands. About 80 such cases have been reported, but only 4 of these (all male) have had absence of the breasts and nipples.1 The purpose of this report is to record a case of this variety.

A brief consideration of the clinical appearance of patients with ectodermal defect (Fig. 1) reveals a great similarity in their appearance. The skin is thin, dry, and glossy, and the facies is somewhat suggestive of congenital syphilis. Frontal bossing is prominent, the supraorbital ridges are high and wide, the nasal bridge de pressed, the lips thick and protruding, the teeth absent or deficient, and the nails normal or dystrophic.

Cases have been reported of absence of mammary glands, chiefly in females, unassociated with


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