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CASE REPORTS
JOURNAL ARTICLE
Ichthyosis with an unusual constellation of ectodermal dysplasias.
Clinical Genetics 1989 June
A unique disorder characterized by ichthyosis and defects of the appendages and teeth is reported. Scaly skin and absence of sweating were observed shortly after birth. During childhood there was progressive loss of hair, severe abnormalities of dentition and dystrophic changes of the nails following minor trauma. The patient experienced corneal ulceration, and examination of the eyes revealed a reduced number of meibomian glands and changes in the cornea consistent with previous ulcers. Dryness of the mucous membranes of the mouth was also observed. There is no previous report of an individual with this constellation of changes.
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