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October 1973

Concurrent Hypohidrotic Ectodermal Dysplasia and X-Linked Ichthyosis

Author Affiliations

From the departments of dermatology (Dr. Esterly) and pediatrics (Drs. Esterly and Pashayan); the Center for Genetics and the Center for Craniofacial Anomalies (Dr. Pashayan); and the Department of Ophthalmology (Dr. West), the Abraham Lincoln School of Medicine, University of Illinois, Chicago.

Am J Dis Child. 1973;126(4):539-543. doi:10.1001/archpedi.1973.02110190435017

A 5-year-old boy had two X-linked recessive disorders, hypohidrotic ectodermal dysplasia and X-linked ichthyosis. His mother and two older sisters were identified as heterozygotes although they appeared normal on physical examination. A decreased sweat pore count, frequently found in carriers of hypohidrotic ectodermal dysplasia, was demonstrated in all three individuals. Additionally, they had the deep corneal dystrophy of X-linked ichthyosis that has been observed not only in affected males but also in a high percentage of heterozygous females. Identification of the mother and sisters of the proband as heterozygotes enabled us to provide more effective genetic counseling for this family.