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Concurrent Hypohidrotic Ectodermal Dysplasia and X-Linked Ichthyosis

Nancy B. Esterly, MD; Hermine M. Pashayan, MD; Carole E. West, MD
Am J Dis Child. 1973;126(4):539-543. doi:10.1001/archpedi.1973.02110190435017.
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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.


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