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March 1988

Variable Expression in Focal Dermal Hypoplasia: An Example of Differential X-Chromosome Inactivation

Author Affiliations

From the Department of Pediatrics (Drs Wechsler and Marion) and the Department of Medicine, Division of Dermatology (Dr Haberman), Albert Einstein College of Medicine, Bronx, NY; and the Department of Medicine, Division of Dermatology, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, New Brunswick (Dr Papa). Dr Marion is a Lewis J. Fraad fellow in Child Health.

Am J Dis Child. 1988;142(3):297-300. doi:10.1001/archpedi.1988.02150030067022

• We encountered three women from three generations of the same family with features of focal dermal hypoplasia (FDH). Two of the patients, the proposita and her mother, demonstrated severe manifestations, including skin, dental, skeletal, and visceral abnormalities. The proposita's grandmother, the first family member affected, had very mild expression, with aplasia cutis congenita and dental caries as the only features expressed. This family illustrates both the marked variability of expression and the proposed X-linked dominant mode of inheritance of FDH. We postulate that early embryologic random inactivation of the X chromosome bearing the mutant gene responsible for FDH is the cause of the variable expression.

(AJDC 1988;142:297-300)

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