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Conradi-Hünermann-Happle syndrome

Hartman, R.D.; Molho-Pessach, V.; Schaffer, J.V.

Dermatology Online Journal 16(11): 4

2010

ISSN/ISBN: 1087-2108
PMID: 21163155
Document Number: 646262
A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hünermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata.

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