CONRADI-HUNERMANN SYNDROME

By Gary M. White, MD


Conradi-Hunermann Syndrome (CHS) is an X-linked dominant disorder characterized by chondrodysplasia puntata, ichthyosiform erythroderma, limb skeletal defects and cataracts.

Clinical

There is neonatal erythroderma and yellow keratotic plaques in swirls along lines of Blaschko. They begin to disappear in the first few months of live, leaving follicular atrophoderma, hypochromic areas and scalp alopecia. Also present are chondrodysplasia punctata, skeletal defects, and cataracts. There may be persistent psoriasiform lesions in intertriginous areas (ptychotropism). Massive dilated ostial hyperkeratosis of the hair follicle with keratin calcium deposits is a characteristic histologic finding early on.

Skeletal Defects

Treatment

The cutaneous lesions tent to resolve after infancy, leaving alopecia and follicular atrophoderma [AD 1994;130;325].

References

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. Dermatology Online Journal 16 (11)

Small pigmented scales with a linear blaschkoid pattern as well as subtle atrophoderma of the dorsum of the hands. BJD 2015;173;1316–1318

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