CHILD syndrome with linear eruptions, hypopigmented bands, and verruciform xanthoma

A Colombian girl was born with linear verrucous lesions of the right forearm and fingers, hypopigmented bands and streaks on the right arm, verrucous plaques on the right labium majus which extended to the right upper inner thigh, a crooked right tibia, nasal septum deviation to the right, lumbar kyphoscoliosis to the right, and other right-sided abnormalities. Radiographs showed stippled calcification of the tibial epiphysis, hypoplasia of the calcaneus, and astragalus of the right foot and delta phalanges of the right ring finger. Histologic examination demonstrated hyperkeratosis with ortho- and parakeratosis of the acanthotic epidermis. Keratinocytes in the lower epidermis and connective tissue cells, Schwann cells, and capillary endothelial cells of the papillary dermis showed marked vacuolization, a picture compatible with verruciform xanthoma. Electron microscopy revealed lipid vacuoles with lamellar contents and occasional crystals, compatible with cholesterol, in the dermal cells. Other abnormalities included a large number of vesicles and vacuoles in the upper epidermal keratinocytes and a lack of typical cementsomes; the vesicles and vacuoles were thought to represent abnormal cementsomes (lamellar granules).