Verruciform xanthoma: a special epidermal nevus.

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked hereditary disorder. Presentation varies from ichthyosiform nevus to complete limb amelia. We present a 17-year-old adolescent girl who presented with a 16-cm exophytic mass of the right foot that had been growing for 7 years as well as knee contracture. Deformed nails with onychorrhexis were noted bilaterally. History of multiple nonlinear erythematous skin lesions covered by dry waxy scales involving multiple body folds with sharp midline demarcation was obtained. The patient's family history was negative for consanguinity and similar conditions. Radiography showed right leg hypoplasia and osteopenia. These findings fulfill the diagnosis of CHILD syndrome. Microscopically, psoriasiform epidermal hyperplasia with marked orthohyper-keratosis and neutrophilic exocytosis were noted. The papillary dermis was packed with foamy macrophages consistent with xanthomatous changes, namely verruciform xanthoma. Verruciform xanthoma, although rarely found in other conditions, is a characteristic finding.

Abnormal lamellar granules in a case of CHILD syndrome.

BACKGROUND: A 32-year-old female had cutaneous and musculoskeletal changes consistent with congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. She was born with the dysplastic, shortened right-sided arm and leg. Erythematous, hyperkeratotic lesion occurred on the trunk initially and extended to the right-sided arm and leg. Almost all area of her right-side body except the head and neck was covered by the erythematous lesion with yellow waxy scales, and the distal end of the rudimentary leg showed a verrucous appearance. METHODS AND RESULTS: The histology shared many features with verruciform xanthoma. Electron microscopy revealed vesicular structures in the intercellular spaces of the stratum corneum and vacuoles or vesicular structures in upper prickle cell layer. Some of them can be recognized as abnormal lamellar granules. Within the foamy cells in the papillary dermis, large vacuoles were found. CONCLUSION: These findings suggested that abnormal lipid metabolism involving lamellar granules may be responsible to the skin lesion of CHILD syndrome.

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).