Rare Diseases Symptoms Automatic Extraction

Multiple Verruciform Xanthomas in the Setting of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome.

[child syndrome]

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disease characterized by peculiar cutaneous presentations and skeletal abnormalities. Verruciform xanthoma (VX)-like histologic changes occasionally occur in CHILD syndrome, but typical VX-like lesions coexisting with CHILD syndrome are rare. In this study we report a rare case of multiple, coexisting VXs on the vulva and left lower limb of an 11-year-old Chinese girl who also exhibited the typical clinical presentations and limb defects of CHILD syndrome. Histologic and immunohistochemical analyses showed that the lesions were typical VXs.