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.

Diseases presenting "limb defects" symptom

  • child syndrome
  • holt-oram syndrome
  • kallmann syndrome
  • proteus syndrome

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