Multiple verruciform xanthomas in the setting of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome

Pediatr Dermatol. 2015 Jan-Feb;32(1):135-7. doi: 10.1111/pde.12198. Epub 2013 Oct 22.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Child
  • Comorbidity
  • Female
  • Genetic Diseases, X-Linked / pathology*
  • Humans
  • Ichthyosiform Erythroderma, Congenital / pathology*
  • Limb Deformities, Congenital / pathology*
  • Warts / pathology*
  • Xanthomatosis / pathology*

Supplementary concepts

  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects