LEOPARD syndrome with a new association of congenital corneal tumor, choristoma

Pediatr Dermatol. 2003 Mar-Apr;20(2):158-60. doi: 10.1046/j.1525-1470.2003.20214.x.

Abstract

A 5-year-old girl with a family history of LEOPARD syndrome had multiple lentigines on the face and trunk, hypertelorism, and growth retardation. In addition, she had congenital corneal tumors on both eyes. Histologically the tumors were choristoma. The neuroectodermal origin hypothesis of LEOPARD syndrome could explain the presence of a congenital corneal tumor in this patient. We suggest that corneal tumor may represent an unrecognized associated finding in this syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Biopsy, Needle
  • Child, Preschool
  • Choristoma / complications
  • Choristoma / pathology*
  • Cornea*
  • Eye Neoplasms / complications
  • Eye Neoplasms / pathology*
  • Female
  • Follow-Up Studies
  • Growth Disorders / complications
  • Growth Disorders / diagnosis
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / diagnosis
  • Humans
  • Hypertelorism / complications
  • Hypertelorism / diagnosis
  • Immunohistochemistry
  • Lentigo / complications
  • Lentigo / diagnosis
  • Neurofibromatosis 1 / diagnosis*
  • Pedigree
  • Syndrome