Encephalocraniocutaneous lipomatosis: an uncommon neurocutaneous syndrome

J Am Acad Dermatol. 1995 Feb;32(2 Pt 2):387-9. doi: 10.1016/0190-9622(95)90411-5.

Abstract

We describe a 2 1/2-year-old girl with encephalocraniocutaneous lipomatosis. The dysmorphologic manifestations in the skull, brain, skin, and eyes associated with a normal karyotype suggested the diagnosis of this rare neurocutaneous syndrome.

Publication types

  • Case Reports

MeSH terms

  • Alopecia / pathology
  • Bone Diseases / pathology
  • Brain Diseases / pathology*
  • Child, Preschool
  • Eyelid Diseases / pathology
  • Facial Asymmetry / pathology
  • Female
  • Humans
  • Lipomatosis / pathology*
  • Scalp Dermatoses / pathology
  • Skin Diseases / pathology*
  • Skull / pathology*
  • Syndrome