Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl

J Am Acad Dermatol. 2010 Aug;63(2):323-8. doi: 10.1016/j.jaad.2010.03.041.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Amino Acid Substitution
  • Brain / pathology
  • Child, Preschool
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology
  • Female
  • Hair Diseases / genetics
  • Hair Diseases / pathology
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Ichthyosiform Erythroderma, Congenital / pathology*
  • Magnetic Resonance Imaging
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology
  • Photosensitivity Disorders / genetics
  • Photosensitivity Disorders / pathology
  • Trichothiodystrophy Syndromes / genetics
  • Trichothiodystrophy Syndromes / pathology*
  • Xeroderma Pigmentosum Group D Protein / genetics

Substances

  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human