V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl

Pediatr Dermatol. 2007 Sep-Oct;24(5):551-4. doi: 10.1111/j.1525-1470.2007.00516.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, X
  • Codon, Nonsense
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology*
  • Ectodysplasins / genetics
  • Female
  • Frameshift Mutation
  • Humans
  • Hyperpigmentation / genetics
  • Hyperpigmentation / pathology
  • Hypohidrosis / genetics
  • Hypohidrosis / pathology
  • Hypotrichosis / genetics*
  • Hypotrichosis / pathology*
  • Mosaicism
  • Skin / pathology
  • Syndrome
  • Tooth Abnormalities / genetics*
  • Tooth Abnormalities / pathology*

Substances

  • Codon, Nonsense
  • EDA protein, human
  • Ectodysplasins