Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

J Invest Dermatol. 2016 May;136(5):1060-1062. doi: 10.1016/j.jid.2016.01.015. Epub 2016 Jan 29.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Hair Diseases / congenital*
  • Hair Diseases / diagnosis
  • Hair Diseases / genetics
  • Humans
  • Magnetic Resonance Imaging / methods
  • Malformations of Cortical Development / diagnostic imaging
  • Malformations of Cortical Development / genetics*
  • Mutation*
  • Nevus, Pigmented / diagnosis
  • Nevus, Pigmented / genetics*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics*

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf

Supplementary concepts

  • Phacomatosis pigmentokeratotica
  • Woolly hair, congenital