Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Am J Med Genet A. 2023 Sep;191(9):2411-2415. doi: 10.1002/ajmg.a.63317. Epub 2023 Jun 14.

Abstract

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.

Keywords: Neurofibromatosis 1; ambiguous genitalia; case report; giant congenital melanocytic nevus; subpulmonic outlet ventricular septal defect.

Publication types

  • Review
  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Child
  • Disorders of Sex Development*
  • Heart Septal Defects, Ventricular*
  • Humans
  • Neurofibromatosis 1* / complications
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / genetics
  • Nevus, Pigmented* / congenital
  • Nevus, Pigmented* / diagnosis
  • Nevus, Pigmented* / genetics
  • Skin Neoplasms

Supplementary concepts

  • Melanocytic nevus syndrome, congenital