Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome

Pediatr Dermatol. 2020 May;37(3):541-544. doi: 10.1111/pde.14139. Epub 2020 Mar 10.

Abstract

We report the case of a child who presented with a giant melanocytic nevus with numerous satellite nevi at birth and developed hypophosphatemic rickets due to excessive secretion of the FGF23 hormone. A NRAS c.182A>G (Q61R) mutation was identified in the lesional skin. The functional outcome was favorable with medical treatment.

Keywords: fibroblast growth factor 23; hypophosphatemic rickets; multiple congenital melanocytic nevi.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Fibroblast Growth Factor-23
  • Humans
  • Infant, Newborn
  • Mutation
  • Nevus*
  • Nevus, Pigmented* / complications
  • Nevus, Pigmented* / genetics
  • Rickets, Hypophosphatemic* / complications
  • Rickets, Hypophosphatemic* / diagnosis
  • Rickets, Hypophosphatemic* / genetics
  • Skin Neoplasms*