Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets

Skinmed. 2013 Mar-Apr;11(2):125-8.

Abstract

The epidermal naevus syndrome (ENS) is a sporadic condition characterized by congenital epidermal naevi associated with anomalies in other organ systems, most commonly the central nervous system and skeleton. We report a case of ENS presenting hypophosphataemic rickets resistant to traditional therapeutic agents.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Drug Resistance
  • Familial Hypophosphatemic Rickets / diagnosis*
  • Familial Hypophosphatemic Rickets / drug therapy
  • Familial Hypophosphatemic Rickets / physiopathology
  • Female
  • Follow-Up Studies
  • Humans
  • Nevus, Pigmented / diagnosis*
  • Nevus, Pigmented / physiopathology
  • Nevus, Sebaceous of Jadassohn / diagnosis*
  • Nevus, Sebaceous of Jadassohn / physiopathology
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / physiopathology

Supplementary concepts

  • Phacomatosis pigmentokeratotica