Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome

Am J Med Genet A. 2005 Apr 30;134(3):233-6. doi: 10.1002/ajmg.a.30599.

Abstract

We report on an adolescent who experienced the onset of linear nevus sebaceous syndrome (LNSS) prior to 1 year of age. At 7 years of age he was diagnosed to have hypophosphatemic rickets. He was suboptimally controlled with phosphate and calcitriol treatment and sustained numerous insufficiency fractures ipsilateral to the linear sebaceous nevus. Fibroblast growth factor-23 (FGF-23), the phosphaturic peptide, was elevated in the plasma. Treamtent with the somatostatin agonist, octreotide, and excision of the nevus were followed by normalization of FGF-23 and clinical improvement. The patient also had hyperimmunoglobulinemia E, which responded to octreotide and surgery. We speculate that in some patients with LNSS there may be more than one mediator of hypophosphatemia and that FGF-23 is the mediator of hyperphosphaturia in this and other hypophosphatemic syndromes.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antineoplastic Agents, Hormonal / therapeutic use
  • Calcitriol / therapeutic use
  • Fibroblast Growth Factor-23
  • Fibroblast Growth Factors / blood*
  • Humans
  • Hypophosphatemia / blood*
  • Male
  • Nevus, Pigmented / blood*
  • Nevus, Pigmented / drug therapy
  • Nevus, Pigmented / surgery
  • Octreotide / therapeutic use
  • Phosphates / therapeutic use
  • Sebaceous Gland Neoplasms / blood*
  • Sebaceous Gland Neoplasms / drug therapy
  • Sebaceous Gland Neoplasms / surgery
  • Syndrome
  • Treatment Outcome

Substances

  • Antineoplastic Agents, Hormonal
  • FGF23 protein, human
  • Phosphates
  • Fibroblast Growth Factors
  • Fibroblast Growth Factor-23
  • Calcitriol
  • Octreotide