Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome.
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.
Hoffman
William H
WH
Department of Pediatrics, Pediatric Endocrinology, Medical College of Georgia, Augusta, GA 30912, USA. whoffman@mail.mcg.edu
Jueppner
Harald W
HW
Deyoung
Barry R
BR
O'dorisio
M Sue
MS
Given
Keena S
KS
D000293:Adolescent; D018931:Antineoplastic Agents, Hormonal / Q000627:therapeutic use; D002117:Calcitriol / Q000627:therapeutic use; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000097:blood*; D006801:Humans; D017674:Hypophosphatemia / Q000097:blood*; D008297:Male; D009508:Nevus, Pigmented / Q000097:blood* / Q000188:drug therapy / Q000601:surgery; D015282:Octreotide / Q000627:therapeutic use; D010710:Phosphates / Q000627:therapeutic use; D012626:Sebaceous Gland Neoplasms / Q000097:blood* / Q000188:drug therapy / Q000601:surgery; D013577:Syndrome; D016896:Treatment Outcome
D018931:Antineoplastic Agents, Hormonal; C000717427:FGF23 protein, human; D010710:Phosphates; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D002117:Calcitriol; D015282:Octreotide