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Am J Med Genet A. 2005 Apr 30;134(3):233-6.

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

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  • 1Department of Pediatrics, Pediatric Endocrinology, Medical College of Georgia, Augusta, GA 30912, USA. whoffman@mail.mcg.edu

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.

PMID:
15742370
[PubMed - indexed for MEDLINE]
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