Literature DB >> 15742370

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

William H Hoffman1, Harald W Jueppner, Barry R Deyoung, M Sue O'dorisio, Keena S Given.   

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.

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Year:  2005        PMID: 15742370     DOI: 10.1002/ajmg.a.30599

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  28 in total

Review 1.  FGF23 and Phosphate Wasting Disorders.

Authors:  Xianglan Huang; Yan Jiang; Weibo Xia
Journal:  Bone Res       Date:  2013-06-28       Impact factor: 13.567

Review 2.  Disorders of phosphate homeostasis and tissue mineralisation.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Endocr Dev       Date:  2009-06-03

3.  Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets.

Authors:  Sidharth K Sethi; Pankaj Hari; Arvind Bagga
Journal:  Pediatr Nephrol       Date:  2010-03-09       Impact factor: 3.714

Review 4.  Genodermatoses caused by genetic mosaicism.

Authors:  M Vreeburg; M A M van Steensel
Journal:  Eur J Pediatr       Date:  2012-11-01       Impact factor: 3.183

Review 5.  Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.

Authors:  D Ovejero; Y H Lim; A M Boyce; R I Gafni; E McCarthy; T A Nguyen; L F Eichenfield; C M C DeKlotz; L C Guthrie; L L Tosi; P S Thornton; K A Choate; M T Collins
Journal:  Osteoporos Int       Date:  2016-08-06       Impact factor: 4.507

Review 6.  Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.

Authors:  Bracha K Goldsweig; Thomas O Carpenter
Journal:  Curr Osteoporos Rep       Date:  2015-04       Impact factor: 5.096

7.  Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23.

Authors:  Ryo Narazaki; Kenji Ihara; Noriyuki Namba; Hiroshi Matsuzaki; Keiichi Ozono; Toshiro Hara
Journal:  Pediatr Nephrol       Date:  2011-12-29       Impact factor: 3.714

Review 8.  FGF23 and syndromes of abnormal renal phosphate handling.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

9.  Approach to the hypophosphatemic patient.

Authors:  Erik A Imel; Michael J Econs
Journal:  J Clin Endocrinol Metab       Date:  2012-03       Impact factor: 5.958

10.  Matrix extracellular phosphoglycoprotein (MEPE) correlates with serum phosphorus prior to and during octreotide treatment and following excisional surgery in hypophosphatemic linear sebaceous nevus syndrome.

Authors:  William H Hoffman; Alka Jain; Harold Chen; Neal S Fedarko
Journal:  Am J Med Genet A       Date:  2008-08-15       Impact factor: 2.802

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