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BibTeX
Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome
American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.233-236
Hoffman, William H.
Jueppner, Harald W.
DeYoung, Barry R.
O'Dorisio, M. Sue
Given, Keena S.
2005
Details
Autor(en) / Beteiligte
Hoffman, William H.
Jueppner, Harald W.
DeYoung, Barry R.
O'Dorisio, M. Sue
Given, Keena S.
Titel
Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome
Ist Teil von
American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.233-236
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2005
Link zum Volltext
Quelle
Wiley(RISS)
Beschreibungen/Notizen
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. © 2005 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.30599
Titel-ID: cdi_proquest_miscellaneous_67542684
Format
–
Schlagworte
Adolescent
,
Antineoplastic Agents, Hormonal - therapeutic use
,
Calcitriol - therapeutic use
,
fibroblast growth factor-23
,
Fibroblast Growth Factors - blood
,
Humans
,
Hypophosphatemia - blood
,
hypophosphatemic rickets
,
linear nevus sebaceous syndrome
,
Male
,
Nevus, Pigmented - blood
,
Nevus, Pigmented - drug therapy
,
Nevus, Pigmented - surgery
,
octreotide
,
Octreotide - therapeutic use
,
Phosphates - therapeutic use
,
Sebaceous Gland Neoplasms - blood
,
Sebaceous Gland Neoplasms - drug therapy
,
Sebaceous Gland Neoplasms - surgery
,
Syndrome
,
Treatment Outcome
,
tumor-induced osteomalacia
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