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Pediatric Nephrology

Erschienen in:

01.05.2012 | Brief Report

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

verfasst von: Ryo Narazaki, Kenji Ihara, Noriyuki Namba, Hiroshi Matsuzaki, Keiichi Ozono, Toshiro Hara

Erschienen in: Pediatric Nephrology | Ausgabe 5/2012

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Abstract

Background

Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system.

Case

We report the case of a 5-year-old girl who had LNSS with hypophosphatemic rickets and multiple fractures of her extremities. Biochemical tests revealed a high serum level of fibroblast growth factor-23 (FGF-23) but normal levels of immunoglobulin E (IgE) and parathormone (PTH). FGF-23 mRNA expression in the skin lesions of our patient’s skin was found to be below the limit of detection in all samples tested by quantitative-PCR analysis.

Conclusions

It is possible that an as-yet unidentified substance increases FGF-23 expression LNS lesions.

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Titel: Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23
verfasst von: Ryo Narazaki
Kenji Ihara
Noriyuki Namba
Hiroshi Matsuzaki
Keiichi Ozono
Toshiro Hara
Publikationsdatum: 01.05.2012
Verlag: Springer-Verlag
Erschienen in: Pediatric Nephrology / Ausgabe 5/2012
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-011-2086-4

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

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Background

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Conclusions

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