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

R Narazaki, K Ihara, N Namba, H Matsuzaki… - Pediatric …, 2012 - Springer
R Narazaki, K Ihara, N Namba, H Matsuzaki, K Ozono, T Hara
Pediatric nephrology, 2012Springer
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 …
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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