Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23.
BACKGROUND
Linear nevus sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system.


METHODS
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.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Ryo
R
Narazaki
Kenji
K
Ihara
Noriyuki
N
Namba
Hiroshi
H
Matsuzaki
Keiichi
K
Ozono
Toshiro
T
Hara
D002112:Calcifediol / Q000627:therapeutic use; D002675:Child, Preschool; D019587:Dietary Supplements; D053098:Familial Hypophosphatemic Rickets / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000097:blood*; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D054000:Nevus, Sebaceous of Jadassohn / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000627:therapeutic use; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D012867:Skin / Q000378:metabolism / Q000473:pathology
C000717427:FGF23 protein, human; D010281:Parathyroid Hormone; D010710:Phosphates; D012333:RNA, Messenger; D007073:Immunoglobulin E; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D002112:Calcifediol