PMID- 22205508 OWN - NLM STAT- MEDLINE DCOM- 20120724 LR - 20211203 IS - 1432-198X (Electronic) IS - 0931-041X (Linking) VI - 27 IP - 5 DP - 2012 May TI - Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23. PG - 861-3 LID - 10.1007/s00467-011-2086-4 [doi] AB - 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. FAU - Narazaki, Ryo AU - Narazaki R AD - Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. FAU - Ihara, Kenji AU - Ihara K FAU - Namba, Noriyuki AU - Namba N FAU - Matsuzaki, Hiroshi AU - Matsuzaki H FAU - Ozono, Keiichi AU - Ozono K FAU - Hara, Toshiro AU - Hara T LA - eng PT - Case Reports PT - Journal Article DEP - 20111229 PL - Germany TA - Pediatr Nephrol JT - Pediatric nephrology (Berlin, Germany) JID - 8708728 RN - 0 (FGF23 protein, human) RN - 0 (Parathyroid Hormone) RN - 0 (Phosphates) RN - 0 (RNA, Messenger) RN - 37341-29-0 (Immunoglobulin E) RN - 62031-54-3 (Fibroblast Growth Factors) RN - 7Q7P4S7RRE (Fibroblast Growth Factor-23) RN - P6YZ13C99Q (Calcifediol) SB - IM MH - Calcifediol/therapeutic use MH - Child, Preschool MH - Dietary Supplements MH - Familial Hypophosphatemic Rickets/*complications/*genetics/pathology MH - Female MH - Fibroblast Growth Factor-23 MH - Fibroblast Growth Factors/*blood MH - Humans MH - Immunoglobulin E/blood MH - Nevus, Sebaceous of Jadassohn/*complications/*genetics/pathology MH - Parathyroid Hormone/blood MH - Phosphates/therapeutic use MH - Polymerase Chain Reaction MH - RNA, Messenger/biosynthesis/genetics MH - Skin/metabolism/pathology EDAT- 2011/12/30 06:00 MHDA- 2012/07/25 06:00 CRDT- 2011/12/30 06:00 PHST- 2011/08/18 00:00 [received] PHST- 2011/11/24 00:00 [accepted] PHST- 2011/11/24 00:00 [revised] PHST- 2011/12/30 06:00 [entrez] PHST- 2011/12/30 06:00 [pubmed] PHST- 2012/07/25 06:00 [medline] AID - 10.1007/s00467-011-2086-4 [doi] PST - ppublish SO - Pediatr Nephrol. 2012 May;27(5):861-3. doi: 10.1007/s00467-011-2086-4. Epub 2011 Dec 29.