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Published in: Pediatric Nephrology 5/2012

01-05-2012 | Brief Report

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

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

Published in: Pediatric Nephrology | Issue 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.
Literature
1.
go back to reference Klein GL, Dallas JS, Hawkins HK, Swischuk LE, McCauley RL (1998) Congenital linear sebaceous nevus syndrome. J Bone Miner Res 13:1056–1057PubMedCrossRef Klein GL, Dallas JS, Hawkins HK, Swischuk LE, McCauley RL (1998) Congenital linear sebaceous nevus syndrome. J Bone Miner Res 13:1056–1057PubMedCrossRef
2.
go back to reference Zutt M, Strutz F, Happle R, Habenicht EM, Emmert S, Haenssle HA, Kretschmer L, Neumann C (2003) Schimmelpenning–Feuerstein-–Mims syndrome with hypophosphatemic rickets. Dermatology 207:72–76PubMedCrossRef Zutt M, Strutz F, Happle R, Habenicht EM, Emmert S, Haenssle HA, Kretschmer L, Neumann C (2003) Schimmelpenning–Feuerstein-–Mims syndrome with hypophosphatemic rickets. Dermatology 207:72–76PubMedCrossRef
3.
go back to reference Aschinberg LC, Solomon LM, Zeis PM, Justice P, Rosenthal IM (1977) Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 91:56–60PubMedCrossRef Aschinberg LC, Solomon LM, Zeis PM, Justice P, Rosenthal IM (1977) Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 91:56–60PubMedCrossRef
4.
go back to reference Carey DE, Drezner MK, Hamdan JA, Mange M, Ahmad MS, Mubarak S, Nyhan WL (1986) Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia. J Pediatr 109:994–1000PubMedCrossRef Carey DE, Drezner MK, Hamdan JA, Mange M, Ahmad MS, Mubarak S, Nyhan WL (1986) Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia. J Pediatr 109:994–1000PubMedCrossRef
5.
go back to reference Hoffman WH, Jueppner HW, Deyoung BR, O'Dorisio MS, Given KS (2005) Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A 134:233–236PubMed Hoffman WH, Jueppner HW, Deyoung BR, O'Dorisio MS, Given KS (2005) Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A 134:233–236PubMed
6.
go back to reference Sethi SK, Hari P, Bagga A (2010) Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets. Pediatr Nephrol 25:1577–1578PubMedCrossRef Sethi SK, Hari P, Bagga A (2010) Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets. Pediatr Nephrol 25:1577–1578PubMedCrossRef
7.
go back to reference Ihara K, Nomura A, Hikino S, Takada H, Hara T (2000) Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells. J Inherit Metab Dis 23:583–592PubMedCrossRef Ihara K, Nomura A, Hikino S, Takada H, Hara T (2000) Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells. J Inherit Metab Dis 23:583–592PubMedCrossRef
8.
go back to reference Chou YY, Chao SC, Shiue CN, Tsai WH, Lin SJ (2005) Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. J Pediatr Endocrinol Metab 18:93–95PubMed Chou YY, Chao SC, Shiue CN, Tsai WH, Lin SJ (2005) Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. J Pediatr Endocrinol Metab 18:93–95PubMed
9.
go back to reference Guhan B, Duncan RD (2004) Linear sebaceous naevus syndrome and resistant rickets. J Bone Joint Surg Br 86:151, author reply 151PubMed Guhan B, Duncan RD (2004) Linear sebaceous naevus syndrome and resistant rickets. J Bone Joint Surg Br 86:151, author reply 151PubMed
10.
go back to reference Hosalkar HS, Jones DH, Offiah A, Hall C (2003) Linear sebaceous naevus syndrome and resistant rickets. J Bone Joint Surg Br 85:578–583PubMedCrossRef Hosalkar HS, Jones DH, Offiah A, Hall C (2003) Linear sebaceous naevus syndrome and resistant rickets. J Bone Joint Surg Br 85:578–583PubMedCrossRef
11.
go back to reference Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87:4957–4960PubMedCrossRef Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87:4957–4960PubMedCrossRef
12.
go back to reference Ramon I, Kleynen P, Body JJ, Karmali R (2010) Fibroblast growth factor 23 and its role in phosphate homeostasis. Eur J Endocrinol 162:1–10PubMedCrossRef Ramon I, Kleynen P, Body JJ, Karmali R (2010) Fibroblast growth factor 23 and its role in phosphate homeostasis. Eur J Endocrinol 162:1–10PubMedCrossRef
13.
go back to reference Westerberg PA, Linde T, Wikstrom B, Ljunggren O, Stridsberg M, Larsson TE (2007) Regulation of fibroblast growth factor-23 in chronic kidney disease. Nephrol Dial Transplant 22:3202–3207PubMedCrossRef Westerberg PA, Linde T, Wikstrom B, Ljunggren O, Stridsberg M, Larsson TE (2007) Regulation of fibroblast growth factor-23 in chronic kidney disease. Nephrol Dial Transplant 22:3202–3207PubMedCrossRef
14.
go back to reference Ben-Dov IZ, Pappo O, Sklair-Levy M, Galitzer H, Ilan Y, Naveh-Many T, Silver J (2007) Lanthanum carbonate decreases PTH gene expression with no hepatotoxicity in uraemic rats. Nephrol Dial Transplant 22:362–368PubMedCrossRef Ben-Dov IZ, Pappo O, Sklair-Levy M, Galitzer H, Ilan Y, Naveh-Many T, Silver J (2007) Lanthanum carbonate decreases PTH gene expression with no hepatotoxicity in uraemic rats. Nephrol Dial Transplant 22:362–368PubMedCrossRef
Metadata
Title
Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23
Authors
Ryo Narazaki
Kenji Ihara
Noriyuki Namba
Hiroshi Matsuzaki
Keiichi Ozono
Toshiro Hara
Publication date
01-05-2012
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 5/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-011-2086-4

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