Literature DB >> 12793567

Linear sebaceous naevus syndrome and resistant rickets.

H S Hosalkar1, D H Jones, A Offiah, C Hall.   

Abstract

The association between vitamin-D-resistant rickets and linear sebaceous naevus syndrome is extremely rare. Only eight cases have been described in the English literature and in none were the skeletal aspects addressed. We present three new cases and describe the musculoskeletal features. The details and outcome of surgery for correction of the deformities are discussed. The disturbances of metabolism of vitamin D and the effects of pharmacological treatment are also described.

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Year:  2003        PMID： 12793567     DOI： 10.1302/0301-620x.85b4.13483

Source DB:  PubMed          Journal:  J Bone Joint Surg Br        ISSN： 0301-620X


  6 in total

1.  Giant congenital melanocytic nevi: a rare association with hypophosphatemic rickets.

Authors:  Geeta Gathwala; Poonam Dalal; Jagjit Singh Dalal; Surabhi Dayal; Gajendra Singh
Journal:  Indian J Pediatr       Date:  2012-07-01       Impact factor: 1.967

Review 2.  Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.

Authors:  D Ovejero; Y H Lim; A M Boyce; R I Gafni; E McCarthy; T A Nguyen; L F Eichenfield; C M C DeKlotz; L C Guthrie; L L Tosi; P S Thornton; K A Choate; M T Collins
Journal:  Osteoporos Int       Date:  2016-08-06       Impact factor: 4.507

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

Authors:  Ryo Narazaki; Kenji Ihara; Noriyuki Namba; Hiroshi Matsuzaki; Keiichi Ozono; Toshiro Hara
Journal:  Pediatr Nephrol       Date:  2011-12-29       Impact factor: 3.714

4.  Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Authors:  Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate
Journal:  Hum Mol Genet       Date:  2013-09-04       Impact factor: 6.150

5.  A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets.

Authors:  Carson Huynh; Andrea Gillis; Jessica Fazendin; Hussein Abdullatif
Journal:  Bone Rep       Date:  2022-07-20

6.  Renal Involvement in Linear Nevus Sebaceous Syndrome-An Underrecognized Feature.

Authors:  Chonin Kuok; Kwaiyu Chan
Journal:  Pediatr Rep       Date:  2021-05-01
  6 in total

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