{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T12:38:06Z","timestamp":1777293486335,"version":"3.51.4"},"reference-count":16,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:00:00Z","timestamp":1729036800000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare disorder characterized by the presence of melanocytic nevi, dysplastic cortical bony lesions, and fibroblast growth factor\u00a023 (FGF23)-mediated hypophosphatemic rickets. Herein, we describe the diagnosis of an 8-year-old girl presenting with short stature, reduced lower limb mobility, and abnormal gait due to muscle weakness and constant pain in the legs. Biochemical parameters demonstrated hypophosphatemia, hyperphosphaturia, slight increase in parathyroid hormone (PTH), high levels of alkaline phosphatase, and elevated FGF23. Burosumab improved phosphate-wasting, serum phosphorus, alkaline phosphatase, and PTH, followed by a significant mineralization in vertebral bodies evidenced by radiographic assessment. Our report shows a long-term follow-up of CSHS with a notable improvement promoted by an anti-FGF23 therapy.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae184","type":"journal-article","created":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T15:50:50Z","timestamp":1729093850000},"source":"Crossref","is-referenced-by-count":3,"title":["Burosumab, a Transformational Treatment in a Pediatric Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8305-3930","authenticated-orcid":false,"given":"Paulo Cesar Alves","family":"da Silva","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Hospital Infantil Joana de Gusm\u00e3o , Florian\u00f3polis 88025-301 ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinicius Rene","family":"Giombelli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Hospital Infantil Joana de Gusm\u00e3o , Florian\u00f3polis 88025-301 ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0389-5976","authenticated-orcid":false,"given":"Fernando Henrique","family":"Galv\u00e3o Tessaro","sequence":"additional","affiliation":[{"name":"Ultragenyx Brasil Farmac\u00eautica LTDA , Rua Josefina, 200 Andar 1 Conj 115, Vila Progresso, Guarulhos 07093-080 ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,10,16]]},"reference":[{"issue":"12","key":"2024101615492638800_luae184-B1","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1007\/s00198-016-3702-8","article-title":"Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment","volume":"27","author":"Ovejero","year":"2016","journal-title":"Osteoporos 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