ArticleFrontiers in endocrinology2022
A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.
Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- A phase 2 trial of burosumab for treatment of fibroblast growth factor-23-mediated hypophosphatemia in children and adults with fibrous dysplasia.Bone research · 2026Trial
- Burosumab treatment in an adult with FGF23-mediated hypophosphatemia due to cutaneous skeletal hypophosphatemia syndrome.Journal of the Endocrine Society · 2026Article
- A phase 2 trial of burosumab for treatment of fibroblast growth factor-23 mediated hypophosphatemia in children and adults with fibrous dysplasia.medRxiv : the preprint server for health sciences · 2025Article
- A Child with Cutaneous-Skeletal Hypophosphatemia Syndrome Caused by a Mosaic HRAS Mutation: Outcome of Treatment with Anti-FGF23 Antibody.Calcified tissue international · 2025Article
- Surgical management strategies and clinical outcomes of cutaneous skeletal hypophosphatemia syndrome: a case series.Frontiers in pediatrics · 2025Article
- Use of burosumab in McCune Albright syndrome: case report and review of literature in mosaic disorders with FGF23 overproduction.Frontiers in endocrinology · 2025Review
- Burosumab, a Transformational Treatment in a Pediatric Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.JCEM case reports · 2024Article
- Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.Bone reports · 2024Article
- Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.Frontiers in endocrinology · 2024Review
- Mineral Metabolism in Children: Interrelation between Vitamin D and FGF23.International journal of molecular sciences · 2023Review
- Interactions between FGF23 and vitamin D.Endocrine connections · 2022Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.
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