Journal of Diagnostics Concepts & Practice >

2020 , Vol. 19 >Issue 03: 232 - 237

DOI: https://doi.org/10.16150/j.1671-2870.2020.03.006

Original articles

The clinical investigation of two cases of cutaneous skeletal hypophosphatemia syndrome and review of literature

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  • Shanghai Clinical Research Center of Bone Diseases, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China

Received date: 2019-12-03

  Online published: 2020-06-25

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Abstract

Objective: To explore the clinical features, imaging manifestations, gene mutations and treatment response of 2 sporadic cases of cutaneous skeletal hypophosphatemia syndrome. Methods: The case history, clinical presentation and laboratory and imaging data were reviewed. The genomic DNA was extracted from peripheral blood and skin tissue of patients were sequenced by Sanger sequencing for detection of KRAS、NRAS and HRAS gene mutations. Results: Both patients had bone pain accompanied with progressive difficulty in movement, scoliosis, multiple fractures, and melanocytic nevi located in waist and hips. The laboratory investigation revealed decreased blood phosphorus level（0.44 mmol/L and 0.46 mmol/L） and elevated levels of alkaline phosphatase(ALP)（157 U/L and 277 U/L） and fibroblast growth factor 23(FGF-23)（57.0 ng/L and 118.5 ng/L）. The dual-energy X-ray absorption detector indicated a significant decrease in bone density. The symptoms were significantly improved after treatment with neutral phosphorus and vitamin D. No related gene mutation was identified. Conclusions: Cutaneous skeletal hypophosphatemia syndrome is a rare metabolic bone disease with unclear pathogenesis. Currently, the diagnosis still relies on characteristic clinical, laboratory and imaging manifestation. Identification of RAS gene mutations will help the establishment of the diagnosis.

Key words： Cutaneous nevi; hypophosphatemia; Skeletal dysplasia

Cite this article

LIU Li, WEI Zhe, LIN Xiaoyun, YUE Hua, ZHANG Zhenlin . The clinical investigation of two cases of cutaneous skeletal hypophosphatemia syndrome and review of literature[J]. Journal of Diagnostics Concepts & Practice, 2020 , 19(03) : 232 -237 . DOI: 10.16150/j.1671-2870.2020.03.006

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