Primary hyperphosphatemic tumoral calcinosis: a case report.
J HuangL-G CaoT-R ZhangSiming LiQ-Q MengPublished in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2021)
Tumoral calcinosis (TC) is a rare disease characterized by periarticular soft tissue calcification. Some cases were reported in Africa and the Middle East. We report an 11-year-old Chinese girl presenting with recurrent multiple subcutaneous masses around the right elbow and hip regions. Although we found abnormalities in FGF23, a protein associated with phosphate metabolism, no positive results were observed in gene sequencing and analysis. The imaging features, laboratory examination, and pathology results confirmed our diagnosis. By using oral phosphorus-lowering drugs (acetazolamide) combined with complete surgical excision, good results were achieved, and no recurrence was reported during the follow-up of 18 months. We report a case of primary hyperphosphatemic TC. The combined use of oral phosphorus-lowering drugs (acetazolamide) and complete surgical excision produced good results, and no recurrence was reported during the follow-up of 18 months.
Keyphrases
- soft tissue
- high resolution
- free survival
- sewage sludge
- chronic kidney disease
- magnetic resonance imaging
- single cell
- magnetic resonance
- small molecule
- protein protein
- gene expression
- risk assessment
- contrast enhanced
- dna methylation
- ultrasound guided
- binding protein
- anaerobic digestion
- genome wide identification
- contrast enhanced ultrasound