Recurrent Peri-Articular Masses in a Patient With Clinically Diagnosed Familial Tumoral Calcinosis: Case Report

Introduction Tumoral calcinosis is a rare genetic disorder characterized by the presence of calcium deposits in peri-articular soft tissues [1,2,3]. Recurrence rates for this disorder can vary depending on the chosen treatment or other metabolic abnormalities. For instance, one case series suggested that an incomplete resection may link to a recurrence rate of up to 75% [5], while others report recurrence rates of up to 33% for patients without metabolic abnormalities [6]. Case Presentation A 42-year-old woman visited a doctor because of pain and growing mass in the hip region. Patient stated that for the past 30 years she had over 20 surgical operations because of calcified masses mainly in the hip region. During childhood, she was diagnosed with a phosphate and calcium metabolism disorder. No family history was reported. On physical examination the patient had hypersthenic body composition (BMI 39,92) and a firm, immobile mass was observed in the right hip region. Over the years blood tests have showed that she had persistent hyperphosphatemia, elevated FGF23, lower ionised calcium and 25-OH vitamin D levels. Kidney and thyroid markers were normal. MRI showed a ∼23,4x16,8x13,4 mass with lobulated structures which had multiple signs of sedimentation without bone involvement. Despite pending genetic test results, the patient was clinically diagnosed with ORPHA 53715: familial tumoral calcinosis. Due to symptomatic pain the mass was surgically removed and post-operation a low phosphate diet was recommended to manage her hyperphosphatemia. Discussion Familial tumoral calcinosis (FTC) is a rare genetic condition associated with calcium phosphate deposition in periarticular soft tissues [2]. Given it's rarity there is a lack of recommendations on successful treatment strategies [4]. The main treatment option for FTC patients remain surgical treatment [1,3]. A different approach treating metabolism abnormalities using medications should be considered as a first-line treatment option, because of high recurrence rates associated with surgical treatment options [1,4]. Conclusions This case report underscores the recurrence risk of familiar tumoral calcinosis, associated with surgical treatment alone. Given it's rarity further research is needed to establish a successful treatment method for achieving long-term effects in patients affected by this condition.