Familial tumoral calcinosis in two Chinese patients: a case series

Jiaowei Gu,Xiaoli Cheng,Che Zhang,Kui Xiong

doi:10.1186/1752-1947-5-394

Abstract

IntroductionTumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints.Case presentationFamilial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of six, and then experienced subsequent surgeries at a lesion in his right sole of the foot and left hip, respectively. The 16-year-old daughter underwent her first operation at the age of six in her left gluteal region, and subsequent surgeries were performed due to recurrence at the same lesion. Pathologic diagnoses of surgical specimens in both of the patients were reported as tumoral calcinosis. The laboratory results showed hyperphosphatemia with normal levels of serum calcium and alkaline phosphatase. Only surgical treatment was performed in both patients with satisfactory prognosis.ConclusionThis is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed.

Highlights

Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints.Case presentation: Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter
This is the first report of Chinese familial tumoral calcinosis
There are two major clinical categories of Tumoral calcinosis (TC) based on its pathogenesis: familial tumoral calcinosis (FTC) with two subtypes: hyperphosphatemic FTC (HFTC) and normophosphatemic FTC (NFTC) based on serum phosphate status [2]; and secondary tumoral calcinosis

Summary

Introduction

Tumoral calcinosis (TC) was first described by Inclan [1] in 1943 as slow growing, progressive masses usually found adjacent to large joints such as hips, shoulders and elbows. Case one A 14-year-old Han Chinese boy presented with an eightyear history of TC He first noticed a painful mass on the bottom of his right foot at the age of six, and mass resection was performed. A large mass was found on her left hip and buttock It was hard, fixed, nodular, and with a chalky effusion from fistula of involved skin. The motion of left hip articulation was intact Her serum phosphorus level was higher than the upper normal range. Radiography revealed multilobular calcification near the left hip articulation and within the soft tissue of her buttock. The function of her skeleton and articulation nearby was normal.

Discussion

Conclusion