Tumoral Calcinosis of the Gluteal Region in a 14-Year-Old Girl with Juvenile Polyarthritis

Introduction

Tumoral calcinosis (TC) is a rare disease characterized by uni- or multifocal calcification of soft tissues [1]. The lesions commonly develop around large joints, in particular the hip joints, shoulders and elbows, but the hand and wrist may also be affected. A single or multiple palpable tumoral masses increasing in size represent the typical clinical presentation. Restricted joint mobility and pain herald disease progression [2]. Histologically, the lesions are composed of tumor-forming lobules of amorphous calcium salt deposits within a fibrous stroma. A mixed inflammatory infiltrate rich in macrophages and occasional giant cells of the foreign-body type are commonly present at the borders of the calcifications [3].

The onset of disease is in the first and second decade of life in the majority of cases (≈80%). Although relatively rare, presentation in patients older than 50 years is well documented [2]. According to a pathogenesis-based classification of TC proposed by Smack et al. [4], three types of TC are recognized: 1) primary normophosphatemic TC; 2) primary hyperphosphatemic TC; and 3) secondary TC. Secondary TC is associated with systemic diseases known to predispose to soft tissue calcifications, in particular renal insufficiency, hyperparathyroidism, hypervitaminosis D, vitamin D deficiency and collagen vascular disease [4] [5] [6]. Recent investigations showed loss-of-function mutations in GALNT3 as a cause of primary hyperphosphatemic familial tumoral calcinosis [7]. A history of antecedent trauma was documented in some cases and possibly contributes to the development of tumoral calcinosis in predisposed individuals [8].

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