Eur J Pediatr Surg 2010; 20(6): 421-423
DOI: 10.1055/s-0030-1254120
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Tumoral Calcinosis of the Gluteal Region in a 14-Year-Old Girl with Juvenile Polyarthritis

B. Geißler1 , A. Agaimy2 , J. Jüngert3 , A. Hartmann2 , R. Carbon1 , C. Knorr1
  • 1Erlangen University Hospital, Department of Pediatric Surgery, Erlangen, Germany
  • 2University Erlangen, Department of Pathology, Erlangen, Germany
  • 3Erlangen University Hospital, Department of Pediatrics and Adolescent Medicine, Erlangen, Germany
Further Information

Publication History

Publication Date:
21 December 2010 (online)

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].

References

  • 1 Inclan1  A, Leon1  P, Camejo1  M. Tumoral calcinosis.  JAMA. 1943;  121 490-495
  • 2 Longacre AM, Sheer AL. Tumoral calcinosis, case presentation and review of 55 cases in the literature.  JFMA. 1974;  61 221-225
  • 3 Krueger-Franke M, Siebert CH, Weiss M. et al . Tumoral calcinosis of the ischium.  Arch Orthop Trauma Surg. 1992;  111 284-286
  • 4 Smack D, Norton SA, Fitzpatrick JE. Proposal for a pathogenesis-based classification of tumoral calcinosis.  Int J Dermatol. 1996;  35 265-271
  • 5 Kannan S, Ravikumar L, Mahadevan S. et al . Tumoral calcinosis with vitamin D deficiency.  Saudi J Kidney Dis Transpl. 2008;  19 960-963
  • 6 Garcia S, Cofan F, Fernandez de RP. et al . Uremic tumoral calcinosis of the foot mimicking infection.  Foot Ankle Int. 2002;  23 260-263
  • 7 Chefetz I, Kohno K, Izumi H. et al . GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.  Biochim Biophys Acta. 2009;  1792 61-67
  • 8 McClatchie S, Bremner AD. Tumoral calcinosis – an unrecognized disease.  Br Med J. 1969;  1 153-155
  • 9 Braun W, Mayr E, Kundel K. et al . Tumorous calcinosis: a disease of its own?.  Arch Orthop Trauma Surg. 1996;  115 53-58
  • 10 Laskin WB, Miettinen M, Fetsch JF. Calcareous lesions of the distal extremities resembling tumoral calcinosis (tumoral calcinosis-like lesions): clinicopathologic study of 43 cases emphasizing a pathogenesis-based approach to classification.  Am J Surg Pathol. 2007;  31 15-25
  • 11 Liniger P, Slongo T, Eckhardt O. Tumoral calcinosis and atypical juvenile dermatomyositis: case report.  Eur J Pediatr Surg. 1998;  8 382-384
  • 12 Bittmann S, Gunther MW, Ulus H. Tumoral calcinosis of the gluteal region in a child: case report with overview of different soft-tissue calcifications.  J Pediatr Surg. 2003;  38 E4-E7
  • 13 Bostrom B. Tumoral calcinosis in an infant.  Am J Dis Child. 1981;  135 246-247
  • 14 Mitnick PD, Goldfarb S, Slatopolsky E. et al . Calcium and phosphate metabolism in tumoral calcinosis.  Ann Intern Med. 1980;  92 482-487
  • 15 Muller SA, Brunsting LA, Winkelmann RK. Calcinosis cutis: its relationship to scleroderma.  AMA Arch Derm. 1959;  80 15-21
  • 16 Lafferty FW, Reynolds ES, Pearson OH. Tumoral calcinosis: a metabolic disease of obscure etiology.  Am J Med. 1965;  38 105-118
  • 17 Okada T, Hara H, Shimojima H. et al . Spontaneous regression of multiple tumoral calcinosis in a child.  Eur J Dermatol. 2004;  14 424-425

Correspondence

Bettina Geißler

Erlangen University Hospital

Department of Pediatric Surgery

Krankenhausstraße 12

91054 Erlangen

Germany

Phone: +49 09131 853 3296

Fax: +49 09131 853 4432

Email: bettina.geissler@uk-erlangen.de