Chronic ulcers, calcification and calcified fibrous tumours: phenotypic manifestations of a congenital disorder of heterotopic ossification

Abstract

Calcification is a rarely reported cause for chronic, cutaneous ulceration. Although dystrophic calcification occurs in chronic ulcers, idiopathic calcification and ossification leading to recurrent ulcerations is seldom reported. This report illustrates a challenging case with various non healing wounds, calcification/ossification and calcified fibrous tumours. A 56-year-old woman presented with chronic, painful wounds and calcified deposits in her feet, hands and abdomen, some dating back to childhood. The surgeries she had had for various unrelated conditions healed with hard, calcified deposits, which later ulcerated. Skeletal radiological imaging revealed multiple soft-tissue deposits, with calcification and areas of ossification, along with gross distortion of the bony architecture of her feet. All biochemical investigations were normal apart from raised serum alkaline phosphatase. The management has encompassed a combination of conservative and surgical measures (culminating in a left below-knee amputation) with varying degrees of success. Having ruled out other causes of subcutaneous calcification, three congenital disorders of heterotopic ossification fit this patient's presentation: Albright hereditary osteodystrophy (AHO), fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH). Although AHO and FOP are possibilities, POH is most likely. In addition to describing the diverse phenotypic manifestations of this disorder, this report discusses the diagnostic dilemmas, difficulties in optimising the management plan and issues relating to health-related quality of life in this patient.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

“…Pamidronate has also been used in a single patient with POH as a primary treatment of progressing heterotopic ossifications, with an apparent delay in new bone formation, rather than a change in the ectopic bone itself 246 . Etidronate has also been used with an apparent beneficial effect on the progression of ectopic ossifications in one patient with a POH-like presentation 247 , but no improvement was reported in another patient with POH 248 . Finally, topical sodium thiosulfate has been successfully administered in patients with hyperphosphataemic familial tumoural calcinosis or those with hyperphosphataemia–hyperostosis syndrome with a clinically and radiologically significant decrease of ectopic ossifications 249 .…”

Calcified fibrous nodules in masseter muscle - A case report and possible etiologies

“…In SLE, calcifications develop in subcutaneous soft tissues, skeletal muscles and, rarely, in the arteries in the extremities 6 . The calcification occurs by phosphate and calcium deposition in necrotic tissues 5 . According to the American College of Rheumatology (ACR), an SLE diagnosis requires the presence of at least four of the eleven factors that are listed in Chart 1.…”

“…Particularly in these cases, the mechanisms of calcification involving calcium phosphate deposition have not yet been completely elucidated 4 . Other authors pointed out the presence of fibro-calcified nodules related to vascular thrombi 5 . In this case, they resulted from traumatic lesions that had affected the endothelium.…”