Chronic ulcers, calcification and calcified fibrous tumours: phenotypic manifestations of a congenital disorder of heterotopic ossification.
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.
Kupitz
Susanne
S
Department of Medicine, New Cross Hospital, Wolverhampton, England, UK.
Enoch
Stuart
S
Harding
Keith G
KG
D000469:Alkaline Phosphatase / Q000097:blood; D002114:Calcinosis / Q000150:complications* / Q000601:surgery; D002908:Chronic Disease; D005260:Female; D005350:Fibroma / Q000150:complications* / Q000601:surgery; D006801:Humans; D008875:Middle Aged; D009999:Ossification, Heterotopic / Q000150:complications / Q000151:congenital* / Q000601:surgery; D010641:Phenotype; D012878:Skin Neoplasms / Q000150:complications* / Q000601:surgery; D014456:Ulcer / Q000150:complications* / Q000601:surgery
D000469:Alkaline Phosphatase