Melorheostosis: case report with 20-year follow-up

The authors report on a typical case of melorheostosis observed in an 18-year-old man, localized in the II digit of the right hand causing tumefaction and irregular pain. At 20-year follow-up, the patient showed a radiographical slight worsening of the lesion. Radiographic examination showed a mild increase in cortical and endosteal hyperostosis with bone shape alteration in the II digit of the right hand, slight cortical and endosteal hyperostosis at the level of right shoulder girdle involving the humerus. The other part of the skeleton was not affected. Clinical examination revealed swelling and tumefaction of the forefinger of the right hand and reduced articular motion both in proximal and distal interphalangeal joint and metacarpal phalangeal joint. The reminder of the clinical examination was normal. Melorheostosis is an uncommon mesenchymal disorder characterized by a chondral hyperostosis of the long bones associated to a sclerosis of the spongious bone. The etiology of this affection is unknown: the most accredited hypothesis is a developmental anomaly with a sequential sclerotomes distribution. Both genders may be affected, with the long tubular bones of the lower limbs more involved. This anomaly is often asymptomatic but maybe accompanied by pain with a smooth symptom progression and periodic exacerbations. Therapy is mainly symptomatic and comprises anti-inflammatory drugs or surgical approach for removal of soft tissue that may preclude daily activities. This case report demonstrates that melorheostosis is a relatively benign disorder with mildly progressive course.