Melorheostosis: a review of 23 cases

Abstract

The aim of this study was to review clinical and radiological signs of melorheostosis in a large series of cases. Family history, patient history, clinical data and radiological features of 23 consecutive cases of melorheostosis were investigated. Criteria for establishing the diagnosis "melorheostosis" were defined. Sixteen patients (mean age 34 years, equal ratio between genders) had chronic pain in the affected limb(s) and/or subcutaneous fibrosis and/or various skin lesions. Number of involved bones: one bone (n = 10); two bones (n = 4); three or more bones (n = 9). Anatomic distribution: upper extremity (n = 5); lower extremity (n = 16); upper and lower extremity (n = 1); sacrum (n = 1). Radiologic pattern: osteoma-like (n = 7); classic candle wax appearance (n = 5); myositis ossificans-like (n = 1); osteopathia striata-like (n = 6); mixed pattern (n = 4). Patterns different from the appearance formerly judged to be "classic" prevail. The standard concept of disease manifestation has to be adjusted. Pathogenesis remains unclear. The classic theory claims the presence of an early embryonic infection of a sensory nerve inducing changes in the respective sclerotome, but we propose the concept of mosaicism as a better explanation for the sporadic occurrence, the asymmetric "segmental" pattern with variable extent of involvement and equal gender ratio of the disease.

Localised melorheostosis

“…[1][2][3] It got this name because of the characteristic periosteal hyperostosis along the cortex of long bones which looks similar to the flowing or dripping of candle wax [originated from Greek, melos = limb, rhein = to flow, ostos = bone]. [4][5][6] Melorheostosis is also known by other synonyms such as candle disease of the bone, and osteosis eburnisans monomelica. 8,9 Melorheostosis was first described by Leri The etiology of melorheostosis remains unknown.…”

“…Surgical procedures consist of soft-tissue procedures such as excision of fibrous and osseous tissue, fasciotomy, capsulotomy, osteotomies and excision of hyperostoses, arthrodesis, and amputation. [1][2][3][4][5][6][7] …”

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

“…They are often accompanied by abnormalities of adjacent soft tissues, such as joint contractures, sclerodermatous skin lesions, muscle atrophy, hemangiomas and lymphoedema 10,11 . a b Affected individuals may be asymptomatic or may complain of chronic pain in the affected limb 12 .…”

Characterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy

“…Melorheostosis usually affects only one bone or one limb, and commonly involves the neurocranium and the hip bones (Leri and Joanny, 1992;Freyschmidt, 2001;Subhas et al, 2008;Abdullah et al, 2011). Radiographic images of this disease reveal cortical and endosteal involvement (Graham and Parke, 2005).…”