Progressive melorheostosis in the peripheral and axial skeleton with associated vascular malformations: imaging findings over three decades

Abstract

A 28-year old woman presented with Léri's disease (melorheostosis) and the rare combination of complex vascular malformations and lymphatic anomalies. Multifocal melorheostosis was segmental and unilateral, located in the left axial and peripheral skeleton, fifth thoracic vertebral body, fifth rib. left upper limb and lumbosacral spine (third lumbar body to first sacral segment). Sacral involvement was associated with spinal canal stenosis. Additionally the patient had multiple nevi and had suffered from left hemiplegia since birth. Lymphangiectasia of the mesentery and thorax led to chylothorax resistant to therapy for which the patient underwent a pleuropericardiectomy. Death ensued due to respiratory failure.

Atypical form of active melorheostosis and its treatment with bisphosphonate

“…Based on long-term follow-up of several cases, we can state that melorheostosis is a benign disease with a slow course and is often asymptomatic. Two cases of death resulting from the complications of lymphangiectasia or vascular malformations in association with melorheostosis have been reported [15,16].…”

Case Report: Severe Melorheostosis Involving the Ipsilateral Extremities

“…The name is derived from the Greek terms melos (limbs), rheos (flow), and osteon (bone). This disorder tends to be segmental [6,8,11]. It may result in pain, limb-length inequality, joint stiffness, progressive deformity, ossification in adjacent soft tissues, and others [4,10,11].…”

Melorheostosis: Two atypical cases

“…Review of literature reveals symptomatic cases may present with scoliosis, stiffness, back pain, progressive myelopathy, radiculopathy, giddiness, and symptoms of vertebrobasilar insufficiency. [5678910] Soft tissue abnormalities consisting of osseous, chondroid, vascular, and fibrocartilaginous tissue have been reported in 76% of cases of melorheostosis. Vascular and lymphatic malformations associated with melorheostosis have been enlisted in Table 1.…”