Endocrine Abstracts

We report a case of a rare genetic condition of disordered bone turnover requiring complex multidisciplinary management.

A 42-year-old lady presents with a 2-year history of worsening pain in both her legs and feet. She has a long standing history of structural equinus deformities worse on the right ankle and permanently walking on her toes. She also has fixed flexion deformities at both her knees. She normally is not able to weight bear and uses crutches on both sides to mobilise. These problems had started at the age of 7 and have progressively gotten worse. She had recently migrated to the UK and she was managed by her GP with simple analgesia. Her serum bone profile was essentially normal. Imaging of her affected limbs showed extensive radiological appearances in her lower limbs that are classical of melorrheostosis, the linear hyperostosis and ‘dripping candle wax’ appearance of her long bones. Bone scintigraphy scan confirmed the disease being confined to both her lower limbs. Treatment trial with bisphosphonates did not help in alleviating her symptoms of pain. There were no surgical options in terms of improving her symptoms and a conservative approach was adopted with involvement of physiotherapy team. Melorrheostosis is a rare disease with an incidence of <1 in a million. It is believed to be as a result of a disordered bone formation with hyperossification of bones as well as surrounding soft tissue including muscle, tendons, and joints resulting in progressive limb deformities. The exact aetiology has not been completely delineated however LEMD3 gene mutation has been implicated. Melorrheostosis is a progressive condition resulting in significant decline in function and chronic pain.

Currently there is no known effective treatment and management involves symptom control with the aim of maintaining as much function as possible in the affected limbs.