Current understanding of the clinical features of persons with melorheostosis is restricted primarily to individual case reports and small case series.

To assess the clinical features of patients with melorheostosis treated at our institution from 1972 through 2010.

Chart review.

Tertiary academic medical center.

Twenty‐three patients with “definite” and one patient with “probable” melorheostosis based on radiographic criteria.

The eligible study cohort was identified through the Rochester Medical Index database. Further diagnostic confirmation of patients with melorheostosis was performed by radiographic review.

We evaluated age at first visit to our institution, gender, affected body area, number of bones affected, presenting symptoms, surgical evaluation, and therapies provided.

The average age at first evaluation at our clinic was 36.5 years (median 41.5 years, range 3‐68 years). The female to male ratio was 4:1. The lower extremity was most commonly affected (66.6%), followed by upper extremity (33.3%), spine (16.6%), and head (8.3%). One‐third of patients had involvement of a single bone; two‐thirds had multiple bone involvement. Pain was the most common presenting concern (83.3%), followed by deformity (54.1%), limitation of movement (45.8%), numbness (37.5%), and weakness (25.0%). Most patients had a physician evaluation (87.5%); patients also underwent orthopedic surgery (45.8%), physical therapy (33.3%), and occupational therapy (12.5%).

Melorheostosis is a rare sclerotic bone disease resulting in pain, deformity, and dysfunction. An interdisciplinary approach to care should include nonoperative and operative evaluation, as well as appropriate therapies. A prospective approach to evaluation, including imaging and physical examinations, would provide valuable longitudinal data.

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