title: Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic.
abstract: BACKGROUND
  Current understanding of the clinical features of persons with melorheostosis is restricted primarily to individual case reports and small case series.
  
  
  OBJECTIVE
  To assess the clinical features of patients with melorheostosis treated at our institution from 1972 through 2010.
  
  
  METHODS
  Chart review.
  
  
  METHODS
  Tertiary academic medical center.
  
  
  METHODS
  Twenty-three patients with "definite" and one patient with "probable" melorheostosis based on radiographic criteria.
  
  
  METHODS
  The eligible study cohort was identified through the Rochester Medical Index database. Further diagnostic confirmation of patients with melorheostosis was performed by radiographic review.
  
  
  METHODS
  We evaluated age at first visit to our institution, gender, affected body area, number of bones affected, presenting symptoms, surgical evaluation, and therapies provided.
  
  
  RESULTS
  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%).
  
  
  CONCLUSIONS
  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.
  
  
  METHODS
  IV.
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, 200 First St SW, Rochester, MN 55905(∗). Electronic address: smith.gabriel@mayo.edu.
authors.forename: Gabriel C
authors.initials: GC
authors.lastname: Smith
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN; Division of Pain Medicine, Mayo Clinic, Rochester, MN(†).
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Pingree
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN(‡).
authors.forename: Laura A
authors.initials: LA
authors.lastname: Freeman
authors.affiliation: Department of Radiology, Mayo Clinic, Rochester, MN(§).
authors.forename: Jane M
authors.initials: JM
authors.lastname: Matsumoto
authors.affiliation: Department of Radiology, Mayo Clinic, Rochester, MN(‖).
authors.forename: Benjamin M
authors.initials: BM
authors.lastname: Howe
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN(¶).
authors.forename: Stephanie N
authors.initials: SN
authors.lastname: Kannas
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN(#).
authors.forename: Mary D
authors.initials: MD
authors.lastname: Pyfferoen
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN(∗∗).
authors.forename: Leah T
authors.initials: LT
authors.lastname: Struss
authors.affiliation: Department of Radiology, Mayo Clinic, Rochester, MN(††).
authors.forename: Doris E
authors.initials: DE
authors.lastname: Wenger
authors.affiliation: Department of Radiology, Mayo Clinic, Rochester, MN(‡‡).
authors.forename: Kimberly K
authors.initials: KK
authors.lastname: Amrami
authors.affiliation: Division of Biostatistics and Informatics, Mayo Clinic, Rochester, MN(§§).
authors.forename: Martha
authors.initials: M
authors.lastname: Matsumoto
authors.affiliation: Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN(‖‖).
authors.forename: Mary L
authors.initials: ML
authors.lastname: Jurisson
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008557:Melorheostosis / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D008875:Middle Aged; D016059:Range of Motion, Articular; D012189:Retrospective Studies; D055815:Young Adult