title: Melorheostosis: segmental osteopoikilosis or a separate entity?
abstract: OBJECTIVE
  Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum.
  
  
  METHODS
  This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations.
  
  
  RESULTS
  One of the patients presented with foot size asymmetry along with intermittent foot pain and limping. This patient also had irregular nonblanching yellow plaque-like lesion on the forehead. The second patient presented with abnormal gait but no pain. Radiographs demonstrated endosteal hyperostosis, which were consistent with a mixed picture of melorheostosis and osteopoikilois. Genetic testing of the LEMD3 gene from a blood sample was negative in both cases.
  
  
  CONCLUSIONS
  The diagnosis of melorheostosis can be made based on the clinical and radiographic features and can be challenging to differentiate from other hyperostosis conditions.
  
  
  METHODS
  Level V.
authors.affiliation: *Division of Orthopaedic Surgery ‡Department of Genetics, The Children's Hospital of Philadelphia †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
authors.forename: Muayad
authors.initials: M
authors.lastname: Kadhim
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.forename: Holly
authors.initials: H
authors.lastname: Dubbs
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: John P
authors.initials: JP
authors.lastname: Dormans
mesh_terms: D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005528:Foot / Q000000981:diagnostic imaging / Q000254:growth & development; D005529:Foot Bones / Q000473:pathology*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008557:Melorheostosis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D052580:Muscle Stretching Exercises / Q000379:methods; D009929:Organ Size; D010023:Osteopoikilosis / Q000175:diagnosis*; D004856:Postural Balance; D011859:Radiography