Melorheostosis with osteopoikilosis
Other Names: MSBD syndrome; Mixed sclerosing bone dystrophy
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis , that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
Epidemiology[edit | edit source]
Less than 5 families have been reported in the literature to date.
Cause[edit | edit source]
The combination of melorheostosis with osteopoikilosis may be an unusual complication of familial osteopoikilosis. Osteopoikilosis is caused by a germline mutation in the LEMD3 gene (12q14). A germline mutation in the LEMD3 gene may predispose individuals with osteopoikilosis to develop melorheostosis. However, the exact pathogenesis is currently unknown.
Inheritance[edit | edit source]
Osteopoikilosis is inherited autosomal dominantly. There are no reports of parent to child transmission of melorheostosis. Genetic counseling is possible.
Signs and symptoms[edit | edit source]
As osteopoikilosis is a benign, usually asymptomatic condition, the clinical signs are primarily those of melorheostosis that can manifest with joint contractures, pain, stiffness, limited joint functions, limb-length discrepancy and deformity.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormal cortical bone morphology
- Complete duplication of the distal phalanges of the hand(Complete duplication of the outermost bones of the hand)
- Osteopoikilosis
5%-29% of people have these symptoms
- Hypertension
- Multiple lipomas(Multiple fatty lumps)
- Subcutaneous nodule(Firm lump under the skin)
NIH genetic and rare disease info[edit source]
Melorheostosis with osteopoikilosis is a rare disease.
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