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Camurati-Engelmann disease; progressive diaphyseal dysplasia 1
Pathology:
- progressive diaphyseal dysplasia
Genetics:
- autosomal dominant
- associated with defects in TGFB1
- frequently no family history
Clinical manifestations:
- hyperostosis & sclerosis (hyperostosis & sclerosis) of the diaphyses of long bones (diaphyseal dysplasia)
- skull bones may be thickened
- passages through the skull that carry nerves & blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness
- typically presents in early childhood with
- pain
- muscular weakness
- waddling gait
- chronic bone pain in the legs or arms
- myopathy
- waddling gait
- developmental delay
- exophthalmos, facial paralysis, hearing difficulties & loss of vision may be observed in some cases
Management:
- somewhat treatable
- glucocorticosteroids & immunosuppressive agents used in some cases
- massage, relaxation techniques, gentle stretching, & heat in conjunction with analgesics
- most patients require analgesics
General
skeletal dysplasia
Database Correlations
OMIM 131300
References
- Wikipedia: Camurati-Engelmann disease
https://en.wikipedia.org/wiki/Camurati%E2%80%93Engelmann_disease
- Weerakkody Y et al
Camurati-Engelmann disease.
https://radiopaedia.org/articles/camurati-engelmann-disease
- Camurati-Engelmann disease.
Genetic and Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov/diseases/1072/camurati-engelmann-disease