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

More general terms

• skeletal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/131300