Fibrodysplasia ossificans progressiva

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[edit] Discussion of Fibrodysplasia ossificans progressiva

  • Fibrodysplasia ossificans progressiva is a rare, slowly progressive disorder characterized by fibroblastic proliferation, subsequent calcification, and ossification of subcutaneous fat, skeletal muscle, tendons, aponeuroses, and ligaments.
  • Frequently associated with symmetric malformation of the digits, especially the thumbs and great toes.
  • Fibrodysplasia ossificans progressiva typically occurs in children (almost half of the patients presenting by age 2 years).

  • The disease is also known as myositis ossificans progressiva, which is a misnomer in that the disease affects primarily connective tissue, with the changes in muscle being secondary.
  • The disease is usually sporadic but may be inherited as an autosomal dominant trait with variable penetrance.
  • Patients usually present with localized soft-tissue swelling.
  • In time, the swelling resolves and the soft-tissue masses coalesce, fibrose, and calcify, leading to the formation of “bony bridges”.
  • Bony bridges cause restriction of respiration and ambulation and skeletal contractures.
  • The ossification process may occur quickly, with doughy nodules progressing to well-defined ossified lesions within weeks.

  • The disease course is characterized by remissions and exacerbations.
  • Local trauma, including surgery, has been implicated in disease progression.

[edit] Imaging Findings for Fibrodysplasia ossificans progressiva

  • The major radiographic features of fibrodysplasia ossificans progressiva include ectopic ossification, short bone abnormalities, and vertebral abnormahities.
    • Almost all patients have microdactyly of the thumbs.
    • The vertebral bodies in the cervical and lumbar regions have a narrowed anteroposterior diameter, and there may be fusion of the posterior arches in the cervical spine.

  • In addition, there may be epiphyseal changes, calcaneal spurs, patella alta, hallux valgus, and cortical thickening of the tibia.
  • Ectopic ossification usually begins in the neck and paravertebral region and progresses to ossified bars and bony bridges throughout the soft tissue.

[edit] Images

Patient #1

[edit] See Also

[edit] External Links

[edit] References for Fibrodysplasia ossificans progressiva