Fibrodysplasia Ossificans Clinical Presentation

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD   more...
 
Updated: May 13, 2011
 

History

In most cases, fibrodysplasia ossificans progressiva starts in early infancy with episodes of soft tissue swelling; however, reports exist of in utero involvement.

Ectopic bone formation is usually first evident in early childhood in children aged 2-6 years. The main target is the axial musculature, but eventually ectopic bone formation occurs in the ligaments, the fascia, the aponeuroses, the tendons, and the joint capsules. Involvement often demonstrates a proximal-to-distal predilection.

Most patients become bedridden by time they are in their 30s.

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Physical

Fibrodysplasia ossificans progressiva lesions are characterized by painful, tender, rubbery, soft tissue indurations, usually precipitated by a trauma. Lesions mainly develop in the paraspinal muscles of the back and in the limb girdles. Some of the tumors undergo ossification, which can also affect the tendons, the ligaments, and the fascia.

Characteristics of diagnostic value are a hallus valgus deformity (present at birth), torticollis (due to involvement of the sternocleidomastoid muscle), joint immobilization (due to periarticular ossificans), and a thorax deformity (both lateral and anteroposterior).

Proximal tibial osteochondromas are a common phenotypic feature.[12, 13] Mobility is restricted because of ankylosis of the spine and the rib cage. Fibrodysplasia ossificans progressiva is sometimes associated with alopecia and deafness.[14] Aslan et al reported ankylosis of the jaw and van der Meij et al reported restricted mandibular movement, both associated with fibrodysplasia ossificans progressiva.[15, 16] Note the images below.

Widespread tumors and indurations mainly in the scWidespread tumors and indurations mainly in the scapular area, found on radiographic examination to consist of heterotopic bone formation. Typical hallus valgus deformity. Typical hallus valgus deformity.
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Causes

Fibrodysplasia ossificans progressiva is an idiopathic condition precipitated by trauma.

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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Slawomir Majewski, MD  Professor and Director, Department of Dermatology and Venereology, Warsaw School of Medicine, Poland

Disclosure: Nothing to disclose.

Sebastian S Majewski, MD  Consulting Staff, Department of Dermatology, Military Institute of Health Services, Warsaw, Poland

Disclosure: Nothing to disclose.

Stefania Jablonska, MD  Chairman, Professor Emeritus, Department of Dermatology, Warsaw School of Medicine, Poland

Disclosure: Nothing to disclose.

Specialty Editor Board

Jean Paul Ortonne, MD  Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology and American Dermatological Association

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD  Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Professors of Dermatology, North American Hair Research Society, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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Widespread tumors and indurations mainly in the scapular area, found on radiographic examination to consist of heterotopic bone formation.
Typical hallus valgus deformity.
Proliferation of fibroblasts within the muscle with partial replacement of the muscle fibers.
 
 
 
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