Atypical Clinical Presentation and Diagnostic Difficulties of a Rare Disease: Fibrodysplasia Ossificans Progressiva

Muriel Sidnoma Ouedraogo1,2, Nomtondo Amina Ouedraogo1,2, Badjoh Roseline Rocsane Tiendrebeogo1

  • 1Department of Dermatology-Venereology, Yalgado Ouédraogo University Hospital, Ouagadougou, Burkina Faso.

Pediatric Dermatology
|March 9, 2026
PubMed

Insights

Fibrodysplasia ossificans progressiva, a rare genetic disorder, causes progressive bone formation. This case study details a male infant

Area of Science:

  • Genetics and rare diseases
  • Developmental biology
  • Clinical case studies

Background:

  • Fibrodysplasia ossificans progressiva (FOP), or Münchmeyer's disease, is a rare autosomal dominant disorder.
  • Characterized by progressive heterotopic ossification, leading to a "stone man" phenotype.
  • Early-onset manifestations are critical for timely diagnosis and management.

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