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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.
Abstract:
Fibrodysplasia ossificans progressiva, also known as Münchmeyer's disease, is a rare autosomal dominant genetic disorder characterized by progressive heterotopic ossification, ultimately resulting in a "stone man" phenotype. We present the case of a male infant who exhibited musculocutaneous manifestations during the neonatal period.
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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