Heterotopic Ossification in a 2-year-old girl: Fibrodysplasia Ossificans Progressiva

We report a case of a two-year-old girl presenting with progressive multiple bony swellings over the neck and back, diagnosed as Fibrodysplasia ossificans progressiva (FOP) based on radiological and genetic tests. FOP is an extremely rare disorder of heterotopic ossification which leads to progressive immobility. Efforts to correct deformities by surgical resection further stimulate new bone formation and lead to clinical worsening. Classically, FOP presents as malformation of the great toes and progressive skeletogenesis. It can be misdiagnosed in early stages, and flare-ups usually occur during the first decade of life, resulting in increasing disability. Currently preventive measures and symptomatic management of flare-ups is the commonly used approach. Drug trials are underway for development of more definite treatment of this rare condition.

Authors

Publication Details

Journal
International Journal of Rare Diseases & Disorders
Published
2025-04-12
DOI
https://doi.org/10.23937/2643-4571/1710061
Primary Topic
Heterotopic Ossification and Related Conditions
Type
article
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article

Heterotopic Ossification in a 2-year-old girl: Fibrodysplasia Ossificans Progressiva

Renu Kumawat, Anita Mahajan, Akash Deep Aggarwal, Meera Shah et al.
International Journal of Rare Diseases & Disorders
Heterotopic Ossification and Related Conditions
article

Heterotopic Ossification in a 2-year-old girl: Fibrodysplasia Ossificans Progressiva

Renu Kumawat, Anita Mahajan, Akash Deep Aggarwal, Meera Shah, Mahipal Singh, Sneha Bhosale, Sundeep Upadhayaya
article en

Abstract

We report a case of a two-year-old girl presenting with progressive multiple bony swellings over the neck and back, diagnosed as Fibrodysplasia ossificans progressiva (FOP) based on radiological and genetic tests. FOP is an extremely rare disorder of heterotopic ossification which leads to progressive immobility. Efforts to correct deformities by surgical resection further stimulate new bone formation and lead to clinical worsening. Classically, FOP presents as malformation of the great toes and progressive skeletogenesis. It can be misdiagnosed in early stages, and flare-ups usually occur during the first decade of life, resulting in increasing disability. Currently preventive measures and symptomatic management of flare-ups is the commonly used approach. Drug trials are underway for development of more definite treatment of this rare condition.

International Journal of Rare Diseases & DisordersVol. 7(1)
Openalex Percentile: Top 75%
Heterotopic Ossification and Related Conditions
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Heterotopic Ossification in a 2-year-old girl: Fibrodysplasia Ossificans Progressiva — Renu Kumawat, Anita Mahajan, et al. · International Journal of Rare Diseases & Disorders (2025) | TGRS Research Map | TGRS