Year: 2025
Type: article
Study design: Case Report
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.
Authors: Mridul Singh, Anushka Aggarwal, Sneha Bhosale, Meera Shah, Renu Kumawat, Anita Mahajan, Sundeep Upadhayaya
Institution: Indraprastha Apollo Hospitals
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411615655