Abstract

CASE REPORT ON FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Muneer A.*, Sonu Maria Sojan, Aparna Shahapurkar, Preeti Kulkarni and V. H. Kulkarni

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Abstract

Stoneman disease is a rare autosomal dominant connective tissue disorder in which skeletal muscles and other soft tissues undergo ossification. The illness typically manifests clinically as painful swelling of the muscles and connective tissue and usually starts in childhood. Ossification begins at some places at the average age of 4-5 years as soon as the swelling goes down, which typically takes around 6 months or longer. The diagnostic criterion for FOP is congenital abnormalities, which are often seen in the great toes at birth in almost all instances. A kid with FOP will eventually experience difficulties, beginning with aberrant joint and gait movement and progressing to being wheelchair-bound by the third decade of life. We present a case of a 8-year-old male child diagnosed with Stoneman disease. Patient presented with neck and head swelling, and multiple hard bony swellings on back. Also child was unable to rotate head sideways with difficulty in talking. Results of cytology report shows that few neutrophils, lymphocytes, clusters of histiocytes against hemorrhagic background and performed ultrasonography of neck region. The patient was initiated on symptomatic treatment with antibiotics and his family was educated about the disease. Counseling was done, and prevention of trivial trauma was advised.

Keywords: FOP, Autosomal dominant, Connective tissue disorder, Ossification, Longterm.