Fibrodysplasia ossificans progressiva—primum non nocere

Abstract

The article by Taslimi et al., describing their experience with a patient of fibrodysplasia ossificans progressiva and the accompanying literature review, was informative and concise [1]. We would like to re-emphasize the age old dictum of “primum non nocere” (first, do no harm) by sharing our recent experience with this currently incurable disease. A 16-year-old male presented with insidious onset dysphagia for 20 days which was more for solids. He had a diffuse swelling over the anterior part of neck, which was hard, inflamed, red and tender. There was no preceding trauma, fever, or similar family history. Radiograph of neck showed soft tissue calcification anteriorly (asterisk), compressing the pharyngeal structures (arrow), and ossification of the neck muscles posteriorly (arrowhead, Fig. 1). Patient had hallux valgus deformity, multiple bony swellings over back thigh (Fig. 2) and a chest radiograph showed ossified paraspinal muscles (Fig. 3) and kyphoscoliosis. The boy has been symptomatic since 5 years of age with painful swelling and induration followed by ossification occurring over various parts of body either spontaneously or following trauma, predominantly involving the trunk and later the limbs as well. At presentation, he had severe restriction of movement of the neck, chest, and spine. A clinical diagnosis of fibrodysplasia ossificans progressiva was made. He was managed with analgesics, oral steroids for acute inflammation and nasogastric tube for feeding [2]. Fibrodysplasia ossificans progressiva presenting as dysphagia has not been reported before. The case highlights the potential for clinical diagnosis in this disease. As it has been pointed out rightly, the extreme rarity of the disease leads to frequent misdiagnoses and hence unnecessary interventions. At the community level and primary health-care level, a genetic diagnosis may not be always possible, therefore, lies the importance of clinical diagnosis. In patients presenting with unexplained heterotopic ossification, an attempt to look