Teaching Case

Two-year-old girl, born from non-consanguineous marriage, presented with chief complaints of chest wall swelling and mildly restricted movement of left hand for the past three days. She had a short and wide neck. On her back there were multiple hard, non-tender subcutaneous nodules. Laboratory blood tests were within normal range.

Chest radiograph showed heterotopic ossifications and bone bars. Lateral and anteroposterior radiograph of the cervical spine showed paravertebral calcifications. X-ray of both hands and feet showed microdactyly of the first metatarsals and metacarpals along with bilateral hallux valgus. Widened short bilateral femoral necks were visualised on X-ray pelvis.

Fibrodysplasia ossificans progressiva is an autosomal dominant disease [1]. It is clinically characterised by two main features, anomalies of the great toes and thumbs and progressive ectopic ossification of soft tissues. The average onset age is five years.

Sternocleidomastoid is often the first site of involvement leading to severe restriction of motion. There is hallux valgus, ectopic ossification bars of soft tissue, monophalangic first toe, pseudoexostoses, macrodactyly of the first metacarpal and metatarsal, neck muscle oedema and C2–C7 facet joint fusion.

Diagnosis of fibrodysplasia ossificans progressiva should be considered whenever characteristic imaging features of multifocal heterotopic bone formation is seen along with valgus deformities of the big toes. Biopsy is not recommended as they might worsen the ossification at the site [2]. Plain radiographs show specific findings and radiologists may play a major role in diagnosing and preventing invasive biopsy procedures. As this is a rare condition, treatment guidelines are not clear and this condition needs further research.

Written informed patient consent for publication has been obtained.