Fibrodysplasia ossificans progressiva (FOP) presenting as a rapidly growing non-calcified neck mass

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant inherited disorder leading to mature ossification within soft tissues. We report a 62-year-old female with a 3-week history of a rapidly enlarging left neck mass with no associated symptoms. A neck CT showed a ~10 cm solid-appearing non-calcified left neck mass that markedly decreased in size on a one-month follow-up neck MRI, but with new extensive edema/intense enhancement in floor of the mouth. Prior radiographs documented hallux valgus and heterotopic ossification of the psoas/paraspinal muscles and shoulder girdle. In this case of FOP, no intervention was implemented and the symptoms improved over time and thus paralleled other such cases for flare-ups. Clinicians should be aware of this rare entity, as it is frequently misdiagnosed as cancer or other benign entities such as infection, resulting in biopsies that can often hasten disease progression.