Cutaneous onchocerciasis in Dumbu, a pastoral area in the North-West region of Cameroon: diagnostic challenge and socio-economic implications
Fibrodysplasia ossificans progressiva is a rare autosomal dominantly inherited disorder of connective tissue caused by mutations in the gene encoding for ACVR1/ALK2, a bone morphogenetic protein type I receptor. It is mainly characterized by congenital malformations of the great toes and the formation of qualitatively normal bone in extra-skeletal sites leading to severe disability and eventually death. We present a sporadic case from Northern Tanzania with a minor unilateral hallux anomaly and the common ACVR1 c.617G>A mutation.
Key words: Fibrodysplasia ossificans progressiva, heterotopic ossification, hallux valgus, recurrent ACVR1 mutation