Cutaneous onchocerciasis in Dumbu, a pastoral area in the North-West region of Cameroon: diagnostic challenge and socio-economic implications

  • Mohammed Saleh
  • Joost Commandeur
  • Renata Bocciardi
Keywords: Fibrodysplasia ossificans progressiva, heterotopic ossification, hallux valgus, recurrent ACVR1 mutation

Abstract

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

Published
2016-04-06
Section
Articles

Journal Identifiers


eISSN: 1937-8688