Abstract

Onchocerciasis is a severe parasitic infestation caused by Onchocerca volvulus which causes disabling skin and subcutaneous tissue changes and ultimately leads to blindness. It has a huge public health impact due to its socioeconomic burden and the vast number of people it affects in developing countries. In this case, a 60 years old woman was encountered with leopard skin like changes, rashes and pruritus on the left leg; which had been managed as cutaneous mycosis for over a period of 8 years. A diagnosis of onchocerciasis was finally made after a skin snip identified onchocercal microfilariae. The above case shows that onchocerciasis is still a neglected tropical disease (NTD) in Cameroon. This emphasizes the need for more expansive outreach programs in remote areas in Cameroon, a change in health policies to ensure the eradication of this disabling disease and health promotion amongst vulnerable populations.

Highlights

  • 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

  • We present a sporadic case from Northern Tanzania with a minor unilateral hallux anomaly and the common ACVR1 c.617G>A mutation

  • Fibrodysplasia ossificans progressiva (FOP, OMIM #135100) is a rare and disabling autosomal dominantly inherited disorder of connective tissue leading to progressive development of heterotopic ossification (HO) in extra-skeletal sites, i.e. the formation of qualitatively normal bone in skeletal muscles and other connective tissues [1]

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Summary

Introduction

Fibrodysplasia ossificans progressiva (FOP, OMIM #135100) is a rare and disabling autosomal dominantly inherited disorder of connective tissue leading to progressive development of heterotopic ossification (HO) in extra-skeletal sites, i.e. the formation of qualitatively normal bone in skeletal muscles and other connective tissues [1]. The case we present here is of interest because of the minimal and unilateral hallux abnormality in the presence of the common ACVR1c.617G>A mutation It is the first molecularly confirmed case of FOP in sub-Saharan Africa outside South Africa. In October 2013, a 12-year-old girl was referred to the paediatric clinic of KCMC with fever, weakness and headache for seven days, which was diagnosed as malaria and treated She had a history of restricted movements of arms and neck. On examination the patient was febrile with distinctive hard non-tender swellings involving the neck, shoulder and the upper part of the back (Figure 1) These abnormalities were associated with limited range of movements over the jaw, neck, shoulders and elbow joints. She was given paracetamol for the pain and continued to be seen in our clinic

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