Introduction Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant connective tissue disorder characterized by congenital great toes malformation and progressive heterotopic osteogenesis leading to progressive debilitating ankylosis of the body. A recurrent missense mutation in the activin receptor 1A/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) rece...

Fig. 1. Dry gangrene of the fingers (A and B) and dusky red discoloration of the right great toe (C) are shown. Progression of the gangrene of the fingers (D and E) and development of gangrenous necrosis of the toes (F) are shown. Plain radiographs demonstrating marked vascular calcification of the hands and feet (G–J). Skin biopsy revealing calcification (K) and microthrombosis (L and M) of sm...

A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; clef...

Fibrodysplasia ossificans progressiva (FOP) is a genetic disease known by its progressive bone formation in soft tissues. It has various symptoms and clinical indications; however, there are two being the most definitive for diagnosis of FOP: congenital malformed great toes and progressive heterotopic ossification. Radiographic modalities such as diagnostic x-ray, magnetic resonance imaging (MR...

Acquired digital fibrokeratoma is an uncommon, benign fibrous tumor which usually occurs in adults as a solitary lesion. The most frequent locations are fingers and toes and the size of the tumor is generally small, around 3~5 mm. An 18-year-old female presented with a solitary, skin-colored, round and protruded nodule of the left great toe. The size of nodule was 2.5×1.6×1.4 cm. Histopathologi...

Creutzfeldt-Jakob disease (CJO) and bovine spongiform encephalopathy (BSE) belong to a distinct group of fatal transmissible degenerative encephalopathies (TOEs) of animals and humans (Table 1). The classical, sporadic form of CJO affects around one or two per million of the human population worldwide each year, causing death at a median age of around 66. However, it was reported in 1996 that 1...

hallux valgus or the lateral deviation of the great toe is a complex disease. if it is not treated, it will cause the deviation of other toes. hallux valgus is three times more common in females and may cause uncomfortable deformity of the foot, problems in putting on unsuitable and narrow toe box shoes, and pain on the medial side of the first metatarsophalangeal joint; therefore, patients see...

To cite: D’Silva A, Ash R, Gerber R. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013201610 DESCRIPTION A 19-year-old male patient presented with painful skin lesions on his hands, feet and face with concurrent central sharp chest pain. This chest pain was familiar and had occurred and subsided 3 months prior. At that time, a diagnosis of acute pericarditis ha...