Posts

Showing posts with the label rare case

Osteogenesis imperfecta

Image
Synonyms Brittle bone disease. Lobstein syndrome. fragilitas ossium. Vrolik disease. Characteristically blue sclerae of patient with osteogenesis imperfecta. The classic blue sclerae of a person with osteogenesis imperfecta medical genetics osteology Symptoms Bones that break easily. blue tinge to the whites of the eye, short height. loose joints. hearing loss. Duration Long term CausesGenetic (autosomal dominant, new mutation) Diagnostic method Based on symptoms. DNA testing. Treatment Healthy lifestyle (exercise, no smoking), metal rods through the long bones PrognosisDepends on the type Frequency1 in 15,000 people Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe.Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems, and problems with...

Large cogenital melanocytic nevus.

Image
cause any symptoms Congenital melanocytic naevi are usually asymptomatic, however, some may be itchy, particularly larger lesions. It is thought there may be reduced function of sebaceous (oil) and eccrine (sweat) glands, which may result in skin dryness and a heightened sensation of itch. The overlying skin may become fragile and erode or ulcerate. Deep nests of melanocytes in the dermis may weaken the bonds between the epidermis and the dermis and account for skin fragility. Congenital melanocytic naevi are often unsightly, especially when extensive, ie large or giant congenital melanocytic naevi. They may therefore result in anxiety and impaired self image, especially when the lesions are in visible areas. Giant melanocytic naevi, and to a lesser degree small lesions, are associated with increased risk of developing cutaneous melanoma, neurocutaneous melanoma and rarely other tumours (see below). causes congenital melanocytic naevi . Congenital melanocytic naevi are caused by ...