Gerodermia osteodysplastica

Gerodermia osteodysplastica (pronounced: jeh-roh-der-mee-uh os-tee-oh-dys-plas-ti-ka) is a rare genetic disorder characterized by skin laxity and early onset osteoporosis. The term is derived from the Greek words "geros" meaning old, "derma" meaning skin, "osteo" meaning bone, and "dysplastica" meaning abnormal growth or development.

Symptoms

The primary symptoms of Gerodermia osteodysplastica include loose, wrinkled skin, especially on the hands and feet, and brittle bones that are prone to fractures. Other symptoms may include growth retardation, joint laxity, and facial abnormalities such as a beaked nose and prominent eyes.

Causes

Gerodermia osteodysplastica is caused by mutations in the GORAB gene. This gene provides instructions for making a protein that is involved in the transport of materials within cells. Mutations in the GORAB gene disrupt this process, leading to the characteristic features of gerodermia osteodysplastica.

Diagnosis

Diagnosis of Gerodermia osteodysplastica is based on clinical examination and confirmed by genetic testing. The presence of characteristic skin and bone abnormalities, along with a family history of the disorder, can suggest the diagnosis.

Treatment

There is currently no cure for Gerodermia osteodysplastica. Treatment is symptomatic and supportive, and may include physical therapy to improve mobility and prevent fractures, and cosmetic procedures to improve the appearance of the skin.

Prognosis

The prognosis for individuals with Gerodermia osteodysplastica varies. Some individuals may have a normal lifespan with few complications, while others may experience severe bone fractures and other health problems.

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Gerodermia osteodysplastica