Recessive dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder that affects the skin and other organs. It is characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This condition is a subtype of Epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.

Genetics

RDEB is caused by mutations in the COL7A1 gene, which provides instructions for making a protein used to assemble type VII collagen. Collagen provides structure and strength to the connective tissues that hold the body's cells, organs and tissues together. Mutations in the COL7A1 gene prevent the formation of type VII collagen or result in the production of an abnormal version of this protein. Without enough functional type VII collagen, the skin layers separate, which leads to the formation of blisters.

Symptoms

The symptoms of RDEB can vary widely among individuals. The most common symptom is the formation of painful, itchy blisters on the skin. These blisters can lead to the development of scars, changes in skin coloring (pigmentation), and hair loss (alopecia). Other symptoms can include changes in the nails, blistering in the mouth and throat, and difficulty swallowing (dysphagia).

Diagnosis

The diagnosis of RDEB is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and specialized tests. These tests can include skin biopsy, genetic testing, and immunofluorescence mapping.

Treatment

There is currently no cure for RDEB. Treatment is aimed at managing the symptoms and includes wound care, pain management, and nutritional support. In some cases, surgery may be necessary to manage severe complications.

See also

• Epidermolysis bullosa
• Genetic disorder
• COL7A1