Epidermolysis bullosa dystrophica: Difference between revisions

Revision as of 01:47, 17 February 2025

Epidermolysis bullosa dystrophica (EBD) is a rare genetic disorder that causes the skin to become fragile and blister easily. This condition is part of a group of disorders known as epidermolysis bullosa.

Symptoms

The main symptom of EBD is the formation of painful, fluid-filled blisters on the skin. These blisters can occur anywhere on the body, but are most common on the hands and feet. Other symptoms can include:

Nail dystrophy or loss of nails
Thickening of the skin on the palms and soles of the feet
Difficulty swallowing due to blistering in the esophagus
Dental problems such as tooth decay and gum disease
Anemia
Growth retardation in severe cases

Causes

EBD is caused by mutations in the COL7A1 gene. This gene provides instructions for making a protein that is used to assemble type VII collagen, a major component of the anchoring fibrils that attach the epidermis (the outer layer of skin) to the underlying dermis. Mutations in the COL7A1 gene disrupt the normal formation of these fibrils, leading to the fragile skin and mucous membranes characteristic of EBD.

Diagnosis

Diagnosis of EBD is usually based on the characteristic symptoms and confirmed by genetic testing. Skin biopsy may also be performed to examine the skin under a microscope and to test for the presence of type VII collagen.

Treatment

There is currently no cure for EBD. Treatment is aimed at managing the symptoms and preventing complications. This can include:

Wound care to prevent infection
Pain management
Nutritional support to prevent malnutrition
Physical therapy to maintain mobility and prevent contractures
Dental care to prevent tooth decay and gum disease

Prognosis

The prognosis for individuals with EBD varies depending on the severity of the condition. Some individuals may have a normal lifespan with mild symptoms, while others may experience severe complications and have a shortened lifespan.