Recessive dystrophic epidermolysis bullosa inversa (RDEB-inversa) is a rare, inherited skin disorder that causes blistering and scarring of the skin. It is caused by mutations in the COL7A1 gene, which is responsible for producing type VII collagen, a protein that helps form the anchoring fibrils that attach the epidermis to the dermis. Without these anchoring fibrils, the skin is unable to withstand the normal forces of friction and shear, resulting in blistering and scarring. RDEB-inversa is a severe form of epidermolysis bullosa (EB), a group of genetic skin disorders that cause blistering of the skin and mucous membranes.

The symptoms of Recessive dystrophic epidermolysis bullosa inversa (RDEB-inversa) include:

- Blistering of the skin, especially in areas of friction or trauma

- Thickening and hardening of the skin

- Scarring of the skin

- Loss of skin pigmentation

- Nail deformities

- Joint contractures

- Muscle weakness

- Difficulty swallowing

- Difficulty breathing

- Eye problems, such as corneal ulcers or scarring

- Gastrointestinal problems, such as difficulty digesting food or chronic diarrhea

- Anemia

- Increased risk of skin cancer

Recessive dystrophic epidermolysis bullosa inversa (RDEB-inversa) is caused by mutations in the gene encoding the protein laminin-332 (LAMB3). Mutations in this gene lead to a deficiency of laminin-332, which is a major component of the basement membrane that anchors the epidermis to the underlying dermis. This deficiency results in the formation of blisters and erosions in the skin and mucous membranes.

1. Topical treatments: These include topical antibiotics, topical steroids, and topical retinoids.

2. Systemic treatments: These include systemic antibiotics, systemic steroids, and immunosuppressants.

3. Phototherapy: This involves exposing the affected area to ultraviolet light.

4. Surgery: This may be used to remove blisters or to graft healthy skin onto the affected area.

5. Gene therapy: This involves introducing a healthy gene into the affected area to replace the mutated gene.

6. Stem cell therapy: This involves using stem cells to replace the damaged skin cells.

1. Genetic mutation: Recessive dystrophic epidermolysis bullosa inversa is caused by a mutation in the gene encoding type VII collagen.

2. Family history: Individuals with a family history of the condition are at an increased risk of developing the condition.

3. Age: The condition is more common in adults than in children.

4. Gender: Recessive dystrophic epidermolysis bullosa inversa is more common in males than in females.

5. Ethnicity: The condition is more common in individuals of Mediterranean descent.

At this time, there is no cure for Recessive Dystrophic Epidermolysis Bullosa Inversa (RDEB-I). However, there are medications and treatments available to help manage the symptoms and improve quality of life. These include topical medications, systemic medications, and surgical treatments. Topical medications can help reduce inflammation and itching, while systemic medications can help reduce the risk of infection and improve wound healing. Surgical treatments can help reduce the risk of skin cancer and improve the appearance of the skin.