Summary about Disease
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe and rare genetic skin disorder characterized by extremely fragile skin that blisters and tears easily from minor friction or trauma. This blistering can occur both on the surface of the skin and within internal tissues and organs. RDEB is caused by mutations in the COL7A1 gene, which provides instructions for making type VII collagen, a protein that forms anchoring fibrils necessary for holding the epidermis (outer layer of skin) to the dermis (inner layer of skin). The lack of functional type VII collagen leads to separation of these skin layers and blister formation.
Symptoms
Severe blistering of the skin, especially on hands, feet, elbows, and knees.
Blistering can occur internally in the mouth, esophagus, and other areas.
Scarring after blisters heal, leading to contractures (tightening) of joints and fusion of fingers and toes (pseudosyndactyly).
Nail dystrophy (abnormal nail growth) or complete nail loss.
Dental problems, including enamel hypoplasia and increased risk of cavities.
Eye problems, such as corneal blisters and scarring.
Anemia (low red blood cell count).
Difficulty swallowing (dysphagia) due to esophageal strictures.
Increased risk of skin cancer (squamous cell carcinoma) in areas of chronic wounding and scarring.
Growth retardation and malnutrition due to difficulties with eating and nutrient absorption.
Causes
RDEB is caused by mutations in the COL7A1 gene. This gene provides instructions for making type VII collagen. Because RDEB is recessive, an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If an individual inherits only one mutated copy, they are a carrier but typically do not show symptoms.
Medicine Used
There is currently no cure for RDEB. Treatment focuses on managing symptoms and preventing complications:
Pain Management: Analgesics (pain relievers) are used to manage pain associated with blistering and wound care.
Wound Care: Regular wound care is essential to prevent infection and promote healing. This includes cleansing blisters, draining fluids, applying non-adherent dressings, and bandaging.
Nutritional Support: High-calorie, high-protein diets are necessary to support growth and healing. Feeding tubes may be required in severe cases of esophageal strictures or swallowing difficulties.
Antibiotics: Antibiotics are used to treat bacterial infections in wounds.
Iron Supplements: Iron supplements are used to treat anemia.
Surgery: Surgical interventions may be necessary to release contractures, separate fused fingers and toes, or widen esophageal strictures.
Gene Therapy: Experimental gene therapy approaches are under investigation to correct the genetic defect.
Stem Cell Transplantation: Stem cell transplantation can improve symptoms in some cases.
Is Communicable
No. RDEB is not communicable. It is a genetic disorder caused by inherited gene mutations and cannot be spread from person to person.
Precautions
Gentle Handling: Handle individuals with RDEB with extreme care to minimize friction and trauma to the skin.
Protective Clothing: Use soft, loose-fitting clothing to avoid rubbing and irritation.
Proper Bandaging: Use non-adherent dressings and gentle wrapping techniques.
Environmental Control: Maintain a cool, humid environment to minimize sweating and skin dryness.
Footwear: Use well-padded shoes or slippers.
Avoid Harsh Chemicals: Avoid using harsh soaps, detergents, or cleaning products that can irritate the skin.
Sun Protection: Protect skin from sun exposure with sunscreen and protective clothing.
Infection Control: Practice meticulous hygiene to prevent wound infections.
Dental Care: Regular dental visits and gentle oral hygiene are important to prevent dental problems.
How long does an outbreak last?
RDEB is not characterized by "outbreaks." The blistering and skin fragility are chronic and ongoing conditions. While the severity of blistering may fluctuate, the underlying genetic defect is always present. Acute exacerbations (flare-ups of blistering) can occur due to increased friction, trauma, or infection, but the condition itself is persistent.
How is it diagnosed?
Clinical Examination: Based on the characteristic blistering and skin fragility.
Skin Biopsy: A small sample of skin is examined under a microscope to assess the structure of the skin and the presence or absence of type VII collagen using immunofluorescence mapping.
Genetic Testing: Blood test to identify mutations in the COL7A1 gene. This confirms the diagnosis and helps with genetic counseling.
Timeline of Symptoms
At Birth/Early Infancy: Blistering is usually present at birth or develops shortly thereafter.
Infancy/Childhood: Blistering continues, leading to scarring, contractures, nail dystrophy, and dental problems. Nutritional deficiencies may develop.
Adolescence/Adulthood: Chronic wounding, increased risk of skin cancer, esophageal strictures, and anemia become more prevalent. Quality of life is significantly impacted.
Important Considerations
RDEB requires a multidisciplinary approach involving dermatologists, pediatricians, surgeons, dentists, nutritionists, and other specialists.
Pain management is a critical aspect of care.
Psychological support is essential for individuals with RDEB and their families.
Early diagnosis and proactive management can improve outcomes and quality of life.
Genetic counseling is important for families with a history of RDEB.
Research into new therapies, including gene therapy and stem cell transplantation, is ongoing.