recessive dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is a hereditary skin-fragility disorder that also involves mucous membranes and several internal organs. It results from alterations in the COL7A1 gene, which provides instructions for making type VII collagen, the "anchoring" protein that holds the upper and lower layers of skin together. The condition usually becomes apparent at birth or in early infancy and affects people of all sexes. It is considered rare, occurring in roughly one to nine individuals per million. Early recognition and coordinated, lifelong care can help reduce complications and improve comfort.

Skin findings dominate the clinical picture. Infants typically develop widespread blisters and fragile skin with even minor friction, and healing leads to atrophic scarring and persistent open wounds. The nails may be thickened, misshapen, or entirely absent, and coarse hair, patchy scalp changes, and chronic pain are common. Mucosal and internal involvement adds complexity. Recurrent blisters occur inside the mouth, esophagus, and other parts of the digestive tract, contributing to feeding difficulties, dental cavities, gastroesophageal reflux, and gastrointestinal inflammation. Scar tissue can also cause joint contractures, especially of the hands and feet, limiting movement over time. Less commonly, eye irritation, urinary problems, dilated cardiomyopathy, and low carnitine levels are reported. Emotional and psychological challenges such as anxiety or depression may arise in response to chronic pain and ongoing medical needs. Not all individuals experience every feature, and severity varies considerably from one person to the next.

RDEB-sev gen is caused by pathogenic variants in the COL7A1 gene. This gene encodes type VII collagen, a protein that forms anchoring fibrils responsible for tying the outer epidermis to the underlying dermis; without functional collagen VII, the skin and mucous membranes separate easily, producing blisters. The disorder follows an autosomal recessive inheritance pattern. Affected individuals inherit two non-working copies of COL7A1, one from each parent, who are usually healthy carriers. When both parents carry a COL7A1 variant, each pregnancy carries a 25 percent chance of producing an affected child, a 50 percent chance of producing a carrier, and a 25 percent chance of producing an unaffected non-carrier. Because this condition requires two altered copies, it may occur more often in families where parents share a common ancestor, since they are more likely to carry the same rare variant. Carrier testing and genetic counseling provide families with information about their own risks and reproductive options.

Currently, management focuses on supportive care and symptom control, tailored to each person’s needs. Daily gentle wound care, non-adherent dressings, prevention of friction, aggressive pain management, and treatment of infections form the cornerstone of care. Nutritional support, iron supplementation for anemia, and dental care help maintain overall health. Physical and occupational therapy aim to preserve mobility and slow the progression of joint contractures. Because many body systems can be affected, long-term management includes regular surveillance for potential complications. Recommended monitoring often involves tracking nutritional status, screening for iron-deficiency anemia, assessing growth in children, evaluating joint range of motion, and watching for signs of cardiac or ocular involvement. Multidisciplinary follow-up with dermatology, gastroenterology, nutrition, dentistry, pain specialists, and mental health professionals provides comprehensive support. No therapies are currently approved specifically for RDEB-sev gen, but numerous investigational approaches—such as gene, cell, and protein replacement therapies—are in development. Patients should discuss available care strategies and research opportunities with their healthcare team and consider enrollment in expert centers familiar with epidermolysis bullosa.

The long-term outlook depends on the frequency of blistering, severity of scarring, and success in preventing secondary complications such as infection, malnutrition, or organ involvement. Some individuals experience relentless skin damage and progressive contractures, whereas others achieve better stability with meticulous wound care and comprehensive support. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialized centers and disease-specific registries that track health trends and offer access to emerging therapies. Genetic counseling can also guide family planning and provide psychosocial support.

RDEB-sev gen is an active area of investigation, with numerous ongoing clinical trials exploring gene therapy, protein replacement, and novel wound-healing products. Individuals interested in participating can search ClinicalTrials.gov or consult their care team about eligibility and enrollment criteria.