Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Last Updated on June 17, 2025 by Joseph Gut – thasso

The current standard of care is limited to management of the condition. EB blisters are not self-limiting and get bigger until the skin roof shears off, so blisters need to be pricked with a hypodermic needle and flattened. Wounds and body parts are covered extensively with special non-stick bandages which can cost thousands of pounds per month. Dressing changes can take between four and five hours per day and take a terrible toll on the sufferer as they are always painful.

The progressive nature of RDEB leads to scarring and contractures. In real terms, this means hugely reduced mobility, fusing of the fingers and toes causing mitten deformities (pseudosyndactyly), small mouth opening (microstomia), and therefore significant disability. Most sufferers are wheelchair reliant by their teenage years. Doctors begin to look for skin cancer in the late teens. After years of skin damage and pain, the majority of sufferers will succumb to a malignant skin cancer, Squamous Cell Carcinoma, before the age of thirty-five. Aggressive and usually fatal skin cancers develop in areas of scarring and chronic wounds.

Junctional Epidermolysis Bullosa (JEB)

Junctional epidermolysis bullosa is recessively inherited and involves mutations in the genes for several components of the junction within the basement membrane zone (lamina lucida) between the epidermis (upper layer of skin) and dermis (lower layer of skin).  It is a rare form and accounts for 5% of total EB cases.

JEB most commonly results from mutations in the Lama3, Lam3, Lamc2 and Col17A1 genes. Lam3 are the most common causing about 70% of all cases of junctional EB.

Researchers classify JEB into two main types – JEB generalised severe (formerly known as Herlitz junctional) and JEB intermediate (formerly known as Non Herlitz junctional).

JEB generalised severe

This JEB subtype is due to mutations in any of the laminin 332 chains and can be very severe. Death often occurs in infancy due to overwhelming infection (sepsis), malnutrition, dehydration, electrolyte imbalance, pyloric atresia (obstruction of the lower part of the stomach), or obstructive airway complications.

JEB intermediate

This is the less severe form of JEB where blistering may be confined to hands and feet, knees and elbows. Other features include hair loss, abnormal fingernails and toenails and irregular teeth enamel. Typically this form of EB can be associated with a normal life span.

Approved recent genetic-based Treatments

Recently, the FDA has approved Prademagene Zamikeracel (pz-cel), also known as Zevaskyn, the first autologous, cell-based gene therapy for recessive dystrophic epidermolysis bullosa (RDEB). This landmark approval represents a significant breakthrough for patients suffering from this devastating skin disorder.

RDEB is a rare genetic condition in which patients lack functional Type VII collagen due to mutations in the COL7A1 gene. That results in extremely fragile skin that blisters easily, leading to painful chronic wounds, increased infection risk, and elevated skin cancer risk. Until recently, treatment options have been limited to wound care and pain management rather than addressing the underlying genetic cause. In 2023, however, FDA approved the gene therapy Vyjuvek, a topical gel that is applied weekly to the skin and contains a modified HSV-1 vector expressing COL7A1.

See here a sequence with little Rowan and her parents:

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