A group of heterogeneous diseases, with more than 20 forms with variable clinical severity.
Characterized by loss of skin integrity leading to blisters and skin erosions.
Recessive dystrophic epidermolysis bullosa is one of the most severe forms, and it is caused by a loss of function mutation in the collagen type VII gene (COL7A1).
The loss of function mutation in collagen type VII (C7) gene markedly diminishes the expression of C7, a collagen at the epidermal-epidermal junction.
C7 is the primary component of the anchoring fibrils that tether the epidermal basement membrane to the dermal matrix.
With impaired C7 expression skin collagen fibrils do not form properly and normal epidermal-dermal adherence beneath the lamina densa of the basement membrane is lost.
Patients with recessive dystrophic epidermolysis bullosa experience painful skin erosions and blister formation on mucosal membranes and skin, resulting in esophageal strictures, severe scar formation, local and systemic infections, joint contractions, finger and toe fusions, and aggressive squamous cell carcinomas of the skiing.
Recessive dystrophic epidermolysis bullosa had a median survival of 55 to 65 years (Fine JD).
A variant of recessive dystrophic epidermolysis bullosa the Hallopeau-Siemens disease is associated with severe mucosal and cutaneous blistering apparent at birth and associated with the median survival of approximately 30 years.
Management of patients with recessive dystrophic epidermolysis bullosa is primarily palliative treatment of wounds.
In a study of children with recessive dystrophic epidermolysis bullosa treated with allogeneic bone marrow transplantation indicated that increased C7 deposition, was present with improved healing of wounds and reduction in blister formation and sustained presence of donor cells found in the skin with increased C7 deposition (Wagner JE).
In the above study, allogeneic bone marrow was demonstrated to partially correct the C7 deficiency and improve skin and mucosal healing in recessive dystrophic epidermolysis bullosa.