Autosomal dominant generalized dystrophic epidermolysis bullosa

Autosomal dominant generalized dystrophic epidermolysis bullosa (ADDEB-G), also known as autosomal dominant dystrophic epidermolysis bullosa generalisata, is a hereditary skin fragility disorder belonging to the dystrophic epidermolysis bullosa (DEB) group. It is caused by heterozygous mutations in the COL7A1 gene, which encodes type VII collagen, a critical structural protein that forms anchoring fibrils at the dermal-epidermal junction. Deficiency or dysfunction of type VII collagen leads to impaired adhesion between the epidermis and dermis, resulting in skin blistering and erosions following minor mechanical trauma. The condition typically presents at birth or in early infancy with widespread (generalized) blistering of the skin. Key clinical features include skin fragility with blisters and erosions that heal with scarring, milia (small white cysts) formation, and dystrophic or absent nails. The blistering can affect the trunk, extremities, and sometimes mucosal surfaces including the oral cavity and esophagus, though mucosal involvement is generally less severe than in recessive forms of dystrophic EB. Over time, patients may develop hypertrophic or atrophic scarring. Compared to autosomal recessive dystrophic epidermolysis bullosa, the autosomal dominant generalized form tends to have a milder clinical course, though significant variability exists even within families carrying the same mutation. There is currently no cure for ADDEB-G. Management is primarily supportive and focuses on wound care, prevention of trauma and infection, pain management, and nutritional support. Careful wound dressing with non-adherent bandages is essential. Monitoring for complications such as esophageal strictures, dental abnormalities, and secondary skin infections is important. Emerging therapies including gene therapy, protein replacement therapy, and cell-based approaches are under investigation but remain largely experimental. Genetic counseling is recommended for affected individuals and their families.

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