Localized dystrophic epidermolysis bullosa, acral form

Localized dystrophic epidermolysis bullosa, acral form (also known as acral dystrophic epidermolysis bullosa or dystrophic EB, pretibial type in some classifications) is a rare inherited skin fragility disorder belonging to the dystrophic epidermolysis bullosa (DEB) spectrum. It is caused by 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 blistering and skin erosions predominantly affecting the acral (distal extremity) areas such as the hands and feet. Clinically, this form of DEB is characterized by mechanically induced blisters, erosions, and scarring that are largely confined to the hands, feet, and sometimes the nails. Nail dystrophy is a common feature, and milia (small white cysts) may develop at sites of healed blisters. Unlike more severe generalized forms of dystrophic epidermolysis bullosa, the acral form tends to have a milder course with limited skin involvement and generally does not affect mucosal surfaces or internal organs to a significant degree. However, repeated trauma to the extremities can lead to progressive scarring and functional impairment over time. There is currently no cure for localized dystrophic epidermolysis bullosa, acral form. Management is primarily supportive and focuses on wound care, prevention of trauma and infection, and protection of vulnerable skin areas. Careful bandaging, use of padded footwear, and avoidance of friction are important preventive strategies. Wound infections should be treated promptly with appropriate antibiotics. Genetic counseling is recommended for affected individuals and their families. Research into gene therapy, protein replacement therapy, and other molecular approaches for dystrophic EB is ongoing but has not yet yielded approved treatments specific to this subtype.

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