Autosomal dominant dystrophic epidermolysis bullosa, Pasini type

Autosomal dominant dystrophic epidermolysis bullosa, Pasini type (also known as DDEB-Pasini, or dystrophic epidermolysis bullosa albopapuloidea) is a rare inherited skin fragility disorder caused by mutations in the COL7A1 gene, which encodes type VII collagen — a critical structural protein that anchors the epidermis to the underlying dermis. The hallmark feature distinguishing the Pasini subtype from other forms of dominant dystrophic epidermolysis bullosa is the development of albopapuloid lesions, which are small, white or skin-colored papules that appear on the trunk, typically during adolescence or early adulthood, in areas not necessarily associated with prior blistering or trauma. Patients experience skin blistering from birth or early infancy, particularly at sites of friction or minor mechanical trauma. Blisters heal with scarring and milia (small white cysts) formation. The nails are frequently dystrophic or absent, and mucous membranes, particularly the oral cavity and esophagus, may also be affected, potentially leading to difficulty swallowing. The severity is generally milder than recessive forms of dystrophic epidermolysis bullosa, but the chronic nature of wound formation and scarring can significantly impact quality of life. There is currently no cure for this condition. Management is supportive and focuses on wound care, prevention of trauma and infection, nutritional support, and monitoring for complications such as esophageal strictures. Careful bandaging techniques and protective measures help minimize blister formation. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern, meaning each child of an affected individual has a 50% chance of inheriting the condition.

Common questions about Autosomal dominant dystrophic epidermolysis bullosa, Pasini type