Genetic Blistering Diseases

Squamous cell carcinoma complicating epidermolysis bullosa in a 6‐year‐old girl

“…Recessive dystrophic epidermolysis bullosa (RDEB), one of the severe forms of EB, presents at birth with generalized blistering. The skin may be very fragile and blisters are easily induced by frictional trauma; they heal with scarring and milia formation 2–4 …”

Linear perforating lesions in dystrophic epidermolysis bullosa: Is it Koebner′s phenomenon?

“…[3] The essential feature of dominant DEB is that the skin is generally less fragile than the recessive type, and blisters mostly develop over bony prominences (such as the knees and ankles, and dorsa of the hands or feet) following sharp blows. [2] The Cockayne-Touraine variety of dominant DEB is usually localized only to the extremities and is the milder expression of the blistering disease process, while the Pasini variant has more intense blistering and is more generalized. [3] The most consistent findings of DEB are localized scarring with milia formation and dystrophic nails.…”

“…[3] The most consistent findings of DEB are localized scarring with milia formation and dystrophic nails. [2] Nail dystrophy is probably the most important diagnostic feature of the disease. [2] Perforating disorders are a group of disorders characterized by extrusion of altered dermal components through a transepithelial channel.…”

“…[2] Nail dystrophy is probably the most important diagnostic feature of the disease. [2] Perforating disorders are a group of disorders characterized by extrusion of altered dermal components through a transepithelial channel. [4] There are four primary perforating disorders, i.e.…”

“…Besides the typical skin lesions, the dominant DEB may also have congenital absence of skin (Bart syndrome), atopic dermatitis, prurigo-like nodules, and albo-papuloid lesions. [2] The presence of perforating skin lesions in patients with DEB is unknown in the English literature. We hereby report a case of dominant DEB showing linearly disposed perforating lesions at various body sites and propose a plausible hypothesis for such occurrence.…”