| Main clinical features
|
generalized or localized, severe pruritus
skin fragility disorder associated with anchoring fibril abnormalities and sublamina densa blistering, with nail dystrophy, skin atrophy and milia formation
excoriated and lichenified papules, nodules, and plaques associated with scarring on the skin, foot dorsum, elbows, wrists, and back
pruritis occurred at puberty or in adulthood
severe, generalized, and unresponsive to conventional therapies
skin biopsies showed deposition of variable amounts of collagen VII at the dermal-epidermal junction |