A woman in her 40s presented with a 30-year history of intensely itchy eruptions affecting her legs and forearms, resistant to standard treatments. Physical examination revealed scaly lichenoid papules, with significant findings including dystrophic toenails and a medical history involving a biopsy that identified perivascular lichenoid inflammation. A new biopsy confirmed a diagnosis of epidermolysis bullosa pruriginosa (DEB-P) through genetic testing for the COL7A1 gene variant. Treatment with gabapentin and dupilumab yielded significant symptomatic improvement, emphasizing the complex nature of this rare genetic disorder.
Source: JAMA Dermatology