| Objective: A family with Epidermolysis Bullosa Dystrophica, a disease of autosomal dominant interitance, was investigated. Its characteristics of clinical manifestation and histopathology are summarized and distinguished from other similar diseases. The aim to do that is to improve dermatologists to know more about Epidermolysis Bullosa Dystrophica, reduce misdiagnosis and blind treatment, and to the further research for this disease.Methods: Analyze and summarize the patient's clinical medical record, observe its characteristics of histopathology by HE stain and immunohistochemical stains, and make the pedigree of the family with Dystrophic Epidermolysis Bullosa Dominant.Results: Six patients ( 2 males and 4 females ) in 45 members of 4 generations are indentified on the pedigree. The age of onset is 5～17 years old. The characteristics of this case are the prevalence of this disease is unrelated to sex , and they are not the generational genetic, the normal family members who get married with normal people, their children do not to be involved in. The proband is a 27-year-old female who had several vesicles at both ankles originally when she was five years old. Gradually her skin lesions manifested as flesh-colored , scarlike lesions. Histopathologic examination demonstrated a subepidermal blister with many expanding hair follicles in intro-dermis. A direct immunofluorescence test have not showed deposits of IgG, IgA, IgM, C3, C1q at the basement membrane zone or between the prickle cells. With PAS dyeing, we can not see the abnormal deposit.Conclusions: The diagnosis of Pasini Epidermolysis Bullosa is confirmed with obvious characteristics of skin lesion, histopathology and immunopathology. It is a rare type of Epidermolysis Bullosa characteristiced with white papules. Dermatologists should know more about it, reduce misdiagnosis and distinguishe from other similar diseases.
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