显性营养不良型大疱性表皮松解症一家系调查

Dominant dystrophic epidermolysis bullosa: a family investigation

报告1例显性营养不良型大疱性表皮松解症患者的家系调查结果。先证者男,43岁。双小腿水疱、丘疹伴瘙痒33年。皮损组织病理学表现为表皮下裂隙形成,真皮中上部有角质囊肿形成。该家系5代35名成员中有该病患者10例(男4例,女6例),属常染色体显性遗传。

A family investigation on dominant dystrophie epidermolysis bullosa is reported. The proband was a 43-year-old male, who presented with a 33-year history of pruritic vesicles and papules on both shins. Histopathologieal examination revealed subepidermal fissures, horny cysts in the upper and mid dermis. Out of 35 members of 5 generations in the pedigree, ten patients （4 males and 6 females） were identified, as dominant dystrophic epidermolysis bullosa.