摘要
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.
出处
《临床皮肤科杂志》
CAS
CSCD
北大核心
2009年第1期31-32,共2页
Journal of Clinical Dermatology
关键词
表皮松解症
大疱性
营养不良型
家系调查
显性遗传
epidermolysis bullosa, dystrophica
investigation, family
inheritance, dominant