Three Cases of Recessive Dystrophic Epidermolysis Bullosa-mitis / 대한피부과학회지

ABSTRACT

Recessive dystrophica epidermolysis bullosa(RDEB) is rare, chronic non - inflammatory bullous disease of hereditary trait, which produces blister formation in early childhood. A localized, less severe form, often called RDEB-mitis, occurs at birth and usually involves the acral areas, with atrophic scarring of the joint surfaces and nail dystrophy but little mucosal involvement. Severe RDEB is a multilating disease, known also as the Hallopeau-Siemens (HS) varient. We report three cases which developed at birth and infancy, respectively. Bullae, atrophic scars were noted on the knees and ankles, and milia on the both hands and feet. Histologically, sections from the old blister lesion showed characteristic separation of the epidermis from the dermis forming bulla. Identification of the mutations COL7A1 gene was revealed by direct sequencing of each exon. We present three cases of RDEB-mitis considering the abscence of family history with clinical, histological and molecular analysis findings.