Hale Gordon I, Cohen Marta C, Quarrell Oliver W, McGrath John A, Messenger Andrew G
1 Department of Dermatology, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
2 Department of Histopathology, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
Pediatr Dev Pathol. 2018 Nov-Dec;21(6):580-584. doi: 10.1177/1093526618761497. Epub 2018 Mar 4.
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.
瘙痒性大疱性表皮松解症（EBP）是大疱性表皮松解症（EB）的一种罕见亚型，其特征为剧烈瘙痒，并伴有水疱以及结节状或苔藓样病变，这些病变在下肢最为明显。它是由编码VII型胶原蛋白的COL7A1基因变异引起的。受影响个体之间存在广泛的表型和基因型变异性。我们报告了一个具有EBP且呈常染色体显性遗传的家族中，COL7A1基因的同一等位基因上出现的2种潜在致病变异。迟发性EBP和不完全外显可能导致具有相同变异的受影响家庭成员出现延迟症状。EBP中观察到的广泛表型变异性表明，进一步的基因型和环境因素可能会影响症状表现。鉴于与肥厚性扁平苔藓等临床相似表现有相当大的重叠，基因和组织病理学诊断至关重要。
