Basarab T, Dunnill M G, Eady R A, Russell-Jones R
Department of Dermatology, Ealing Hospital NHS Trust, Middlesex, England.
Pediatr Dermatol. 1997 Jul-Aug;14(4):307-11. doi: 10.1111/j.1525-1470.1997.tb00965.x.
We report an infant with Herlitz junctional epidermolysis bullosa (JEB) presenting at birth with erosions on the scalp, thigh and periumbilical area in addition to nail abnormalities. Ultrastructural studies demonstrated a split through the lamina lucida with poorly formed hemidesmosomes and no clearly defined subbasal dense plates. Indirect immunofluorescence staining with antibodies GB3 (antilaminin 5) and 19-DEJ-1 (antiuncein) was totally absent. These findings, in combination with the clinical picture, favor a diagnosis of Herlitz JEB. Immunohistochemistry findings greatly facilitated an accurate diagnosis, which is essential in view of the poor prognosis for patients with this form of junctional epidermolysis bullosa.
我们报告了一名患有赫利茨交界型大疱性表皮松解症（JEB）的婴儿，出生时头皮、大腿和脐周区域出现糜烂，同时伴有指甲异常。超微结构研究显示，透明板层出现分裂，半桥粒形成不良，且无明确界定的基底膜下致密板。使用GB3抗体（抗层粘连蛋白5）和19-DEJ-1抗体（抗纽带蛋白）进行间接免疫荧光染色，结果完全阴性。这些发现结合临床表现，支持赫利茨JEB的诊断。免疫组织化学结果极大地有助于准确诊断，鉴于这种交界型大疱性表皮松解症患者预后较差，准确诊断至关重要。
