A 2-year-old girl was referred to our department for skin fragility
since early infancy. She had 2 older brothers, and the family had no medical
history of note. Physical examination revealed mild xerosis with superficial skin
erosions and erythematosus residual macules from previous erosions. Some of the
lesions had an unusual linear geographic contour and were predominantly located
at areas of friction (Figure, A and B). Hair, nails, and mucous membranes were
normal. There was no history of blistering. The mother explained that she often
found the child peeling off skin with marked facility. Symptoms improved in winter
and worsened in summer. Physical and mental developments were normal.
Serological markers for celiac disease were negative. A skin biopsy was
performed (Figure, C).
患者2岁女童，自婴儿时期脆性皮肤就诊皮肤科。患者有2个哥哥，无明显家族史。体格检查发现有轻度干燥症，伴浅表皮肤糜烂及先前糜烂遗留红斑。一些皮损呈不寻常的线性分布，主要见于摩擦区（图A和B）。头发、指甲和粘膜未见异常。患者无起疱史。其母述，经常发现患者脆性皮肤剥脱。且冬季症状改善，夏季症状恶化。患者身心发展正常。腹腔疾病血清学检查呈阴性。进行皮肤活检（图C）。