Fryburg J S, Greer K E
Department of Pediatrics, University of Virginia Health Science Center, Charlottesville 22908.
J Med Genet. 1993 Nov;30(11):962-3. doi: 10.1136/jmg.30.11.962.
The case of a neonate with cutaneous lesions consistent with epidermal naevi is presented. In addition to typical epidermal naevi, this baby had an unusual, bullous form of aplasia cutis congenita. Although aplasia cutis has been described as bullous and has been found in association with the epidermal naevus syndrome, both of these occurrences are rare in medical publications. This case illustrates an unusual presentation of epidermal naevi with bullous aplasia cutis congenita and raises difficult diagnostic and counselling issues.
本文报告了一例患有与表皮痣相符的皮肤病变的新生儿病例。除了典型的表皮痣外，该婴儿还患有一种不寻常的大疱性先天性皮肤发育不全。尽管先天性皮肤发育不全已被描述为大疱性，且已发现与表皮痣综合征相关，但这两种情况在医学文献中均很少见。该病例说明了表皮痣合并大疱性先天性皮肤发育不全的一种不寻常表现，并提出了诊断和咨询方面的难题。
