Cambiaghi S, Schiera A, Tasin L, Gelmetti C
Istituto di Scienze Dermatologiche, IRCCS Policlinico e Università di Milano, Milan, Italy.
Pediatr Dermatol. 2001 Nov-Dec;18(6):511-5. doi: 10.1046/j.1525-1470.2001.1861998.x.
Four unrelated patients born from twin pregnancies and showing extracranial aplasia cutis congenita are reported. All the patients lost their co-twins during the first half of the pregnancy. Two of the patients had the characteristic truncal and symmetrical type of aplasia cutis associated with fetus papyraceus and placental abnormalities. The presence of multiple hepatic hematomas in one of them gives further credit to a "vascular disruption" as the possible pathogenetic mechanism of the disorder. The two other patients were born with symmetrical aplasia cutis at the extensory aspects of both knees, which presumably represents a milder expression of the former defect. Thus the so-called aplasia cutis with fetus papyraceus shows heterogeneity in localization, extension, presence of extracutaneous abnormalities, and possible association with fetus papyraceus at birth. To include all the patients affected by this peculiar type of aplasia cutis congenita, the designation of aplasia cutis with extracranial symmetrical involvement is proposed.
本文报告了4例来自双胎妊娠、患有先天性头皮外胚层发育不全的非亲缘关系患者。所有患者在妊娠前半期失去了其双胎之一。其中2例患者具有典型的躯干型和对称性头皮发育不全,伴有纸样胎儿和胎盘异常。其中1例患者存在多发性肝血肿,这进一步支持了“血管破坏”作为该疾病可能的发病机制。另外2例患者出生时双侧膝关节伸侧出现对称性头皮发育不全,这可能代表了前一种缺陷的较轻表现形式。因此,所谓的伴有纸样胎儿的头皮发育不全在定位、范围、皮肤外异常的存在以及出生时与纸样胎儿的可能关联方面表现出异质性。为了涵盖所有受这种特殊类型先天性头皮发育不全影响的患者,建议将其命名为伴有颅外对称性受累的头皮发育不全。