Blanchet-Bardon C, Dumez Y, Nazzaro V, Mimoz C, Puissant A
Ann Dermatol Venereol. 1987;114(4):525-39.
Among the genetic disorders of the skin, the heterogeneous group of epidermolysis bullosa includes some of the most severe. Prenatal diagnosis is of considerable importance to the families who have had an affected child, or in which one of the parents is affected. The prenatal diagnosis is performed using fetoscopy and fetal skin biopsy. Fetal skin samples are taken at 20 weeks of gestation and are examined by light and electron microscopy to determine whether the fetus is affected. We report here the French experience on prenatal diagnosis of the severe inherited epidermolysis bullosae. Given the severity and frequency of Herlitz syndrome, it is not surprising that this is the most frequently encountered disease in our series of prenatal diagnosis (14 of 21 epidermolysis bullosae), followed by Hallopeau-Siemens (6 cases), and Pasini type (1 case). Our exclusion diagnosis of a Pasini fetus was the first prenatal diagnosis of this type of epidermolysis bullosa performed and reported in the literature. We stress here in this paper that observing the site of separation in the epidermal dermal junction is not sufficient to make a positive prenatal diagnosis. Prenatal diagnosis depends on the observation of the specific ultrastructural marker of the disease such as: hypoplasia and absence of hemidesmosomes and sub-basal dense plate in junctional epidermolysis bullosa-Herlitz, collagenolysis in recessive dystrophic epidermolysis bullosa-Hallopeau-Siemens, and absence and hypoplasia of anchoring fibrils in dominant dystrophic epidermolysis bullosa-Pasini. Until biochemical defects are clarified and suitable tests become available, electron microscopy remains the only current means for reliable, genetically useful, diagnosis of epidermolysis bullosa. In 62 per cent of cases of our series a prenatal diagnosis of exclusion of disease was made and we would stress that in high risk families repeated fetoscopies for prenatal diagnosis are possible in consecutive pregnancies thus allowing the family to have only normal children.
在遗传性皮肤病中，大疱性表皮松解症这一异质性疾病组包含了一些最为严重的病症。对于已有患病子女或父母一方患病的家庭而言，产前诊断至关重要。产前诊断通过胎儿镜检查和胎儿皮肤活检来进行。在妊娠20周时采集胎儿皮肤样本，并通过光学显微镜和电子显微镜进行检查，以确定胎儿是否患病。我们在此报告法国在严重遗传性大疱性表皮松解症产前诊断方面的经验。鉴于赫利茨综合征的严重性和发病率，它成为我们产前诊断系列中最常遇到的疾病并不令人惊讶（21例大疱性表皮松解症中有14例），其次是Hallopeau - Siemens型（6例）和帕西尼型（1例）。我们对帕西尼型胎儿的排除诊断是文献中首次进行并报道的此类大疱性表皮松解症的产前诊断。我们在本文中强调，仅观察表皮真皮交界处的分离部位不足以做出肯定的产前诊断。产前诊断取决于对疾病特定超微结构标志物的观察，例如：交界性大疱性表皮松解症 - 赫利茨型中半桥粒和基底膜下致密板的发育不全和缺失；隐性营养不良型大疱性表皮松解症 - Hallopeau - Siemens型中的胶原溶解；以及显性营养不良型大疱性表皮松解症 - 帕西尼型中锚定原纤维的缺失和发育不全。在生化缺陷得以阐明且合适的检测方法可用之前，电子显微镜仍然是目前可靠的、对遗传诊断有用的诊断大疱性表皮松解症的唯一手段。在我们系列病例的62%中做出了疾病排除的产前诊断，并且我们强调，在高危家庭中，连续妊娠时重复进行胎儿镜检查以进行产前诊断是可行的，从而使家庭能够只生育正常孩子。
