Prenatal diagnosis of bullous ichthyosiform erythroderma: Detection of tonofilament clumps in fetal epidermal and amniotic fluid cells

Galliera Hospital, Genova, Liguria, Italy
Journal of Medical Genetics (Impact Factor: 6.34). 03/1986; 23(1):46-51. DOI: 10.1136/jmg.23.1.46
Source: PubMed


The prenatal diagnosis of bullous ichthyosiform erythroderma (BIE) has been achieved at 20 weeks' gestation by electron microscopic identification of a pathognomonic cytoskeletal abnormality within fetal epidermal cells obtained by fetoscopic skin biopsy. The same abnormality was also observed in skin derived amniotic fluid cells. The question whether amniocentesis might be used instead of fetoscopy for future prenatal detection of BIE is discussed.

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Available from: Robin A J Eady
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