Prenatal Diagnosis of Bullous Ichthyosiform Erythroderma: Detection of Tonofilament Clumps in Fetal Epidermal and Amniotic Fluid Cells

Overview

Journal J Med Genet

Specialty Genetics

Date 1986 Feb 1

PMID 3512829

Citations 1

Authors

R A Eady

D B Gunner

L D Carbone

F D Bricarelli

C M Gosden

C H Rodeck

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.

Cadrin C, Golbus M West J Med. 1993; 159(3):269-72.

PMID: 8236968 PMC: 1011339.

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