PMID: 8964956Jan 1, 1996Paper

Prenatal diagnosis of hereditary bullous epidermolysis. A case report

Journal de gynécologie, obstétrique et biologie de la reproduction
Y AubardB Gilbert

Abstract

A premature infant born to a consanguinous couple (mother's age = 27 years) presented Hallopeau-Siemens disease and died at 3 weeks. At a second pregnancy, fetal skin biopsies at 21 weeks gestation demonstrated the absence of the disease. The fetus died in utero at 31 weeks of an unknown cause. A third pregnancy was carried to term successfully and terminated by delivery of a normal infant. Unlike most hereditary bullous epidermolyses, the severe prognosis of Hallopeau-Siemens disease justifies antenatal diagnosis as does Herlitz disease, another familial disease. Fetal skin biopsy at 21 weeks is classically performed, but localization of the genetic abnormalities would suggest that a simple trophoblast biopsy during the first trimester may be sufficient.

Related Concepts

Related Feeds

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Dermatology : International Journal for Clinical and Investigative Dermatology
H ShimizuT Nishikawa
Annales de dermatologie et de vénéréologie
C Blanchet-BardonA Puissant
Ceskoslovenská patologie
P Mirejovský
Journal de gynécologie, obstétrique et biologie de la reproduction
A CherifS Boukef-Largueche
© 2021 Meta ULC. All rights reserved