[Prenatal diagnosis of hereditary bullous epidermolysis. A case report].
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.
Aubard
Y
Y
Service de Gynécologie-Obstétrique I, CHU Dupuytren, Limoges.
Genet
C
C
Bedane
C
C
Gilbert
B
B
D000328:Adult; D000649:Amniocentesis; D001706:Biopsy / Q000379:methods; D015193:Chorionic Villi Sampling; D003241:Consanguinity; D016108:Epidermolysis Bullosa Dystrophica / Q000145:classification / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*
Le diagnostic anténatal des épidermolyses bulleuses héréditaires. A propos d'un cas.