[Prenatal diagnosis of a case of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa].
Fetal dystrophic recessive epidermolysis bullosa of the Hallopeau-Siemens type (EBdr-HS) was prenatally diagnosed in a couple at risk whose previous child was severely affected of the same disorder. Prenatal diagnosis was made at 18 weeks of gestation by ultrastructural examination of fetal skin samples obtained under continuous ultrasonic guidance. Four of the five specimens obtained showed dermal epidermal separation under the lamina densa with athophic and rare anchoring fibrils and superficial collagenolysis. The parents decided to terminate the pregnancy and ultrastructural skin examination of the aborted fetus, performed in multiple sites including the scalp, trunk, abdomen and limbs, confirmed the diagnosis showing no regional variation in the expression of the ultrastructural marker.
Nazzaro
V
V
Nicolini
U
U
Ermacora
E
E
Buscaglia
M
M
Caputo
R
R
D001707:Biopsy, Needle; D004820:Epidermolysis Bullosa / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000473:pathology; D014463:Ultrasonography
Diagnosi prenatale di un caso di epidermolisi bollosa distrofica recessiva di Hallopeau-Siemens.