Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review

Objective The junctional form of epidermolysis bullosa (EB) is a recessively inherited mechanobullous disease in which minimal trauma results in blister formation at the dermal–epidermal junction. A rare form associated with pyloric atresia (JEB‐PA) is a severe clinical subtype leading to rapid demi...

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Veröffentlicht in:	Prenatal diagnosis 2006-01, Vol.26 (1), p.57-59
Hauptverfasser:	Azarian, Madeleine, Dreux, Sophie, Vuillard, Edith, Meneguzzi, Guerrino, Haber, Saranda, Guimiot, Fabien, Muller, Françoise
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amniotic Fluid - chemistry Biological and medical sciences Bullous diseases of the skin Dermatology Diagnosis, Differential epidermolysis bullosa Epidermolysis Bullosa, Junctional - complications Epidermolysis Bullosa, Junctional - diagnosis Epidermolysis Bullosa, Junctional - diagnostic imaging Epidermolysis Bullosa, Junctional - embryology Epidermolysis Bullosa, Junctional - genetics Epidermolysis Bullosa, Junctional - pathology Female gastric dilatation Genetic Predisposition to Disease Gynecology. Andrology. Obstetrics Humans Management. Prenatal diagnosis maternal serum AFP Medical sciences polyhydramnios Polyhydramnios - etiology Pregnancy Pregnancy Trimester, Third Pregnancy. Fetus. Placenta Prenatal Diagnosis pyloric atresia Ultrasonography
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