PRENATAL DIAGNOSIS OF JUNCTIONAL EPIDERMOLYSIS BULLOSA
β Scribed by Eady, R.A.J.; Schofield, O.M.V.; Nicolaides, K.H.; Rodeck, C.H.
- Book ID
- 123489959
- Publisher
- The Lancet
- Year
- 1989
- Tongue
- English
- Weight
- 159 KB
- Volume
- 334
- Category
- Article
- ISSN
- 0140-6736
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Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due to life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), the
Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, wh