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
Japanese guidelines for diagnosis and treatment of junctional and dystrophic epidermolysis bullosa
β Scribed by Katsuto Tamai; Isao Hashimoto; Katsumi Hanada; Shigaku Ikeda; Sadao Imamura; Hideoki Ogawa
- Publisher
- Springer-Verlag
- Year
- 2003
- Tongue
- English
- Weight
- 148 KB
- Volume
- 295
- Category
- Article
- ISSN
- 0340-3696
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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
The diagnostic hallmark of the dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering skin diseases, is abnormalities in the anchoring fibrils at the dermal-epidermal basement membrane zone. Since type VII collagen is the major, if not the exclusive, component of the anchor