期刊
DERMATOLOGIC CLINICS
卷 28, 期 1, 页码 67-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.det.2009.10.008
关键词
Genetic disease; Epidermal adhesion; Blistering disease; Generalized atrophic benign epidermolysis bullosa; Herlitz disease
类别
资金
- NIH [R01 AR048982]
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR048982] Funding Source: NIH RePORTER
Non-Herlitz junctional epidermolysis bullosa (nH JEB) is characterized by generalized blisters that predominate in sites exposed to friction, trauma, or heat. Whereas infants and children with nH JEB often appear to resemble patients with other forms of EB, adults with this disorder typically display atrophic scars, hypopigmentation, or hyperpigmentation at sites of healed blisters as well as incomplete alopecia, dystrophic nails, mucous membrane involvement, and dental abnormalities. Mild (or severe) disease early in life may be characterized by the opposite phenotype in adults with nH JEB. Although nH JEB is generally less severe than Herlitz disease, fatalities (especially in neonates) are not uncommon among patients with the former diagnosis.
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