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非豪茨交界型大疱性表皮松解症。

Non-herlitz junctional epidermolysis bullosa.

机构信息

Department of Dermatology, University of Texas Southwestern Medical Center in Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75390-9069, USA.

出版信息

Dermatol Clin. 2010 Jan;28(1):67-77. doi: 10.1016/j.det.2009.10.008.

Abstract

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.

摘要

非赫勒利茨型交界型大疱性表皮松解症(nH JEB)的特征是全身性水疱,主要出现在易受摩擦、创伤或热的部位。nH JEB 患儿和婴幼儿通常与其他类型 EB 患者相似,但该病成人患者在愈合水疱的部位常出现萎缩性瘢痕、色素减退或色素沉着、不完全性脱发、营养不良性指甲、黏膜受累和牙齿异常。nH JEB 成人在生命早期的轻度(或重度)疾病可能具有相反的表型。尽管 nH JEB 通常比赫勒利茨型疾病轻,但前者患者也常有死亡(尤其是新生儿)。

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