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重型赖特鱼鳞病:一种耳科 - 皮肤科综合征(作者译)

[Ichthyosis hystrix gravior typus Rheydt: an otologic-dermatologic syndrome (author's transl)].

作者信息

Gülzow J, Anton-Lamprecht I

出版信息

Laryngol Rhinol Otol (Stuttg). 1977 Nov;56(11):949-55.

PMID:145534
Abstract

A case of congenital ichthyosis hystrix gravior combined with non-progressive inner ear hearing loss bordering on deafness is reported. None of the syndromes of keratinization disturbances combined with hearing loss of the inner ear known up to now is comparable. The patient was examined by the dermatologic and otorhino-laryngologic clinics. The findings were presented at the "Südwestdeutschen Dermatologen-Kongress in Heidelberg 1976". Particular otologic findings were a non-progressive inner ear hearing loss bordering on deafness, a fungus-covered cell detritus in the cartilaginous part of the external ear canal, and hyperkeratosis of the auricula. Specific dermatologic findings were skin hyperkeratoses most prominent on face and extremities. In it's ultrastructure, this type is basically different from all other types of inherited ichthyoses that have been studied by electron microscopy. Combined with a lack of normal tonofilaments, an unusual synthesis of large amounts of mucous granules is present under the large spines that is not normally found in healthy skin. No other members of the family are affected.

摘要

报告了一例重症先天性豪猪状鱼鳞病合并接近耳聋的非进行性内耳听力损失病例。目前已知的任何角化障碍综合征合并内耳听力损失的情况均与之不同。该患者由皮肤科和耳鼻喉科诊所进行了检查。检查结果在“1976年海德堡西南德国皮肤科医生大会”上进行了展示。特殊的耳科检查结果为接近耳聋的非进行性内耳听力损失、外耳道软骨部分有真菌覆盖的细胞碎屑以及耳廓角化过度。具体的皮肤科检查结果为面部和四肢最为明显的皮肤角化过度。在超微结构上,该类型与通过电子显微镜研究的所有其他遗传性鱼鳞病类型基本不同。除了缺乏正常张力丝外,在大棘突下还存在大量黏液颗粒的异常合成,这在健康皮肤中通常不会出现。该家族中没有其他成员受影响。

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