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[家族性皮肤淀粉样变]

[Familial cutaneous amyloidosis].

作者信息

Roux M E, Grateau G

机构信息

Département de Médecine Interne, Hôpital Cochin, Paris.

出版信息

Ann Dermatol Venereol. 1993;120(2):151-6.

PMID:8363309
Abstract

Familial diseases with skin lesions of amyloidosis are numerous and diverse, including widely different entities. The most homogeneous group is the one where cutaneous amyloidosis is clinically isolated and of the lichenoid type. It is probable that in most of these forms the amyloid protein is a keratin. A genetic approach of the candidate gene type would confirm or infirm this hypothesis. In the second group of diseases the lesions of amyloidosis are associated with other genodermatoses and with two other familial diseases: Partington's disease and hereditary multiple endocrine neoplasia with cutaneous and visceral lesions. The position of amyloidosis in these different diseases varies and the mechanisms of its occurrence are unknown. The third group is that of skin amyloidosis as part of hereditary systemic amyloidosis. Future advances in this matter will rest on the characterization of the amyloid protein involved and on the discovery of genetic abnormalities responsible for these diseases.

摘要

伴有淀粉样变性皮肤损害的家族性疾病众多且多样,包括截然不同的病种。最具同质性的一组是临床孤立的苔藓样型皮肤淀粉样变性。在这些大多数类型中,淀粉样蛋白很可能是一种角蛋白。候选基因类型的遗传学方法将证实或否定这一假说。在第二组疾病中,淀粉样变性损害与其他遗传性皮肤病以及另外两种家族性疾病相关:帕廷顿病和伴有皮肤及内脏损害的遗传性多发性内分泌肿瘤。淀粉样变性在这些不同疾病中的位置各异,其发生机制尚不清楚。第三组是作为遗传性全身性淀粉样变性一部分的皮肤淀粉样变性。这方面未来的进展将取决于所涉及的淀粉样蛋白的特征鉴定以及导致这些疾病的基因异常的发现。

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