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金德勒综合征:一例罕见病例报告。

Kindler's syndrome: A rare case report.

作者信息

Suman Neelam, Kaur Simrat, Kaur Supreet, Sarangal Vandana

机构信息

Department of Prosthodontics, SGRD Institute of Dental Sciences and Research, Amritsar, Punjab, India.

Department of Periodontics, SGRD Institute of Dental Sciences and Research, Amritsar, Punjab, India.

出版信息

Contemp Clin Dent. 2014 Apr;5(2):217-20. doi: 10.4103/0976-237X.132342.

Abstract

Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

摘要

金德勒综合征是一种罕见的遗传性疾病,与皮肤脆弱有关。该综合征累及皮肤和黏膜,并伴有放射学改变。已在20号染色体短臂上发现了基因缺陷。本报告描述了一名16岁患者,其具有儿童期水疱形成和光敏性等典型特征,随后发展为皮肤异色症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d3f6/4067787/446ee05bbcff/CCD-5-217-g001.jpg

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