Suppr超能文献

考登综合征——1例罕见病例的临床影像学表现

Cowden syndrome- Clinico-radiological illustration of a rare case.

作者信息

Patil Prashant B, Sreenivasan V, Goel Sumit, Nagaraju K, Vashishth Shirin, Gupta Swati, Garg Kanika

机构信息

Department of Oral Medicine and Radiology, Subharti Dental College, Meerut, Uttar Pradesh, India.

出版信息

Contemp Clin Dent. 2013 Jan;4(1):119-23. doi: 10.4103/0976-237X.111634.

Abstract

Cowden syndrome (CS) or multiple hamartoma syndrome is an infrequent genodermatoses, which is inherited as an autosomal dominant trait resulting from the mutation in the Phosphatase and Tensin homolog gene on the arm 10q and is principally characterized by multiple hamartomas with an increased risk of development of malignancies. Facial and oral signs are remarkable in the form of multiple papules and trichilemmomas on the face. We report one such rare case of CS in a 19-year-old patient who was diagnosed on the basis of her oral mucosal lesions and was further investigated and diagnosed with other hamartomas. The present case report signifies the responsibility of the oral physician in the early diagnosis of this progressive pathological syndrome as it leaves its footmark in the oral cavity in the form of oral mucosal lesions.

摘要

考登综合征(CS)或多发性错构瘤综合征是一种罕见的遗传性皮肤病,呈常染色体显性遗传,由10q染色体上的磷酸酶和张力蛋白同源基因(PTEN)突变引起,主要特征为多发性错构瘤,发生恶性肿瘤的风险增加。面部和口腔症状表现为面部多发丘疹和毛发上皮瘤,十分显著。我们报告了一例19岁的CS罕见病例,该患者根据口腔黏膜病变被确诊,随后经进一步检查确诊患有其他错构瘤。本病例报告表明,口腔医生有责任尽早诊断这种进行性病理综合征,因为它会在口腔中留下口腔黏膜病变的痕迹。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/088c/3703684/ca9afb6681cc/CCD-4-119-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验