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小丑鼻样病变的最新情况,一种未被充分认识的转移性恶性肿瘤和遗传性癌症易感性综合征的表现。

Update of Clown Nose-Like Lesion, a Underrecognized Manifestation of Metastatic Malignancies and Genetic Cancer Predisposition Syndromes.

作者信息

Zhao Bei, Chen Ling, Liao Jinfeng, Xie Zhen, Lei Xia, Shen Zhu

机构信息

Department of Dermatology, Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.

Department of Dermatology, Daping Hospital, Army Medical University, Chongqing, China.

出版信息

Front Med (Lausanne). 2021 May 13;8:673336. doi: 10.3389/fmed.2021.673336. eCollection 2021.

Abstract

Clown nose-like lesion refers to the manifestation of a reddish or skin-colored bulge on the tip of the nose or the manifestation of bulbous tip of the nose. More and more clinical cases show that clown nose-like lesion can also be the indication of some genetic syndromes, not just the manifestation of metastatic visceral tumor as it initially proposed. However, the clinical features of clown nose-like lesion indicated by metastatic malignancies, genetic cancer predisposition syndromes or primary diseases involving the nasal tip are lacking. In this study, patients with clown nose-like lesion in our clinical practices and from published literatures were collected and reviewed. We found that clown nose-like lesions caused by metastatic malignancies including lung cancer are often solitary and more common in male (24/31) older individuals (average age 62.3, ranging 40-78 years old). In addition, they usually appear for a short time, and are prone to be misdiagnosed as primary nasal diseases, leading to a poor prognosis (all patients with data available died within 4 months). Clown nose-like lesions associated with genetic cancer predisposition syndromes usually develop at a young age (mean age 15.3) with female preference (9/10). They are accompanied by multiple-systemic involvements, including low hair volume, developmental delay, cancer predisposition or neurological diseases. They show slow development and often positive family history (6/10). These two kinds of clown nose-like lesions are often asymptomatic, which delays the diagnosis and treatment of underlying malignancies or syndromes. In brief, the term of clown nose-like lesion is underrecognized, and should be updated. Clown nose-like lesions can serve as indicators to at least three categories of clinical issues: metastatic visceral tumors, genetic syndromes, and primary diseases involving the nasal tip. Increased awareness of clinical features of updated clown nose-like lesions can alert physicians to these underlying malignancies or syndromes, render earlier detection of associated medical issues, and allow for genetic counseling of family members.

摘要

小丑鼻样病变是指鼻尖出现红色或肤色隆起,或鼻尖呈球样表现。越来越多的临床病例表明,小丑鼻样病变也可能是某些遗传综合征的表现,而不仅仅如最初所认为的是转移性内脏肿瘤的表现。然而,由转移性恶性肿瘤、遗传性癌症易感综合征或累及鼻尖的原发性疾病所导致的小丑鼻样病变的临床特征尚不明确。在本研究中,我们收集并回顾了临床实践中及已发表文献里有小丑鼻样病变的患者。我们发现,由包括肺癌在内的转移性恶性肿瘤引起的小丑鼻样病变通常为单发,男性(24/31)及老年个体(平均年龄62.3岁,范围40 - 78岁)更为常见。此外,它们通常出现时间较短,容易被误诊为原发性鼻部疾病,导致预后不良(所有有数据的患者均在4个月内死亡)。与遗传性癌症易感综合征相关的小丑鼻样病变通常在年轻时(平均年龄15.3岁)出现,女性更为多见(9/10)。它们伴有多系统受累,包括毛发稀少、发育迟缓、癌症易感性或神经系统疾病。其发展缓慢,且往往有阳性家族史(6/10)。这两种小丑鼻样病变通常无症状,这延误了潜在恶性肿瘤或综合征的诊断与治疗。简而言之,小丑鼻样病变未得到充分认识,应更新其定义。小丑鼻样病变可作为至少三类临床问题的指标:转移性内脏肿瘤、遗传综合征以及累及鼻尖的原发性疾病。提高对更新后的小丑鼻样病变临床特征的认识,可使医生警惕这些潜在的恶性肿瘤或综合征,更早发现相关医学问题,并为家庭成员提供遗传咨询。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a450/8155271/b228943558ee/fmed-08-673336-g0001.jpg

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