PDF(Pubmed)
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：
小丑鼻样病变是指在鼻尖上出现带红色或皮肤颜色的凸起或鼻球尖的表现。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指征，不仅仅是最初提出的转移性内脏肿瘤的表现。然而,由转移性恶性肿瘤指示的小丑鼻样病变的临床特征，缺乏涉及鼻尖的遗传性癌症易感性综合征或原发性疾病。在这项研究中,收集并回顾了我们临床实践和已发表文献中的小丑鼻样病变患者。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是孤立的，并且在男性（24/31）老年个体（平均年龄62.3，40-78岁）中更为常见。此外,它们通常出现很短的时间，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）。与遗传性癌症易感性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)发展，女性偏好(9/10)。它们伴随着多系统的参与，包括低头发量，发育迟缓,癌症易感性或神经系统疾病。他们表现出缓慢的发展和经常积极的家族史（6/10）。这两种小丑鼻样病变往往无症状,这延迟了潜在恶性肿瘤或综合征的诊断和治疗。简而言之,小丑鼻子样病变的术语被低估了，并且应该更新。小丑鼻样病变可以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，和涉及鼻尖的原发疾病。提高对更新的小丑鼻样病变的临床特征的认识可以提醒医生注意这些潜在的恶性肿瘤或综合征，使早期检测相关的医疗问题，并允许对家庭成员进行遗传咨询。
