PDF(Pubmed)
Abstract：
UNASSIGNED: Cowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon.
UNASSIGNED: We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.
UNASSIGNED: There are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.
UNASSIGNED: We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.
UNASSIGNED: There are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.
摘要：
■Cowden综合征（CS）是一种与PTEN基因突变相关的罕见遗传性疾病。它的特点是大头畸形，特定的粘膜皮肤特征，和良性和恶性肿瘤的易感性。主要表现为口腔临床表现的CS病例相对少见。
■我们报告了一例41岁的男性先证者，表现为双侧连合和舌外突出对称病变超过两年。先证者还表现出其他特征，包括大头畸形,沟通困难,和肥胖。在家庭成员中观察到类似的口腔临床表现。全外显子组测序分析显示，先证者和他的弟弟的PTEN基因突变与CS相关。此病例提醒人们注意CS在口腔临床实践中的不同表现，并强调了基因检测对指导诊断和治疗的重要性。
■很少报道以口腔病变为主的CS病例。这一发现有助于进一步了解CS发病机理的某些方面，并增强了对主要表现为口腔临床表现的CS病例的认识。
■我们报告了一例41岁的男性先证者，表现为双侧连合和舌外突出对称病变超过两年。先证者还表现出其他特征，包括大头畸形,沟通困难,和肥胖。在家庭成员中观察到类似的口腔临床表现。全外显子组测序分析显示，先证者和他的弟弟的PTEN基因突变与CS相关。此病例提醒人们注意CS在口腔临床实践中的不同表现，并强调了基因检测对指导诊断和治疗的重要性。
■很少报道以口腔病变为主的CS病例。这一发现有助于进一步了解CS发病机理的某些方面，并增强了对主要表现为口腔临床表现的CS病例的认识。
