Shelton Karli, Dang Phu, McCorkle Courtney, Mallipaddi Pooja, Hollman Nicholas, Pomeroy Jeremy, Richards Jesse
Department of Internal Medicine, OU-TU School of Community Medicine, Tulsa, USA.
OU-TU School of Community Medicine, Tulsa, USA.
Orphanet J Rare Dis. 2025 Aug 28;20(1):462. doi: 10.1186/s13023-025-03870-6.
Bardet-Biedl Syndrome (BBS) is a rare obesogenic disorder affecting multiple organs. The diagnosis of BBS is usually difficult and delayed due to this syndrome's wide variety of clinical features. This study aims to assess the rate of congenital melanocytic nevi (CMN) in the BBS population in an effort to bring light to an easily assessable and early manifestation of BBS to aid in earlier diagnosis.
We utilized a survey distributed to patients with BBS registered within the Clinical Registry Investigating Bardet-Biedl Syndrome database. Analysis was performed to identify participants with CMN and their prevalence of major and minor symptoms of the diagnostic criteria for BBS.
Data from 67 patients with BBS were gathered from our surveys. Of those participants, 23.9% reported having a CMN. Patients with CMN were more likely to have abnormal reproductive health issues, high arched palate, missing teeth, dental crowning, short teeth roots, and webbed fingers and toes.
Our findings suggest that BBS is associated with CMN, possibly through altered neural crest cell migration. Screening for CMN shows a promise as a potential non-invasive screening tool to aid in earlier diagnosis of BBS.
巴德-比德尔综合征（BBS）是一种罕见的致肥胖性疾病，会影响多个器官。由于该综合征具有多种多样的临床特征，BBS的诊断通常很困难且会延迟。本研究旨在评估BBS患者群体中先天性黑素细胞痣（CMN）的发生率，以便揭示一种易于评估且为BBS早期表现的特征，以帮助早期诊断。
我们使用了一份调查问卷，分发给在巴德-比德尔综合征临床注册研究数据库中注册的BBS患者。进行分析以确定患有CMN的参与者及其BBS诊断标准中主要和次要症状的患病率。
我们通过调查收集了67例BBS患者的数据。在这些参与者中，23.9%报告患有CMN。患有CMN的患者更有可能出现生殖健康异常问题、高拱腭、牙齿缺失、牙冠修复、牙根短以及手指和脚趾蹼状等情况。
我们的研究结果表明，BBS与CMN相关，可能是通过改变神经嵴细胞迁移。CMN筛查有望成为一种潜在的非侵入性筛查工具，有助于BBS的早期诊断。
