Congenital melanocytic nevi in Bardet-Biedl syndrome.

IF 3.5 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2025-08-28 DOI:10.1186/s13023-025-03870-6

Karli Shelton, Phu Dang, Courtney McCorkle, Pooja Mallipaddi, Nicholas Hollman, Jeremy Pomeroy, Jesse Richards

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Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

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Bardet-Biedl综合征的先天性黑素细胞痣。

背景：Bardet-Biedl综合征（BBS）是一种罕见的影响多器官的致肥性疾病。BBS的诊断通常是困难和延迟的，由于该综合征的各种各样的临床特征。本研究旨在评估先天性黑素细胞痣（CMN）在BBS人群中的发生率，以揭示BBS易于评估和早期表现，以帮助早期诊断。方法：我们使用了一项分布在临床登记调查Bardet-Biedl综合征数据库中登记的BBS患者的调查。分析CMN患者及其主要和次要症状是否符合BBS诊断标准。结果：从我们的调查中收集了67例BBS患者的数据。在这些参与者中，23.9%的人报告有CMN。CMN患者更有可能出现生殖健康异常、上颚高弓、缺牙、牙冠、牙根短、手指和脚趾蹼。结论：我们的研究结果表明，BBS与CMN有关，可能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，有助于早期诊断BBS。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.