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Background <p>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.</p> Methods <p>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.</p> Results <p>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.</p> Conclusion <p>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.</p>

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Congenital melanocytic nevi in Bardet-Biedl syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月28日

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

摘要

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.