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Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature
PURPOSE: To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process. METHOD: Searches of PubMed, identifying relevant reports up to April 2...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060316/ https://www.ncbi.nlm.nih.gov/pubmed/36255590 http://dx.doi.org/10.1007/s12020-022-03209-2 |
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author | Harbeck, B. Flitsch, J. Kreitschmann-Andermahr, I. |
author_facet | Harbeck, B. Flitsch, J. Kreitschmann-Andermahr, I. |
author_sort | Harbeck, B. |
collection | PubMed |
description | PURPOSE: To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process. METHOD: Searches of PubMed, identifying relevant reports up to April 2022. RESULTS: CNC is a rare, autosomally dominant inherited neoplasia -endocrinopathy syndrome with high clinical variability, even among members of the same family. Data on length of diagnostic process are scarce with numerous case series reporting a diagnostic delay of decades. Suggestions to shorten the diagnostic process includes awareness of the multi-faceted clinical presentations of CNC, thorough history taking of index patients and family members and awareness of diagnostic pitfalls. Importantly, unusual symptom combinations should alert the clinician to suspect a rare endocrinopathy syndrome such as CNC. Already present and coming on the horizon are databases and novel phenotyping technologies that will aid endocrinologists in their quest for timely diagnosis. CONCLUSION: In this review, we examine the current state of knowledge in CNC and suggest avenues for shortening the diagnostic journey for the afflicted patients. |
format | Online Article Text |
id | pubmed-10060316 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-100603162023-03-31 Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature Harbeck, B. Flitsch, J. Kreitschmann-Andermahr, I. Endocrine Mini Review PURPOSE: To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process. METHOD: Searches of PubMed, identifying relevant reports up to April 2022. RESULTS: CNC is a rare, autosomally dominant inherited neoplasia -endocrinopathy syndrome with high clinical variability, even among members of the same family. Data on length of diagnostic process are scarce with numerous case series reporting a diagnostic delay of decades. Suggestions to shorten the diagnostic process includes awareness of the multi-faceted clinical presentations of CNC, thorough history taking of index patients and family members and awareness of diagnostic pitfalls. Importantly, unusual symptom combinations should alert the clinician to suspect a rare endocrinopathy syndrome such as CNC. Already present and coming on the horizon are databases and novel phenotyping technologies that will aid endocrinologists in their quest for timely diagnosis. CONCLUSION: In this review, we examine the current state of knowledge in CNC and suggest avenues for shortening the diagnostic journey for the afflicted patients. Springer US 2022-10-18 2023 /pmc/articles/PMC10060316/ /pubmed/36255590 http://dx.doi.org/10.1007/s12020-022-03209-2 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Mini Review Harbeck, B. Flitsch, J. Kreitschmann-Andermahr, I. Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
title | Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
title_full | Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
title_fullStr | Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
title_full_unstemmed | Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
title_short | Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
title_sort | carney complex- why thorough medical history taking is so important - report of three cases and review of the literature |
topic | Mini Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060316/ https://www.ncbi.nlm.nih.gov/pubmed/36255590 http://dx.doi.org/10.1007/s12020-022-03209-2 |
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