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Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas
The authors present a rare case of Birt–Hogg–Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient’s history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on t...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373902/ https://www.ncbi.nlm.nih.gov/pubmed/37520842 http://dx.doi.org/10.1093/asjof/ojad064 |
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author | Theodorakopoulou, Elina McCarthy, Alec D Almpanis, Zannis Aguilera, Shino Bay |
author_facet | Theodorakopoulou, Elina McCarthy, Alec D Almpanis, Zannis Aguilera, Shino Bay |
author_sort | Theodorakopoulou, Elina |
collection | PubMed |
description | The authors present a rare case of Birt–Hogg–Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient’s history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her “bumpy skin.” She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD. Computed tomography and ultrasound scans revealed multiple cysts in both lungs and an angiomyolipoma in both kidneys. This patient had undergone a variety of treatments to aesthetically remove and heal her skin bumps from several healthcare providers, all of whom had misdiagnosed her condition. LEVEL OF EVIDENCE: 5: [Image: see text] |
format | Online Article Text |
id | pubmed-10373902 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-103739022023-07-28 Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas Theodorakopoulou, Elina McCarthy, Alec D Almpanis, Zannis Aguilera, Shino Bay Aesthet Surg J Open Forum Case Report The authors present a rare case of Birt–Hogg–Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient’s history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her “bumpy skin.” She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD. Computed tomography and ultrasound scans revealed multiple cysts in both lungs and an angiomyolipoma in both kidneys. This patient had undergone a variety of treatments to aesthetically remove and heal her skin bumps from several healthcare providers, all of whom had misdiagnosed her condition. LEVEL OF EVIDENCE: 5: [Image: see text] Oxford University Press 2023-07-12 /pmc/articles/PMC10373902/ /pubmed/37520842 http://dx.doi.org/10.1093/asjof/ojad064 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of The Aesthetic Society. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Theodorakopoulou, Elina McCarthy, Alec D Almpanis, Zannis Aguilera, Shino Bay Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas |
title | Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas |
title_full | Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas |
title_fullStr | Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas |
title_full_unstemmed | Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas |
title_short | Birt–Hogg–Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas |
title_sort | birt–hogg–dubé syndrome: a rare genodermatosis presenting as skin papillomas |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373902/ https://www.ncbi.nlm.nih.gov/pubmed/37520842 http://dx.doi.org/10.1093/asjof/ojad064 |
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