Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://hdl.handle.net/1822/78289 |
Resumo: | Basaloid follicular hamartoma (BFH) is a normally benign, uncommon, malformative lesion involving the hair follicles, which usually poses challenges in the differential diagnosis with other benign and malignant tumours, especially basal cell carcinoma, due to significant clinical and morphological overlap. Here, we report the case of a 53-year-old male who presented with a mass in the upper left eyelid evolving for one year. The patient had a previous history of total colectomy and an abdominal desmoid tumour within the context of Familial Adenomatous Polyposis (FAP), with a documented germline mutation in the Adenomatous Polyposis Coli (APC) gene. The eyelid lesion was biopsied and the histological analysis of the three small tissue fragments received revealed fragments with cutaneous–conjunctival lining displaying a subepithelial proliferation of basaloid nests with peripheral palisading, compatible with primitive hair follicles. There were images of anastomosis between different basaloid nests, which had their connection to the epithelial lining preserved. The stroma had high cellularity and sometimes primitive mesenchymal papillae were evident. Pleomorphism was absent, mitotic figures were barely identified, and no necrosis was seen. The basaloid nests did not have epithelial–stromal retraction nor mucin deposits. A diagnosis of BFH was proposed, which was later confirmed after surgical excision of the whole eyelid lesion. No evidence of carcinoma was present. This case illustrates the main features of the rare benign eyelid BFH. The standard medical or surgical approach of these lesions remains to be firmly established. Nearly nine months after surgical excision our patient remains well without signs of disease recurrence. |
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Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular regionBasaloid follicular hamartomaEyelidEyelid tumourOcular pathologyOcular regionScience & TechnologyBasaloid follicular hamartoma (BFH) is a normally benign, uncommon, malformative lesion involving the hair follicles, which usually poses challenges in the differential diagnosis with other benign and malignant tumours, especially basal cell carcinoma, due to significant clinical and morphological overlap. Here, we report the case of a 53-year-old male who presented with a mass in the upper left eyelid evolving for one year. The patient had a previous history of total colectomy and an abdominal desmoid tumour within the context of Familial Adenomatous Polyposis (FAP), with a documented germline mutation in the Adenomatous Polyposis Coli (APC) gene. The eyelid lesion was biopsied and the histological analysis of the three small tissue fragments received revealed fragments with cutaneous–conjunctival lining displaying a subepithelial proliferation of basaloid nests with peripheral palisading, compatible with primitive hair follicles. There were images of anastomosis between different basaloid nests, which had their connection to the epithelial lining preserved. The stroma had high cellularity and sometimes primitive mesenchymal papillae were evident. Pleomorphism was absent, mitotic figures were barely identified, and no necrosis was seen. The basaloid nests did not have epithelial–stromal retraction nor mucin deposits. A diagnosis of BFH was proposed, which was later confirmed after surgical excision of the whole eyelid lesion. No evidence of carcinoma was present. This case illustrates the main features of the rare benign eyelid BFH. The standard medical or surgical approach of these lesions remains to be firmly established. Nearly nine months after surgical excision our patient remains well without signs of disease recurrence.Multidisciplinary Digital Publishing Institute (MDPI)Universidade do MinhoLamas, Nuno JorgeRodrigues, Ana PatríciaAraújo, MariaVizcaíno, José RamónCoelho, André2022-01-072022-01-07T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/1822/78289engLamas, N.J.; Rodrigues, A.P.; Araújo, M.; Vizcaíno, J.R.; Coelho, A. Basaloid Follicular Hamartoma of the Eyelid: A Case Report and Literature Review about an Unusual Lesion in the Ocular Region. Diagnostics 2022, 12, 140. https://doi.org/10.3390/diagnostics120101402075-441810.3390/diagnostics12010140140https://www.mdpi.com/2075-4418/12/1/140info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:49:05Zoai:repositorium.sdum.uminho.pt:1822/78289Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:47:29.189088Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
title |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
spellingShingle |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region Lamas, Nuno Jorge Basaloid follicular hamartoma Eyelid Eyelid tumour Ocular pathology Ocular region Science & Technology |
title_short |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
title_full |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
title_fullStr |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
title_full_unstemmed |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
title_sort |
Basaloid follicular hamartoma of the eyelid: a case report and literature review about an unusual lesion in the ocular region |
author |
Lamas, Nuno Jorge |
author_facet |
Lamas, Nuno Jorge Rodrigues, Ana Patrícia Araújo, Maria Vizcaíno, José Ramón Coelho, André |
author_role |
author |
author2 |
Rodrigues, Ana Patrícia Araújo, Maria Vizcaíno, José Ramón Coelho, André |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Lamas, Nuno Jorge Rodrigues, Ana Patrícia Araújo, Maria Vizcaíno, José Ramón Coelho, André |
dc.subject.por.fl_str_mv |
Basaloid follicular hamartoma Eyelid Eyelid tumour Ocular pathology Ocular region Science & Technology |
topic |
Basaloid follicular hamartoma Eyelid Eyelid tumour Ocular pathology Ocular region Science & Technology |
description |
Basaloid follicular hamartoma (BFH) is a normally benign, uncommon, malformative lesion involving the hair follicles, which usually poses challenges in the differential diagnosis with other benign and malignant tumours, especially basal cell carcinoma, due to significant clinical and morphological overlap. Here, we report the case of a 53-year-old male who presented with a mass in the upper left eyelid evolving for one year. The patient had a previous history of total colectomy and an abdominal desmoid tumour within the context of Familial Adenomatous Polyposis (FAP), with a documented germline mutation in the Adenomatous Polyposis Coli (APC) gene. The eyelid lesion was biopsied and the histological analysis of the three small tissue fragments received revealed fragments with cutaneous–conjunctival lining displaying a subepithelial proliferation of basaloid nests with peripheral palisading, compatible with primitive hair follicles. There were images of anastomosis between different basaloid nests, which had their connection to the epithelial lining preserved. The stroma had high cellularity and sometimes primitive mesenchymal papillae were evident. Pleomorphism was absent, mitotic figures were barely identified, and no necrosis was seen. The basaloid nests did not have epithelial–stromal retraction nor mucin deposits. A diagnosis of BFH was proposed, which was later confirmed after surgical excision of the whole eyelid lesion. No evidence of carcinoma was present. This case illustrates the main features of the rare benign eyelid BFH. The standard medical or surgical approach of these lesions remains to be firmly established. Nearly nine months after surgical excision our patient remains well without signs of disease recurrence. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-01-07 2022-01-07T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://hdl.handle.net/1822/78289 |
url |
https://hdl.handle.net/1822/78289 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Lamas, N.J.; Rodrigues, A.P.; Araújo, M.; Vizcaíno, J.R.; Coelho, A. Basaloid Follicular Hamartoma of the Eyelid: A Case Report and Literature Review about an Unusual Lesion in the Ocular Region. Diagnostics 2022, 12, 140. https://doi.org/10.3390/diagnostics12010140 2075-4418 10.3390/diagnostics12010140 140 https://www.mdpi.com/2075-4418/12/1/140 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute (MDPI) |
publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute (MDPI) |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799133048211505152 |