Perianal Disease and Granulomas: Think Out of the Box…
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452020000200006 |
Resumo: | Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to a malfunction of NADPH oxidase. It is characterized by recurrent and severe infections caused by catalase-positive microorganisms and autoinflammatory manifestations. Recently, there has been described an NCF4 gene variant that causes a deficiency of p40phox, a subunit of NADPH oxidase. Patients with this deficiency appear to have a less severe clinical form as compared to classic CGD. Case: A 15-year-old girl with vulvar lichen planus since she was 2 years old and suspected Crohns disease (CD) was first seen at our hospital. At the age of 12 years, she had been submitted to sacrococcygeal cyst exeresis, without cicatrization of the surgical wound and extension of the lesion to the perianal area. The diagnosis of CD was questioned, and the patient underwent an endoscopic and radiologic assessment, which was normal. A skin biopsy from the perianal area revealed a granuloma; thus, CD with isolated perianal disease was assumed. After several different treatments including antibiotics, infliximab, and adalimumab, the perianal lesion persisted, with no associated gastrointestinal symptoms. Therefore, the hypothesis of an immunodeficiency was considered. An immunologic and genetic study revealed reduced oxidative burst in the phorbol myristate acetate test, with diminished reactive oxygen species production and a homozygous mutation in the NCF4 gene. The adolescent started prophylactic trimethoprim-sulfamethoxazole and became asymptomatic. Conclusions: The present case highlights that alternative diagnoses to CD must be considered in the presence of isolated perianal disease with granulomatous inflammation, especially when the disease is refractory to conventional CD therapy. |
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Perianal Disease and Granulomas: Think Out of the Box…p40phox deficiencyCrohns diseaseChronic granulomatous diseasesNCF4 geneBackground: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to a malfunction of NADPH oxidase. It is characterized by recurrent and severe infections caused by catalase-positive microorganisms and autoinflammatory manifestations. Recently, there has been described an NCF4 gene variant that causes a deficiency of p40phox, a subunit of NADPH oxidase. Patients with this deficiency appear to have a less severe clinical form as compared to classic CGD. Case: A 15-year-old girl with vulvar lichen planus since she was 2 years old and suspected Crohns disease (CD) was first seen at our hospital. At the age of 12 years, she had been submitted to sacrococcygeal cyst exeresis, without cicatrization of the surgical wound and extension of the lesion to the perianal area. The diagnosis of CD was questioned, and the patient underwent an endoscopic and radiologic assessment, which was normal. A skin biopsy from the perianal area revealed a granuloma; thus, CD with isolated perianal disease was assumed. After several different treatments including antibiotics, infliximab, and adalimumab, the perianal lesion persisted, with no associated gastrointestinal symptoms. Therefore, the hypothesis of an immunodeficiency was considered. An immunologic and genetic study revealed reduced oxidative burst in the phorbol myristate acetate test, with diminished reactive oxygen species production and a homozygous mutation in the NCF4 gene. The adolescent started prophylactic trimethoprim-sulfamethoxazole and became asymptomatic. Conclusions: The present case highlights that alternative diagnoses to CD must be considered in the presence of isolated perianal disease with granulomatous inflammation, especially when the disease is refractory to conventional CD therapy.Sociedade Portuguesa de Gastrenterologia2020-04-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452020000200006GE-Portuguese Journal of Gastroenterology v.27 n.2 2020reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452020000200006Reis-Melo,AnaEspinheira,Maria do CéuPinto-Pais,IsabelVitor,Artur BonitoBustamante,JacintaTrindade,Euniceinfo:eu-repo/semantics/openAccess2024-02-06T17:34:03Zoai:scielo:S2341-45452020000200006Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:36:10.844051Repositório 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 |
Perianal Disease and Granulomas: Think Out of the Box… |
title |
Perianal Disease and Granulomas: Think Out of the Box… |
spellingShingle |
Perianal Disease and Granulomas: Think Out of the Box… Reis-Melo,Ana p40phox deficiency Crohns disease Chronic granulomatous diseases NCF4 gene |
title_short |
Perianal Disease and Granulomas: Think Out of the Box… |
title_full |
Perianal Disease and Granulomas: Think Out of the Box… |
title_fullStr |
Perianal Disease and Granulomas: Think Out of the Box… |
title_full_unstemmed |
Perianal Disease and Granulomas: Think Out of the Box… |
title_sort |
Perianal Disease and Granulomas: Think Out of the Box… |
author |
Reis-Melo,Ana |
author_facet |
Reis-Melo,Ana Espinheira,Maria do Céu Pinto-Pais,Isabel Vitor,Artur Bonito Bustamante,Jacinta Trindade,Eunice |
author_role |
author |
author2 |
Espinheira,Maria do Céu Pinto-Pais,Isabel Vitor,Artur Bonito Bustamante,Jacinta Trindade,Eunice |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Reis-Melo,Ana Espinheira,Maria do Céu Pinto-Pais,Isabel Vitor,Artur Bonito Bustamante,Jacinta Trindade,Eunice |
dc.subject.por.fl_str_mv |
p40phox deficiency Crohns disease Chronic granulomatous diseases NCF4 gene |
topic |
p40phox deficiency Crohns disease Chronic granulomatous diseases NCF4 gene |
description |
Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to a malfunction of NADPH oxidase. It is characterized by recurrent and severe infections caused by catalase-positive microorganisms and autoinflammatory manifestations. Recently, there has been described an NCF4 gene variant that causes a deficiency of p40phox, a subunit of NADPH oxidase. Patients with this deficiency appear to have a less severe clinical form as compared to classic CGD. Case: A 15-year-old girl with vulvar lichen planus since she was 2 years old and suspected Crohns disease (CD) was first seen at our hospital. At the age of 12 years, she had been submitted to sacrococcygeal cyst exeresis, without cicatrization of the surgical wound and extension of the lesion to the perianal area. The diagnosis of CD was questioned, and the patient underwent an endoscopic and radiologic assessment, which was normal. A skin biopsy from the perianal area revealed a granuloma; thus, CD with isolated perianal disease was assumed. After several different treatments including antibiotics, infliximab, and adalimumab, the perianal lesion persisted, with no associated gastrointestinal symptoms. Therefore, the hypothesis of an immunodeficiency was considered. An immunologic and genetic study revealed reduced oxidative burst in the phorbol myristate acetate test, with diminished reactive oxygen species production and a homozygous mutation in the NCF4 gene. The adolescent started prophylactic trimethoprim-sulfamethoxazole and became asymptomatic. Conclusions: The present case highlights that alternative diagnoses to CD must be considered in the presence of isolated perianal disease with granulomatous inflammation, especially when the disease is refractory to conventional CD therapy. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-04-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452020000200006 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452020000200006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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http://scielo.pt/scielo.php?script=sci_arttext&pid=S2341-45452020000200006 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Gastrenterologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Gastrenterologia |
dc.source.none.fl_str_mv |
GE-Portuguese Journal of Gastroenterology v.27 n.2 2020 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 |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799137414174736384 |