CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings
Autor(a) principal: | |
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Data de Publicação: | 2022 |
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=S2795-50012022000200138 |
Resumo: | Abstract CLOVES syndrome is a rare overgrowth syndrome caused by an activating somatic mutation in the PIK3CA gene. We report the case of a six-month-old male that presented with a complex dermatosis with evolution since birth. Physical examination revealed a reticulated erythematous patch that affected the right anterior chest wall, where it showed sharp demarcation at the midline. He also had gigantism of the hands and feet, with an acral furrowing of the skin. Later on, he developed papillomatous plaque lesions in the cervical region, suggestive of epidermal nevi. Genetic study performed on lesional skin confirmed the PIK3CA mutation, establishing the diagnosis of CLOVES syndrome. The present case stands out given the rarity of this entity. Early differentiation between other overgrowth syndromes is important, namely because of the worse prognosis of Proteus. Moreover, we emphasize the importance of cutaneous findings and the dermatologist’s role in the diagnostic approach to such cases. |
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7160 |
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CLOVES syndrome in a six-month-old infant: The importance of cutaneous findingsCLOVESOvergrowth syndromePaediatric dermatologyAbstract CLOVES syndrome is a rare overgrowth syndrome caused by an activating somatic mutation in the PIK3CA gene. We report the case of a six-month-old male that presented with a complex dermatosis with evolution since birth. Physical examination revealed a reticulated erythematous patch that affected the right anterior chest wall, where it showed sharp demarcation at the midline. He also had gigantism of the hands and feet, with an acral furrowing of the skin. Later on, he developed papillomatous plaque lesions in the cervical region, suggestive of epidermal nevi. Genetic study performed on lesional skin confirmed the PIK3CA mutation, establishing the diagnosis of CLOVES syndrome. The present case stands out given the rarity of this entity. Early differentiation between other overgrowth syndromes is important, namely because of the worse prognosis of Proteus. Moreover, we emphasize the importance of cutaneous findings and the dermatologist’s role in the diagnostic approach to such cases.Permanyer Publications2022-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000200138Portuguese Journal of Dermatology and Venereology v.80 n.2 2022reponame: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=S2795-50012022000200138Alves,FranciscaMorgado,FranciscaSousa,SérgioRamos,Leonorinfo:eu-repo/semantics/openAccess2024-02-08T23:00:30Zoai:scielo:S2795-50012022000200138Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:36:54.141212Repositório 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 |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
title |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
spellingShingle |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings Alves,Francisca CLOVES Overgrowth syndrome Paediatric dermatology |
title_short |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
title_full |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
title_fullStr |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
title_full_unstemmed |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
title_sort |
CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings |
author |
Alves,Francisca |
author_facet |
Alves,Francisca Morgado,Francisca Sousa,Sérgio Ramos,Leonor |
author_role |
author |
author2 |
Morgado,Francisca Sousa,Sérgio Ramos,Leonor |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Alves,Francisca Morgado,Francisca Sousa,Sérgio Ramos,Leonor |
dc.subject.por.fl_str_mv |
CLOVES Overgrowth syndrome Paediatric dermatology |
topic |
CLOVES Overgrowth syndrome Paediatric dermatology |
description |
Abstract CLOVES syndrome is a rare overgrowth syndrome caused by an activating somatic mutation in the PIK3CA gene. We report the case of a six-month-old male that presented with a complex dermatosis with evolution since birth. Physical examination revealed a reticulated erythematous patch that affected the right anterior chest wall, where it showed sharp demarcation at the midline. He also had gigantism of the hands and feet, with an acral furrowing of the skin. Later on, he developed papillomatous plaque lesions in the cervical region, suggestive of epidermal nevi. Genetic study performed on lesional skin confirmed the PIK3CA mutation, establishing the diagnosis of CLOVES syndrome. The present case stands out given the rarity of this entity. Early differentiation between other overgrowth syndromes is important, namely because of the worse prognosis of Proteus. Moreover, we emphasize the importance of cutaneous findings and the dermatologist’s role in the diagnostic approach to such cases. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-06-01 |
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=S2795-50012022000200138 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000200138 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000200138 |
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 |
Permanyer Publications |
publisher.none.fl_str_mv |
Permanyer Publications |
dc.source.none.fl_str_mv |
Portuguese Journal of Dermatology and Venereology v.80 n.2 2022 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
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) |
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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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1799137419972313088 |