Do not ignore multiple capillary malformations in a child
Autor(a) principal: | |
---|---|
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=S2795-50012022000200147 |
Resumo: | Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal dominant disorder caused by heterozygous mutations in RASA1 and EPHB4 that associates multifocal capillary malformations (CMs) with an increased risk for fast-flow vascular malformations (FFVMs) which can cause life-threatening complications. We report the case of a 6-year-old girl with lip telangiectasia as well as multiple (>10) erythematous to brownish irregular macules and patches on the face, neck, trunk, and superior extremities from the age of 18 months with no local or systemic complaints. Several family members had similar lesions. Genetic testing revealed a heterozygous mutation in the EPHB4 gene, confirming the diagnosis of CM-AVM type 2. EPHB4 gene mutation was also present in her father and brother. No associated arteriovenous malformations (AVMs) were found after a thorough evaluation by cardiology and neurology, neither in the patient nor in the closest relatives. The present case is a characteristic presentation of CM-AVM type 2 syndrome, with gradually appearance of multifocal CMs, lip telangiectasias, and a positive family history, without associated extracutaneous FFVMs. An increasing number of atypical CMs on the skin may be the only sign of CM-AVM and should alert the clinician to further investigate the presence of AVMs which can be life-threatening. |
id |
RCAP_e44560bcc770dfab65a3747ce5f8228b |
---|---|
oai_identifier_str |
oai:scielo:S2795-50012022000200147 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Do not ignore multiple capillary malformations in a childCM-AVMCapillary malformation-arteriovenous malformation syndromeCapillary malformationsDermatologyRASA 1EPHB4Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal dominant disorder caused by heterozygous mutations in RASA1 and EPHB4 that associates multifocal capillary malformations (CMs) with an increased risk for fast-flow vascular malformations (FFVMs) which can cause life-threatening complications. We report the case of a 6-year-old girl with lip telangiectasia as well as multiple (>10) erythematous to brownish irregular macules and patches on the face, neck, trunk, and superior extremities from the age of 18 months with no local or systemic complaints. Several family members had similar lesions. Genetic testing revealed a heterozygous mutation in the EPHB4 gene, confirming the diagnosis of CM-AVM type 2. EPHB4 gene mutation was also present in her father and brother. No associated arteriovenous malformations (AVMs) were found after a thorough evaluation by cardiology and neurology, neither in the patient nor in the closest relatives. The present case is a characteristic presentation of CM-AVM type 2 syndrome, with gradually appearance of multifocal CMs, lip telangiectasias, and a positive family history, without associated extracutaneous FFVMs. An increasing number of atypical CMs on the skin may be the only sign of CM-AVM and should alert the clinician to further investigate the presence of AVMs which can be life-threatening.Permanyer Publications2022-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000200147Portuguese 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=S2795-50012022000200147Calvão,JoanaMaia-Almeida,PedroRamos,Leonorinfo:eu-repo/semantics/openAccess2024-02-08T23:00:31Zoai:scielo:S2795-50012022000200147Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:36:54.234467Repositório 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 |
Do not ignore multiple capillary malformations in a child |
title |
Do not ignore multiple capillary malformations in a child |
spellingShingle |
Do not ignore multiple capillary malformations in a child Calvão,Joana CM-AVM Capillary malformation-arteriovenous malformation syndrome Capillary malformations Dermatology RASA 1 EPHB4 |
title_short |
Do not ignore multiple capillary malformations in a child |
title_full |
Do not ignore multiple capillary malformations in a child |
title_fullStr |
Do not ignore multiple capillary malformations in a child |
title_full_unstemmed |
Do not ignore multiple capillary malformations in a child |
title_sort |
Do not ignore multiple capillary malformations in a child |
author |
Calvão,Joana |
author_facet |
Calvão,Joana Maia-Almeida,Pedro Ramos,Leonor |
author_role |
author |
author2 |
Maia-Almeida,Pedro Ramos,Leonor |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Calvão,Joana Maia-Almeida,Pedro Ramos,Leonor |
dc.subject.por.fl_str_mv |
CM-AVM Capillary malformation-arteriovenous malformation syndrome Capillary malformations Dermatology RASA 1 EPHB4 |
topic |
CM-AVM Capillary malformation-arteriovenous malformation syndrome Capillary malformations Dermatology RASA 1 EPHB4 |
description |
Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal dominant disorder caused by heterozygous mutations in RASA1 and EPHB4 that associates multifocal capillary malformations (CMs) with an increased risk for fast-flow vascular malformations (FFVMs) which can cause life-threatening complications. We report the case of a 6-year-old girl with lip telangiectasia as well as multiple (>10) erythematous to brownish irregular macules and patches on the face, neck, trunk, and superior extremities from the age of 18 months with no local or systemic complaints. Several family members had similar lesions. Genetic testing revealed a heterozygous mutation in the EPHB4 gene, confirming the diagnosis of CM-AVM type 2. EPHB4 gene mutation was also present in her father and brother. No associated arteriovenous malformations (AVMs) were found after a thorough evaluation by cardiology and neurology, neither in the patient nor in the closest relatives. The present case is a characteristic presentation of CM-AVM type 2 syndrome, with gradually appearance of multifocal CMs, lip telangiectasias, and a positive family history, without associated extracutaneous FFVMs. An increasing number of atypical CMs on the skin may be the only sign of CM-AVM and should alert the clinician to further investigate the presence of AVMs which can be life-threatening. |
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=S2795-50012022000200147 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000200147 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000200147 |
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) |
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 |
repository.mail.fl_str_mv |
|
_version_ |
1799137419975458816 |