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Am J Med Genet A ; 191(5): 1442-1446, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36695285

RESUMO

Capillary malformations are slow-flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Here, we present a male patient with a capillary malformation and undergrowth due to a somatic pathogenic variant in AKT3 to confirm this association. It is essential to consider that mosaic pathogenic variants in AKT3 can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism.


Assuntos
Livedo Reticular , Telangiectasia , Malformações Vasculares , Criança , Humanos , Masculino , Capilares/anormalidades , Malformações Vasculares/diagnóstico , Malformações Vasculares/genética , Telangiectasia/genética , Síndrome , Mutação , Proteínas Proto-Oncogênicas c-akt/genética
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