Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by variants in the extracellular microfibril fibrillin (FBN1) gene. Here we report an FBN1 variant in a child with an unusual skin rash mimicking cutaneous vasculitis, and mild aortic root dilatation. The case was compl...

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Hlavní autoři:	Fiona Price-Kuehne, Ebun Omoyinmi, Maha Younes, Matthew Edwards, Despina Eleftheriou, Paul Brogan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-06-01
Edice:	Frontiers in Pediatrics
Témata:	marfan syndrome FBN1 gene vasculitis skin rash aortic dilatation
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2023.1205255/full
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