A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?

A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?

Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their related syndromes presents a challenge. Here we describe a case of a boy presenting with Marfanoid habitus, cutaneous vascular malformations, a...

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Bibliographic Details
Published in:Lymphology Vol. 55; no. 1
Main Authors: Buonuomo, P.S., El Hachem, M., Mastrogiorgio, G., Pisaneschi, E., Diociaiuti, A., Rana, I., Macchiaiolo, M., Capolino, R., Gonfiantini, M.V., Vecchio, D., Novelli, A., Bartuli, A.
Format: Journal Article
Language:English
Published: 29-06-2022
Online Access:Get full text
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Summary:Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their related syndromes presents a challenge. Here we describe a case of a boy presenting with Marfanoid habitus, cutaneous vascular malformations, and severe acute anemia due to ileal venous malformations. Although a panel of genetic markers for the Marfan phenotype was negative, we identified a de novo mutation in the TEK gene in the patient. This case supports expansion of the phenotypic spectrum of TEK-related vascular malformations.
ISSN:0024-7766
2522-7963
DOI:10.2458/lymph.5145