Articles

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

Authors: P.S. Buonuomo (Bambino Gesù Children's Hospital) , M. El Hachem (Bambino Gesù Children's Hospital) , G. Mastrogiorgio (Bambino Gesù Children's Hospital) , E. Pisaneschi (Bambino Gesù Children's Hospital) , A. Diociaiuti (Bambino Gesù Children's Hospital) , I. Rana (Bambino Gesù Children's Hospital) , M. Macchiaiolo (Bambino Gesù Children's Hospital) , R. Capolino (Bambino Gesù Children's Hospital) , M.V. Gonfiantini (Bambino Gesù Children's Hospital) , D. Vecchio (Bambino Gesù Children's Hospital) , A. Novelli (Bambino Gesù Children's Hospital) , A. Bartuli (Bambino Gesù Children's Hospital)

Abstract

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.

Keywords: vascular malformations, TEK gene, pediatric, genetic

How to Cite: Buonuomo, P. , El Hachem, M. , Mastrogiorgio, G. , Pisaneschi, E. , Diociaiuti, A. , Rana, I. , Macchiaiolo, M. , Capolino, R. , Gonfiantini, M. , Vecchio, D. , Novelli, A. & Bartuli, A. (2022) “A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?”, Lymphology. 55(1). doi: https://doi.org/10.2458/lymph.5145