A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?
- 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), 36-39. doi: https://doi.org/10.2458/lymph.5145
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