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CLOVES Syndrome in a Nine-month-old Infant

CLOVES syndrome is a recently described overgrowth syndrome. Clinically, it is characterized by congenital lipomatous overgrowth (CLO), vascular anomalies (V), epidermal nevi (E), and skeletal deformities (S). Genetically, it is characterized by a somatic gain-of-function mutation of the phosphatidy...

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Detalles Bibliográficos
Autores principales: Alomar, Sara, Khedr, Rewana E, Alajlan, Saad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825489/
https://www.ncbi.nlm.nih.gov/pubmed/31723531
http://dx.doi.org/10.7759/cureus.5772
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author Alomar, Sara
Khedr, Rewana E
Alajlan, Saad
author_facet Alomar, Sara
Khedr, Rewana E
Alajlan, Saad
author_sort Alomar, Sara
collection PubMed
description CLOVES syndrome is a recently described overgrowth syndrome. Clinically, it is characterized by congenital lipomatous overgrowth (CLO), vascular anomalies (V), epidermal nevi (E), and skeletal deformities (S). Genetically, it is characterized by a somatic gain-of-function mutation of the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. This somatic mutation is, in turn, associated with the activation of the protein kinase B-mammalian target of the rapamycin (AKT-mTOR) pathway that drives various signaling cascades. The end result is eventually promoting cell proliferation, growth, and survival. CLOVES syndrome is exceedingly uncommon, with less than 200 cases currently documented. Herein, we describe a case of CLOVES syndrome in a nine-month-old male infant who was referred to our dermatology clinic for further assessment and management. The diagnosis was made based on clinical findings and confirmed by genetic testing.
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spelling pubmed-68254892019-11-13 CLOVES Syndrome in a Nine-month-old Infant Alomar, Sara Khedr, Rewana E Alajlan, Saad Cureus Dermatology CLOVES syndrome is a recently described overgrowth syndrome. Clinically, it is characterized by congenital lipomatous overgrowth (CLO), vascular anomalies (V), epidermal nevi (E), and skeletal deformities (S). Genetically, it is characterized by a somatic gain-of-function mutation of the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. This somatic mutation is, in turn, associated with the activation of the protein kinase B-mammalian target of the rapamycin (AKT-mTOR) pathway that drives various signaling cascades. The end result is eventually promoting cell proliferation, growth, and survival. CLOVES syndrome is exceedingly uncommon, with less than 200 cases currently documented. Herein, we describe a case of CLOVES syndrome in a nine-month-old male infant who was referred to our dermatology clinic for further assessment and management. The diagnosis was made based on clinical findings and confirmed by genetic testing. Cureus 2019-09-26 /pmc/articles/PMC6825489/ /pubmed/31723531 http://dx.doi.org/10.7759/cureus.5772 Text en Copyright © 2019, Alomar et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Alomar, Sara
Khedr, Rewana E
Alajlan, Saad
CLOVES Syndrome in a Nine-month-old Infant
title CLOVES Syndrome in a Nine-month-old Infant
title_full CLOVES Syndrome in a Nine-month-old Infant
title_fullStr CLOVES Syndrome in a Nine-month-old Infant
title_full_unstemmed CLOVES Syndrome in a Nine-month-old Infant
title_short CLOVES Syndrome in a Nine-month-old Infant
title_sort cloves syndrome in a nine-month-old infant
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825489/
https://www.ncbi.nlm.nih.gov/pubmed/31723531
http://dx.doi.org/10.7759/cureus.5772
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