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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2019
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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. |
format | Online Article Text |
id | pubmed-6825489 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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