CLOVES Syndrome in a Nine-month-old Infant

被引:8
|
作者
Alomar, Sara [1 ]
Khedr, Rewana E. [1 ]
Alajlan, Saad [2 ]
机构
[1] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Dermatol, Riyadh, Saudi Arabia
关键词
pik3ca-related overgrowth spectrum; cloves syndrome; pik3ca; OVERGROWTH; DIAGNOSIS;
D O I
10.7759/cureus.5772
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 Bmammalian 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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页数:10
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