Vascular malformations are congenital dysmorphic vessels that are present at birth but may not become clinically apparent until later in life. They may worsen in severity with age and persist if untreated [1]. The updated International Society for the Study of Vascular Anomalies classification divides vascular malformations into four types: simple, combined, major named vessel(s), and associated with other anomalies [2]. Vascular malformations can also be subdivided according to flow rate: slow flow lesions contain capillaries, veins and/or lymphatics, and fast flow lesions have an arterial component. Venous malformations (VMs) are the most frequent type, accounting for two thirds of all cutaneous vascular malformations [3]. VMs are soft, compressible, non-pulsatile and bluish in color. They may become distended with exercise. They can be focal, multifocal, or diffuse; although they can occur anywhere in the body, focal genital involvement is rare.

 History and physical examination are usually sufficient for diagnosis.  Doppler ultrasound is the preferred first-line imaging modality for venous malformations involving superficial soft tissues and may be used to identify the anatomy of the feeding vessels. On ultrasound, venous malformations are hypoechoic, compressible lesions in approximately 80% of cases, although in up to 20% of cases venous malformations are isoechoic or hyperechoic.

Phleboliths appearing as hyperechoic masses with posterior shadowing may be seen and are pathognomonic for venous malformations.1 The distinction between venous and lymphatic malformations can be difficult, even in experienced hands, as the pathognomonic signs non-compressible, cysts with thick septa and fluid levels) are not always present or may be complicated by intracystic haemorrhage. Doppler sonography is used to confirm the venous malformation, which has a slow monophasic flow. In approximately

For lymphatic malformations (LMs) are congenital non-proliferative malformations of the lymphatic drainage pathways that result in enlarged vascular and cystic spaces. They can be simple or complex, the complex including elements of other types of vasculatures, particularly venous, as in our case. LM are most usually diagnosed at birth, affecting one in 2000 to 4000 individuals, and result from errors in embryonic development [4]. Lesions most commonly occur in areas of rich lymphatic circulation, including head and neck, axilla, mediastinum, groin, and retroperitonea.

Advancements in the molecular biology and the discovery of somatic mutations that may be responsible for both venous and lymphatic malformations. These vascular malformations are congenital and are due to sporadic somatic mutations in 2 genes. To date, 60% of venous malformations have an activating mutation in the TEK (TIE2) gene, which encodes the TIE2 receptor tyrosine kinase on endothelial cells, and 20% of venous malformations have a mutation in the PIK3CA gene, which results in excessive activation of phosphoinositol 3-kinase (PI3K). These two mutations induce excessive activation of intracellular signaling cascades and in particular the PI3K/AKT/mammalian target of rapamycin (mTOR) pathway), leading to uncontrolled endothelial cell proliferation and disruption of pericyte coverage. These mutations lead to hyperactivation of the PI3K pathway, resulting in abnormal tissue growth, including epithelial and mesenchymal cells. The resulting proliferative syndromes often include slow-flow vascular malformations: lymphatic and venous and vascular malformations, which explains the efficacy of treatment with specific therapies, in particular sirolimus [5].