Vascular anomalies include various diseases, which are classified into two types according
to the International Society for the Study of Vascular Anomalies (ISSVA) classification …

Chronic venous disease (CVD) is a multifactorial condition affecting an important
percentage of the global population. It ranges from mild clinical signs, such as …

Importance Sirolimus is increasingly being used to treat various vascular anomalies,
although evidence of its efficacy is lacking. Objective To assess the efficacy and safety of …

Abstract Background Cerebral cavernous malformations (CCMs) are common sporadic and
inherited vascular malformations of the central nervous system. Although familial CCMs are …

Mosaicism is increasingly recognized as a cause of developmental disorders with the
advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been …

Overgrowth syndromes are characterized by global or localized disproportionate growth
associated with other anomalies, including vascular malformations and neurological and/or …

Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic
disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We …

Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …

Mosaicism may occur as a somatic mutation occurring during embryogenesis, resulting in an
organism composed of 2 (or more) genetically distinct cell lineages. 1 The resulting …

Abstract The Klippel-Trénaunay syndrome is an unusual syndrome of vascular and
dermatologic manifestation in which patients demonstrate hemihypertrophy of the soft tissue …