Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

Congenital brain malformations are abnormalities present at birth that can result from
developmental disruptions at various embryonic or fetal stages. The clinical presentation is …

Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses several rare
conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor …

Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Please see the Editorial Comment by Geetika Khanna discussing this article. Please see the
Author Video associated with this article. Lymphatic anomalies comprise a spectrum of …

The vascular system is essential for embryogenesis, healing, and homeostasis. Dysfunction
or deregulated blood vessel function contributes to multiple diseases, including diabetic …

Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries
that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several …

Background Vascular anomalies affect up to 5% of children with the majority affecting the
head and neck. They present at different ages as a wide variety of lesions. A careful …

Epidermal nevi are a group of hamartomatous lesions, often congenital, characterized by
hyperplasia of epidermal cells. The cells residing in the epidermis include keratinocytes …

Sporadic vascular malformations (VMs) are a large group of disorders of the blood and
lymphatic vessels caused by somatic mutations in several genes—mainly regulating the …