Fig. 2
From: A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
PIK3CA-related disorders. The category of PIK3CA-related disorders can be divided into 3 subcategories: PROS, PIK3CA-related vascular malformations, and PIK3CA-related nonvascular lesions. CLAPO: capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth; CLOVES: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal; CLVM: combined capillary-lymphatic-venous malformation; DCMO: diffuse capillary malformation with overgrowth; DMEG: dysplastic megalencephaly; FAO/HHML: fibroadipose hyperplasia or overgrowth/hemihyperplasia-multiple lipomatosis; FAVA: fibroadipose vascular anomaly; FIL: fibroadipose or facial infiltrating lipomatosis; GLA, generalized lymphatic anomaly; HH: hemihyperplasia; HMEG: hemimegalencephaly; LM, lymphatic malformation; LON: lipomatosis of nerve; LVM: combined lymphatic-venous malformation; MCAP: megalencephaly-capillary malformation; PIK3CA: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; VM, venous malformation. *Malformations that are composed of only one type of vessel are classified as “simple” (with the exception of arteriovenous malformation). If a lesion contains ≥ 2 types of vascular malformations, it is classified as “combined.” Vascular malformations are also classified according to major named vessels or by association with other anomalies (e.g., PROS) Wassef 2015 [33]. †Some common (cystic) LM are classified as PROS when they are associated with overgrowth ISSVA 2018 [2]. ‡Can occur as isolated lesions or with other clinical features. Supporting Sources: PIK3CA-related overgrowth spectrum: Keppler-Noreuil 2015 [3]; ISSVA 2018 [2]; Goss 2020 [28]; Hughes 2020 [29]; Mahan 2014 [30]; Rios 2013 [31]; Rodriguez-Laguna 2019 [32]; PIK3CA-related vascular malformations: ISSVA 2018 [2]; Rodriguez-Laguna 2019 [32]; PIK3CA-related nonvascular lesions: Keppler-Noreuil 2015 [3]; Combined vascular malformations: Wassef 2015 [33]; Brandigi 2018 [27]