PIK3CA related overgrowth syndrome with vascular malformations (PROSvm) are made-up of a number of disorders that have tissue overgrowth and include vascular anomalies such as capillary, venous, lymphatic malformations that are caused by an overexpression of a somatic gene, PIK3CA. These overgrowth disorders can cause pain, bleeding, infection, and dysfunction, leading to significant morbidity.
Phenotypic features: Overgrowth / hypertrophy of affected part of the body, and venous, lymphatic and capillary malformation (isolated or in combination)
Includes many diagnoses: Congenital lipomatous overgrowth with epidermal nevi and skeletal and spinal anomalies (CLOVES), capillary lymphatic venous malformation with overgrowth or capillary venous lymphatic malformation with overgrowth (CLVM, CVLM -Klippel trenaunay syndrome (KTS), fibro-adipose vascular anomaly (FAVA), macrocephaly capillary malformation (MCM)
Excludes PIK3CA syndromes without a vascular malformation and overgrowth syndromes not secondary
Genetic: Defined by somatic gain of function mutation in PIK3CA
Symptoms: Pain, significant orthopedic issues, infection, coagulopathy, body image issues
Treatment: Managed with observation, preventive, supportive symptomatic treatment, procedural, and pharmacologic intervention
References
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