A number of clinical findings can help to recognize a patient who may have one of the PIK3CA-related overgrowth syndromes (PROS).

Inheritance: usually not inherited, rarely autosomal dominant


Red flags for a PIK3A-related overgrowth syndrome:

(1) overgrowth of any tissue (adipose tissue, vessels, muscle, nerve, brain)

(2) vascular or lymphatic malformation

(3) skin lesions: epidermal nevi, hyperpigmented macules, cutaneous hemangiomas, benign lichenoid keratosis

(4) digital anomalies: syndactyly, polydactyly, macrodactyly, etc

(5) malformations of the kidneys

(6) benign tumor

(7) Wilm's tumor or nephroblastoma


Red flags that can be seen on brain MRI:

(1) hemimegaloencephaly

(2) focal cortical dystrophy

(3) dysplastic megaloencephaly


If red flags are seen, then the specific phenotype can be identified and molecular testing performed to confirm the diagnosis.

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