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.
