Proteus syndrome — RACP Paediatrics MCQ

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HardGeneticsProteus syndromeRACP Paediatrics

A 2-year-old has hemihyperplasia, lipomas, vascular malformations, and cerebriform connective tissue naevi on soles. Progressive distorting overgrowth. What is the diagnosis?

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Correct answer: D — Proteus syndrome

Progressive asymmetric distorting overgrowth + lipomas + vascular malformations + pathognomonic CCTN = Proteus syndrome (somatic AKT1 mutation). Mosaic disorder.

Reference: RACP Paediatric Curriculum – Genetics