A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child

Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8‐year‐old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian tumor. Initially, the patient was suspected of having Maffucci syndrome (MS) upon admission. Genetic analysis of a lesion sample from the fifth toe of the left foot identified a heterozygous point mutation, 49G > A (p.Glu17Lys), in the AKT1 gene. The patient met the clinical‐molecular diagnostic criteria established by Leslie G. Biesecker, scoring 15 points, thereby confirming the diagnosis of AKT1‐related PS. This case report contributes to the enhanced understanding of PS diagnosis associated with AKT1 mutations.