Fig. 1

Representative images of the patient. a Milk coffee spots on the right facial skin (arrow) and right frontal bone bulging (arrow). b X-ray detection: the right lower extremity was longer than the left one. c Nodular thickening skin on right hand back. d Head CT detection: thickening of the local diploic space on the right side of the frontal bone, showing a glass-like density. e Disease gene screening of the lesion samples form the milk coffee spots, and nodular thickening skin at hands and feet. There was a heterozygous point mutation 49G > A (p.Glu17Lys) in the exon region of the AKT1 gene