Patient 3, a 10-year-old boy, was born by normal delivery. His parents did not show cutaneous anomalies. He was admitted for consultation due to episodes of generalized tonic-clonic seizures lasting several minutes: seizures had started at age 2 years. He showed neurodevelopmental delay from his first months of life: his current school performance is poor. An electroencephalographic (EEG) examination revealed spike and wave discharges in the temporal and parietal regions. Treatment with sodium valproate substantially reduced the frequency of seizures. At physical examination, he weighted 34 kg, with a height of 141 cm (75th percentile). The hypopigmented lesions were localized in the thorax and in the back, mainly on the left side. The diameter of the sural region of the lower left limb was 8 cm larger than the contralateral, and the diameter of the biceps region of the left limb was 3 cm larger than the contralateral. The left lower limb was 2 cm longer than the right. The asymmetry involved also the left hemiface. A lower-limb MRI showed increased growth in both long bones and soft tissues. Mild thoracolumbar right kyphoscoliosis was noticed. Brain MRI and ophthalmologic examination were both normal.
Patient 5 was a 18-year-old female who first came to our observation at the age of 24 months due to language delay. Her psychomotor development was also delayed. Convergent strabismus was present, with no anomalies at fundoscopy. Mild dysmorphic features were present, including epicanthic folds and hypotelorism. Physical examination revealed that her height was 175 cm (in the 90th percentile). The hypopigmented lesions were widely diffused in the trunk, particularly on the right side. The right upper limb diameter was 4 cm larger than the left side, and the right lower limb diameter was 7 cm larger and 3 cm longer than the left. Also, the right hemiface was involved by the disturbed growth. EEG and brain MRI were unrevealing. Left kyphoscoliosis was recorded with 10 to 15 degree of Cobb scale.