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 7, a 22-year-old male, had no family history of cutaneous lesions. At physical examination, his height was 182 cm (75th percentile). The hypopigmented lesions were widely diffused over the trunk and with greater prevalence on the right side (Figure ). Left upper limb diameter was 2.5 cm larger than the right, whereas left lower limb diameter was 6 cm larger. The difference in the lower limb length was 4 cm (left > right). Right hemiface was importantly involved. Cognitive delay was present. An EEG revealed generalized spike and wave discharges, and the patient experiences epileptic seizures of the generalized tonic-clonic type. Fundus examination was normal. Convergent strabismus was noticed. Short and broad nose, macrocrania, and left kyphoscoliosis (20 degree of Cobb) were also recorded. Brain MRI was normal.