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.
Patient 8, a 25-year-old male, had no family history of cutaneous anomalies. His cutaneous anomalies were localized over the trunk and the limbs, particularly on the right (Figure ). The stature was 181 cm (75th percentile). The right upper limb diameter was 2 cm larger as compared with the left; the right lower limb diameter was 4 cm larger. Lower limb length discrepancy was 5 cm (the right side was longer). There was mild involvement of the right hemiface. Left kyphoscoliosis was present (20 degree of Cobb). The man attended school with good scores. No seizures had been recorded.