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.
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.