Patient 2, a 6-year-old girl, was the first born to healthy parents (both parents did not have cutaneous anomalies). The asymmetry was first noticed at birth. Psychomotor development was within normal ranges. At physical examination, she weighted 24 kg (90th percentile), with a height of 115 cm (50th percentile) and a head circumference of 49 cm (50th percentile). The hypopigmented patterns, in the form of whorls and V-shaped arrangements, were more evident in the trunk and in the back, with a linear configuration in the right lower limb. The diameter of the right lower limb was 1 cm larger than the lower left limb; the difference in the upper limb was less pronounced (0.4 cm). The right lower limb was 0.8 cm longer than the left. No hemiface involvement, cognitive delay, epilepsy, or spine anomalies had been recorded. The right femoral bone age was advanced of 1 year compared with the left.
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.