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 6, a 20-year-old male with no noticeable familial cutaneous anomalies, was first referred for a diagnostic work-up regarding his cutaneous manifestations, which were diffuse, as patches, and primarily found on his left side. He had been first referred at age 3 years due to his severe psychomotor delay and for generalized tonic-clonic seizures. The EEG, at that age, revealed spike and wave discharges, prevalent in the frontal regions. Moderate cognitive delay was present. At his most recent physical examination, his stature was 175 cm (50th percentile): his left upper limb was 3 cm larger than the right, and the left lower limb 6 cm larger than the right. The left lower limb was 2.5 cm longer than the right. The ears were bilaterally large and cupped with an enlargement of the left hemiface. Mild right kyphoscoliosis was recorded. Brain MRI was normal. Skin biopsy was not performed.