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 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.