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 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.