Patient 1 was a 4-year-old male who first came to our observation at the age of 3 years, due to episodes of febrile seizures. The parents and the youngest sister were healthy and did not show cutaneous anomalies. He was born by Caesarean section with a birth weight of 3100 g. Psychomotor development was regular. At his first physical examination, he weighted 17 kg, with a height of 101 cm and a head circumference of 51 cm (all within the 50th percentile). The hypopigmented lesions, in the form of whorls, were localized on the upper side of the right trunk and showed a linear pattern in the right lower limb. Limbs were asymmetrical: the asymmetry involved the right lower limb, which was larger than the left of 1 cm in diameter, and of 0.5 cm in the right upper limb compared with its counterpart, the right lower limb was 1 cm longer than the left. No facial asymmetry was present. Apart from the hemi-body asymmetry, the patient did not show other anomalies. Neither cognitive delay nor spine anomalies were present. The right femoral bone age was 1 year older than the left side. No skin biopsy to check for genetic mosaicism was carried out.
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.