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 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.