A 5.5-year-old girl was brought to our hospital with a complaint of disproportionate overgrowth and lengthening of the right leg accompanied by marked hypopigmented lesions over the trunk and legs, which reportedly had become noticeable by 2-weeks postpartum and gradually increased and spread. She was born to non-consanguineous parents and had been under monitoring for delayed speech. On examination, her height and weight were 110 cm (10th to 25th percentile) and 23 kg (75th to 90th percentile), respectively. The dermatological examination was remarkable for hypopigmented patches following the Blaschko lines over the trunk and both legs, more prominently on the right leg (, ), which was thicker and longer (~2 cm) than the left (). Apart from these findings, the systemic examinations, routine haemogram and biochemical tests, and magnetic resonance scans of the cranium and lower extremities were normal. When the Denver Developmental Screening Test was administered for speech delay, it was graded as ‘delayed’, correlating with the age of 3.5 years. After consultation with the dermatology department, a skin biopsy was considered unnecessary.
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.