Patient 2, a 6-year-old girl, was the first born to healthy parents (both parents did not have cutaneous anomalies). The asymmetry was first noticed at birth. Psychomotor development was within normal ranges. At physical examination, she weighted 24 kg (90th percentile), with a height of 115 cm (50th percentile) and a head circumference of 49 cm (50th percentile). The hypopigmented patterns, in the form of whorls and V-shaped arrangements, were more evident in the trunk and in the back, with a linear configuration in the right lower limb. The diameter of the right lower limb was 1 cm larger than the lower left limb; the difference in the upper limb was less pronounced (0.4 cm). The right lower limb was 0.8 cm longer than the left. No hemiface involvement, cognitive delay, epilepsy, or spine anomalies had been recorded. The right femoral bone age was advanced of 1 year compared with the left.
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.