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.
Patient 4, a 15-year-old girl, was the only daughter of nonconsanguineous parents. Both her parents were healthy with no cutaneous anomalies. The girl was born at 40 weeks by normal delivery, with a birthweight of 3300 g, a height of 50 cm, and a head circumference of 35 cm. She first came to our observation at the age of 2 years, due to psychomotor delay. The parents noticed the presence of cutaneous spots at about 3 months of age. Since her first year of life, the girl showed mild body asymmetry. At physical examination, at age 2 years, the girl showed typical hypopigmented lesions along the lines of Blaschko, mainly in the trunk and the upper and lower limbs (particularly evident over the right part of the body). During these years, the girl manifested moderate cognitive delay, poor school performance, and generalized tonic-clonic seizures, with a frequency of 6 to 8 episodes per year despite valproate treatment. At the age of 6 years, clobazam was added to the valproate regimen and the frequency of seizures decreased. An EEG revealed generalized spike and wave discharges. Currently, her physical examination reveals a weight of 70 kg and a height of 174 cm (both falling in the 90th percentile). Her school performance remained poor. The diameter of the biceps region of the right limb was 3 cm larger than the contralateral. Her right thigh diameter was 66 cm and her left thigh diameter was 57 cm (Figure ): the sural right lower limb diameter was 43 cm, compared with the left, which measured 40 cm. The right lower limb length was 103 cm, whereas the left was 100 cm. Facial asymmetry was also present, but to a milder degree. She currently walks with unstable equilibrium with frequent falls down. A color Doppler ultrasound examination of her limbs showed normal laminar flow, with a wider diameter of the arteries in the affected right limb (Figure A and B). Brain MRI was normal as her ophthalmological examination. Spinal x-ray examination revealed mild left kyphoscoliosis. Skin biopsy was not performed.