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.
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.