A 2-month-old girl was referred to the Department of Dermatology for the evaluation of extending hypopigmented skin lesions. At birth, she had multiple linear erythematous erosive skin defects, which became linear, hypopigmented patches with irregular border on the face, scalp, trunk, and both extremities (). We received the patient's consent form about publishing all photographic materials. The patient had a history of intrauterine growth retardation as a prenatal problem. There was no specific family history, and her two siblings were normal.\nThe patient also presented multiple congenital anomalies. Physical examination revealed patchy alopecia of the scalp, hypoplastic nails, and irregular gingiva with conical teeth. Ocular examination showed bilateral aniridia, moderate to severe microphthalmia, and unilateral corneal central opacity of the left eye (). The retinal vessels of both eyes were uncertain on fundus examination. Musculoskeletal examination revealed syndactyly of toes (), hypoplasia and clinodactyly of fingers, and coccyx deviation. Chromosomal analysis on peripheral blood lymphocytes showed normal karyotype (46, XX) (), and no mutation was found in IKBKG gene test. Therefore, the patient was diagnosed with HI with multiple congenital anomalies.\nTo manage the associated musculoskeletal anomalies, the patient was referred to the Department of Pediatric Orthopedic Surgery and underwent surgical treatment of toe syndactyly. For proper management of the other anomalies, she had been undergoing pediatric, ophthalmologic, and dermatological regular check-up.
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.