Patient 3, a 10-year-old boy, was born by normal delivery. His parents did not show cutaneous anomalies. He was admitted for consultation due to episodes of generalized tonic-clonic seizures lasting several minutes: seizures had started at age 2 years. He showed neurodevelopmental delay from his first months of life: his current school performance is poor. An electroencephalographic (EEG) examination revealed spike and wave discharges in the temporal and parietal regions. Treatment with sodium valproate substantially reduced the frequency of seizures. At physical examination, he weighted 34 kg, with a height of 141 cm (75th percentile). The hypopigmented lesions were localized in the thorax and in the back, mainly on the left side. The diameter of the sural region of the lower left limb was 8 cm larger than the contralateral, and the diameter of the biceps region of the left limb was 3 cm larger than the contralateral. The left lower limb was 2 cm longer than the right. The asymmetry involved also the left hemiface. A lower-limb MRI showed increased growth in both long bones and soft tissues. Mild thoracolumbar right kyphoscoliosis was noticed. Brain MRI and ophthalmologic examination were both normal.
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.