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 8, a 25-year-old male, had no family history of cutaneous anomalies. His cutaneous anomalies were localized over the trunk and the limbs, particularly on the right (Figure ). The stature was 181 cm (75th percentile). The right upper limb diameter was 2 cm larger as compared with the left; the right lower limb diameter was 4 cm larger. Lower limb length discrepancy was 5 cm (the right side was longer). There was mild involvement of the right hemiface. Left kyphoscoliosis was present (20 degree of Cobb). The man attended school with good scores. No seizures had been recorded.