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 1 was a 4-year-old male who first came to our observation at the age of 3 years, due to episodes of febrile seizures. The parents and the youngest sister were healthy and did not show cutaneous anomalies. He was born by Caesarean section with a birth weight of 3100 g. Psychomotor development was regular. At his first physical examination, he weighted 17 kg, with a height of 101 cm and a head circumference of 51 cm (all within the 50th percentile). The hypopigmented lesions, in the form of whorls, were localized on the upper side of the right trunk and showed a linear pattern in the right lower limb. Limbs were asymmetrical: the asymmetry involved the right lower limb, which was larger than the left of 1 cm in diameter, and of 0.5 cm in the right upper limb compared with its counterpart, the right lower limb was 1 cm longer than the left. No facial asymmetry was present. Apart from the hemi-body asymmetry, the patient did not show other anomalies. Neither cognitive delay nor spine anomalies were present. The right femoral bone age was 1 year older than the left side. No skin biopsy to check for genetic mosaicism was carried out.