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.
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.