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 5 was a 18-year-old female who first came to our observation at the age of 24 months due to language delay. Her psychomotor development was also delayed. Convergent strabismus was present, with no anomalies at fundoscopy. Mild dysmorphic features were present, including epicanthic folds and hypotelorism. Physical examination revealed that her height was 175 cm (in the 90th percentile). The hypopigmented lesions were widely diffused in the trunk, particularly on the right side. The right upper limb diameter was 4 cm larger than the left side, and the right lower limb diameter was 7 cm larger and 3 cm longer than the left. Also, the right hemiface was involved by the disturbed growth. EEG and brain MRI were unrevealing. Left kyphoscoliosis was recorded with 10 to 15 degree of Cobb scale.