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- W4387014304 abstract "Background: Branchio-oculo-facial (BOF) syndrome is a congenital condition that presents with characteristic branchial skin defects, facial anomalies, and ocular findings. A 5-year-old male presented to our outpatient dermatology clinic for lesions on his bilateral neck present since birth. The lesions started as eroded plaques which were biopsied shortly after birth leading to the initial diagnosis of epidermolysis bullosa simplex. He was managed with wound care without complications. His medical history was notable for a cleft lip which was successfully repaired in infancy. At that time, the patient was referred to a geneticist and a chromosomal microarray analysis was unremarkable. Whole exome sequencing was recommended but not performed due to lack of insurance coverage. The neck lesions grew with the patient over the years. The patient's mother denied new blisters, erosions, or similar skin lesions throughout his childhood. Physical examination revealed well-demarcated pink geometric plaques with overlying scale more prominent on the left than the right neck. A repeat biopsy was performed demonstrating pseudostratified mucinous epithelium overlying a lymphohistiocytic infiltrate in contiguity with the surface epithelium consistent with a hamartoma of respiratory epithelium. Given the history of a cleft palate and the presence of characteristic skin lesions which demonstrated respiratory epithelium histologically, the patient was preliminarily diagnosed with BOF syndrome, which prompted ophthalmologic evaluation. A unique finding in our patient was the lack of ocular findings to date. This patient represents a diagnostic conundrum since his findings are not consistent with other syndromes on the differential and most closely resemble BOF syndrome." @default.
- W4387014304 created "2023-09-26" @default.
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- W4387014304 date "2023-09-01" @default.
- W4387014304 modified "2023-09-26" @default.
- W4387014304 title "41828 A Case of Branchio-Oculo-Facial Syndrome Masquerading as Epidermolysis Bullosa" @default.
- W4387014304 doi "https://doi.org/10.1016/j.jaad.2023.07.434" @default.
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