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  • Title: Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?
    Author: Condorelli A, Musso N, Scuderi L, Condorelli DF, Barresi V, De Pasquale R.
    Journal: Pediatr Dermatol; 2017 Nov; 34(6):e345-e346. PubMed ID: 29023873.
    Abstract:
    We report the case of a 6-year-old Caucasian girl with clinical and histopathologic features of Buschke-Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke-Ollendorff syndrome were found in the girl's mother. Mutations in LEMD3 are pathogenic for Buschke-Ollendorff syndrome. Analysis of all exons and exon-intron junctions of LEMD3 did not reveal any germline mutations.
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