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.
|Titolo:||Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?|
MUSSO, NICOLO' [Membro del Collaboration Group] (Corresponding)
CONDORELLI, Daniele Filippo [Membro del Collaboration Group] (Corresponding)
BARRESI, VINCENZA (Corresponding)
|Data di pubblicazione:||2017|
|Appare nelle tipologie:||1.1 Articolo in rivista|