Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke‐Ollendorff syndrome?

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 LEMD 3 are pathogenic for Buschke‐Ollendorff syndrome. Analysis of all exons and exon‐intron junctions of LEMD 3 did not reveal any germline mutations.