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Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?
Alessandra Condorelli1, Nicolo Musso2, Laura Scuderi1
1Department of Dermatology, Vittorio Emanuele-Policlinic Hospital, Catania, Italy.
Pediatric Dermatology
|October 13, 2017
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.