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

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...

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Bibliographic Details
Published in:	Pediatric dermatology 2017-11, Vol.34 (6), p.e345-e346
Main Authors:	Condorelli, Alessandra, Musso, Nicolo, Scuderi, Laura, Condorelli, Daniele F., Barresi, Vincenza, De Pasquale, Rocco
Format:	Article
Language:	eng
Subjects:	Bone lesions Case reports Child DNA-Binding Proteins Elastic Tissue - pathology Exons Female Germ-Line Mutation Humans Membrane Proteins - genetics Mutation Nuclear Proteins - genetics Osteopoikilosis - genetics Sequence Analysis, DNA Skin - pathology Skin diseases Skin Diseases, Genetic - genetics
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Summary:	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.
ISSN:	0736-8046 1525-1470