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.
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?
Musso, Nicolo
Membro del Collaboration Group
;Condorelli, Daniele F.
Membro del Collaboration Group
;Barresi, Vincenza
;De Pasquale, Rocco
2017-01-01
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.File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
Juvenile elastoma wo germline mutations in LEMD3 gene Buschke& Ollendorff syndrome 2017.pdf
solo gestori archivio
Tipologia:
Versione Editoriale (PDF)
Dimensione
202.82 kB
Formato
Adobe PDF
|
202.82 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
