Premium
Juvenile elastoma without germline mutations in LEMD 3 gene: A case of Buschke‐Ollendorff syndrome?
Author(s) -
Condorelli Alessandra,
Musso Nicolo,
Scuderi Laura,
Condorelli Daniele F.,
Barresi Vincenza,
De Pasquale Rocco
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13287
Subject(s) - exon , medicine , germline , germline mutation , girl , intron , genodermatosis , mutation , dermatology , pathology , gene , genetics , biology
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.