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Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke‐Ollendorff syndrome
Author(s) -
Velasco Huici Rebeca,
Martín Jose María,
Vázquez Bárbara,
Silva Esmeralda,
Estébanez Andrea,
Cuesta Ana,
Ramón Dolores,
Monteagudo Carlos
Publication year - 2020
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.14096
Subject(s) - genodermatosis , medicine , pathology , connective tissue , lesion , dermatology , biology , biochemistry , gene
Buschke‐Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.