Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke‐Ollendorff syndrome. Issue 2 (13th January 2020)

• Record Type: Journal Article
• Authors: Velasco Huici, Rebeca; Martín, Jose María; Vázquez, Bárbara; Silva, Esmeralda; Estébanez, Andrea; Cuesta, Ana; Ramón, Dolores; Monteagudo, Carlos
• Is Part Of: Pediatric dermatology. Volume 37:Issue 2(2020)
• Page Start: 385
• Page End: 387
• Publication Date: 2020-01-13
• Subjects: Buschke‐Ollendorff syndrome -- connective tissue disorders -- dermatopathology -- elastorrhexis -- genodermatoses; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14096
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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.