Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke‐Ollendorff syndrome

Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke‐Ollendorff syndrome

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 c...

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Bibliographic Details
Published in:Pediatric dermatology 2020-03, Vol.37 (2), p.385-387
Main Authors: Velasco Huici, Rebeca, Martín, Jose María, Vázquez, Bárbara, Silva, Esmeralda, Estébanez, Andrea, Cuesta, Ana, Ramón, Dolores, Monteagudo, Carlos
Format: Article
Language:eng
Subjects:
Adult
Biopsy
Bone lesions
Buschke‐Ollendorff syndrome
Case reports
Child
connective tissue disorders
Connective tissues
Dermatology
dermatopathology
elastorrhexis
Female
Genetic disorders
genodermatoses
Genodermatosis
Humans
Male
Osteopoikilosis - complications
Osteopoikilosis - etiology
Osteopoikilosis - genetics
Osteopoikilosis - pathology
Pathology
Pediatrics
Skin Diseases - etiology
Skin Diseases, Genetic - complications
Skin Diseases, Genetic - genetics
Skin Diseases, Genetic - pathology
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Summary: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.
ISSN:0736-8046
1525-1470