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

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.

Buschke‐Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition

“…1 Skin lesions in BOS appear in patients as firm, yellowish, or skin-colored papules or plaques on the extremities and trunk. 2 The clinical manifestations of this syndrome are quite variable. Cutaneous and skeletal lesions may occur independently as the affected persons may not present the full phenotype.…”

“…Buschke‐Ollendorff syndrome (BOS; OMIM 166700) is a rare connective tissue disorder characterized by connective tissue nevus and osteopoikilosis, which was first described by Buschke and Ollendorff in 1928 1 . Skin lesions in BOS appear in patients as firm, yellowish, or skin‐colored papules or plaques on the extremities and trunk 2 . The clinical manifestations of this syndrome are quite variable.…”