Hyperpigmented Connective Tissue Nevus in Buschke-Ollendorff Syndrome: A Case Report / 대한피부과학회지

ABSTRACT

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant inherited genetic cutaneous disorder characterized by connective tissue nevi that may or may not be accompanied by sclerotic bone lesions (osteopoikilosis). BOS is caused by loss-of-function mutations in LEMD3. Skin lesions appear in childhood and may increase in size and number with age and primarily manifest as yellow or skin-colored plaques or papules. A 21-year-old male presented with brownish, firm plaques on his back and buttocks since childhood. He revealed a history of similar skin lesions in his mother and brother. He was incidentally diagnosed with osteopoikilosis, 2 years prior to presentation. Histopathological examination of a skin biopsy specimen revealed increased collagenous stroma. We report a rare case of Buschke-Ollendorff syndrome that presented with brownish plaques.