PA19 A rare case of Buschke–Ollendorff syndrome

Abstract We present a case of Buschke–Ollendorff syndrome (BOS) in 6-year-old girl. The BOS is rare genodermatosis distinguished by the presence short stature and skeletal connective tissue defects. This patient first attended dermatology department with history small asymptomatic dermal papules nodules noted overlying skin on her abdomen since age 2 years. They became more numerous evolved over right buttock left posterior calf. Subsequent investigation ultrasound imaging illustrated that these lesions were elasotomas and, separate occasions, also suggested possibility lipoma or collagenoma, ruled out sarcoma malignancy. Skeletal survey upper limbs, hands, pelvis, lower limb both feet highlighted well-defined sclerotic involving periarticular regions. condition was again confirmed clinical geneticists who advised future family planning confirmatory testing would identify LEMD3, responsible for this autosomal dominant condition. There no genetic disorder within family, but it patients parents had stature, which another hallmark feature On successive reviews, continued to display gradual enlargement elastomas developed other cutaneous manifestations, including congenital naevi. report contributes appreciation manifestation uncommon