1 3 Rheumatol Int DOI 10.1007/s00296-014-3160-6 Rheumatology INTERNATIONAL ORIGINAL ARTICLE - CASES WITH A MESSAGE Osteopoikilosis: report of a familial case and review of the literature Muhammet Furkan Korkmaz · Murat Elli · Mehmet Burak Özkan · Meltem Ceyhan Bilgici · Ayhan Dag ˘ demir · Merve Korkmaz · Fevziye Canbaz Tosun Received: 2 July 2014 / Accepted: 15 October 2014 © Springer-Verlag Berlin Heidelberg 2014 Keywords Osteopoikilosis · Osteosclerotic dysplasia · Osteoblastic metastasis · Osteopathia condensans disseminata Introduction Osteopoikilosis (osteopathia condensans disseminata, spot- ted bones) is a benign osteosclerotic dysplasia which is an asymptomatic, rare autosomal dominant condition and rec- ognized by characteristic radiologic involvement [1]. The cause and pathogenesis of osteopoikilosis (OPK) are not known. Prevalence has been estimated to be 1/50,000. Male and female are equally affected, and it may occur at any age [2]. Usually, OPK has an asymptomatic pattern, but 15–20 % patients may have slight articular pain and joint effusion [1]. The diagnosis is often made incidentally by typical radiographic appearance on plain radiographs. Spo- radic forms are presented, but familial occurrence which is due to autosomal dominant pattern of genetic transmission has been reported in various studies [3]. In this study, we report a 17-year-old boy who has been suffering from back pain for a year and has a mother with similar radiologic involvement. Case report A 17-year-old boy was admitted to our pediatric oncology clinic with complaints of low back, leg and hip pains for a year. According to his history, these complaints, which were intensive at night and when he was tired, were often repeated once a month. The patient did not have any other complaints and systemic diseases. Physical examination and ophthalmologic evaluation were normal. He did not Abstract Osteopoikilosis (OPK) is a benign, rare, asymptomatic osteosclerotic bone dysplasia which is inherited as an autosomal dominant trait. It may develop during childhood and persists throughout life. Diagnosis is usually made incidentally according to radiographs. It may be confused with other conditions, such as osteoblas- tic metastases. OPK must be in differential diagnosis when multiple, small, well-defined, symmetric bone lesions are identified on plain radiograph to avoid alarming the patient with more serious disease and misdiagnosis. Bone scin- tigraphy is normal and useful for differential diagnosis. Although it is usually asymptomatic, effusion and joint pain can be found in 15–20 % of patients. In this study, we report a 17-year-old boy who suffers from low back pain and has a mother with similar involvement. He was diagnosed OPK radiologically. We also review the clinical manifestation, pathophysiology, diagnosis and treatment of OPK in this paper. M. F. Korkmaz (*) · M. Korkmaz Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey e-mail: korkmazmfurkan@gmail.com M. Elli · A. Dag ˘ demir Department of Pediatric Oncology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey M. B. Özkan · M. C. Bilgici Department of Pediatric Radiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey F. C. Tosun Department of Nuclear Medicine, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey