Osteopoikilosis is an asymptomatic osteosclerotic dysplasia, initially described by Albers-Schönberg and Ledoux-Lebard and associates. This disorder is described as extremely rare. Inherited and sporadic cases of osteopopikilosis have been reported. A Case of familial osteopoikilosis is presented with a brief review of literatures.
Osteopoikilosis

Osteopoikilosis is a familial, rare condition only discovered on radiological examination for a coincident disease. It is characterized by numerous nodules of dense bone in the spongiosa of the metaphysis or in the epiphysial nucleus. They are particularly seen in the small bones of the hands and feet and at the ends of the large bones of the extremities. Most of the bones have been reported as being affected but the skull is rarely involved. This condition is usually symptomless and no specific treatment is necessary. A case of osteopoikilosis is presented with a brief review of literatures.
Extremities ; Foot ; Hand ; Osteopoikilosis ; Skull

Adolescent ; Contracture ; complications ; Humans ; Male ; Osteopoikilosis ; complications ; genetics ; Pelvis

Osteopoikilosis is an osteosclerotic dysplasia of an unknown origin, and this malady is both extremely rare and hereditary and sporadic in nature. It is sometimes asymptomatic and incidentally diagnosed with radiologic images. A familial history and concomitant disease might also be present. In this study, we report on a 31-year-old woman who suffers from pelvic pain and she was diagnosed as having osteopoikilosis around both hip joints by the radiological images. We also review the relevant medical literature.
Adult ; Female ; Hip ; Hip Joint ; Humans ; Osteopoikilosis ; Pelvic Pain

Osteopoikilosis is condensing or sclerosing osteopathy which is generally believed to be congenital anomalies and heriditary in nature. Osteopoikolosis or osteopathia condensans disseminata is a condition which is ralatively rare in the medical literature. It is characterized by a disseminated condensation of the bones of the skeleton without clinical symptoms. Lesion are usually multiple and symmetrically distributed and consist of numerous regularly arranged trabeculae of varying thickness arranged, for accumulated in the epiphyses and metaphyses of long bones, and in the pelvis, hands and feet, but they may be found in any bone; the cranial bones are rarely affected. In view of the rarity of this congenital bone disease, the following 6 examples are recorded.
Bone Diseases ; Epiphyses ; Foot ; Hand ; Osteopoikilosis ; Pelvis ; Skeleton

Osteopoikilosis is a rare, benign hereditary disease, which presents multiple osteosclerotic, and small round nodules in the bone. It is usually detected incidentally by radiological examination. A radionuclide bone scintigraphy is essential in distinguishing osteopoikilosis from osteoblastic metastases, because scintigraphic findings are usually normal in patients with osteopoikilosis. However, there have been no reports about F-18 fluorodeoxyglucose (FDG) PET findings in osteopoikilosis. Herein, we wish to report a case of osteopoikilosis with breast cancer, which could not be seen in either bone scintigraphy or F-18 FDG PET/CT.
Breast ; Breast Neoplasms ; Genetic Diseases, Inborn ; Humans ; Neoplasm Metastasis ; Osteoblasts ; Osteopoikilosis

OBJECTIVETo analyze the imaging features of osteopoikilosis and its diagnosis knowledge.

METHODSThe imaging data of 9 patients with osteopoikilosis were analyzed retrospectively, including 6 familial cases and 3 sporadic cases. In 6 familial cases,there were 4 males and 2 females with an average age of 28 years old ranging from 10 to 63 years. Clinical manifestations of 1 familial case were left knee pain and limitation of activity for 3 years, and other 5 cases without clinical manifestation. In 3 sporadic cases, there were 2 males and 1 female with an average age of 33.7 years old ranging from 25 to 44 years. Three sporadic cases had obvious injury history with following up from 6 to 12 months. All imaging results of 9 cases were observed.

RESULTSThe imaging data of 6 familial osteopoikilosis showed the multiple round or oval nodes within bone with clear margins, uniform density, different size. The occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and carpus and tarus. X-ray features of 3 sporadic osteopoikilosis were similar to that of 6 familial cases and for 6 to 12 months follow-up X-ray features were unchanged.

CONCLUSIONThe imaging features of osteopoikilosis are relatively specific such as the multiple mottling dense focal within bone with clear border and bilateral symmetry, and the focus located on cancellous bone and the diaphyses usually is unaffected. The imaging is a valuable examination for the accurate diagnosis of osteopoikilosis.

Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Osteopoikilosis ; diagnosis ; diagnostic imaging ; Pedigree ; Radiography ; Young Adult

Dwarfism ; etiology ; Humans ; Infant ; Male ; Membrane Proteins ; genetics ; N-Acetylglucosaminyltransferases ; genetics ; Nuclear Proteins ; genetics ; Osteopoikilosis ; complications

Adult ; Female ; Humans ; Male ; Membrane Proteins ; genetics ; Nuclear Proteins ; genetics ; Osteopoikilosis ; genetics ; Pedigree

Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.
Bone Morphogenetic Proteins ; Exons ; Fathers ; Humans ; Introns* ; Korea ; Low Back Pain ; Nuclear Envelope ; Osteopoikilosis* ; Sciatica ; Skeleton ; Transforming Growth Factors ; Young Adult