Osteopoikilosis
Exostoses, Multiple Hereditary
Epidemiological, clinical and radiological aspects of osteopoikilosis. (1/6)
Osteopoikilosis is a rare condition showing characteristic sclerotic lesions on radiographic examination, which are diagnostic for the trait. We report four patients presenting with various complaints and 49 members of their families who later were found to have osteopoikilosis. The mean age of all 53 was 27.5 years and the male:female ratio was 33:20. Most had lesions in the small tubular bones. We studied the epidemiological, clinical and radiological features of these patients and from the pedigrees conclude that the disease is inherited as an autosomal dominant. (+info)Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. (2/6)
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities. (+info)A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report. (3/6)
Osteopoikilosis is a rare, inherited bone disorder, which is usually found incidentally on x ray. It may be mistaken for other, more serious disorders such as bony metastases, causing undue distress to the doctor and patient. (+info)Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. (4/6)
(+info)Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. (5/6)
(+info)A rare benign disorder mimicking metastasis on radiographic examination: a case report of osteopoikilosis. (6/6)
(+info)Osteopoikilosis is a rare, benign skeletal dysplasia characterized by multiple small, dense spots of sclerotic bone (osteosclerosis) in the spongy part (trabecular) of the bones. These spots are most commonly found in the short tubular bones of the hands and feet, as well as the long bones such as the femur and tibia. The condition is usually asymptomatic and discovered incidentally on X-ray or CT scan. It is typically present at birth or appears in early childhood, and it affects both sexes equally. Osteopoikilosis can be associated with other bone disorders, such as melorheostosis and Buschke-Ollendorff syndrome.
Multiple hereditary exostoses (MHE) is a genetic condition characterized by the growth of multiple benign tumors known as osteochondromas. These tumors typically develop at the ends of long bones near the growth plates and can cause various skeletal deformities, limitations in mobility, and other health issues.
MHE is usually inherited in an autosomal dominant pattern, meaning that a child has a 50% chance of inheriting the condition if one parent has it. However, some cases may result from spontaneous mutations. The condition typically becomes apparent during childhood or adolescence and can affect both sexes equally.
The primary diagnostic feature of MHE is the presence of multiple osteochondromas, which are made up of bone and cartilage. These growths can cause a range of symptoms, including pain, swelling, decreased mobility, and an increased risk of fractures. In some cases, they may also lead to complications such as nerve compression or vascular damage.
Treatment for MHE typically involves surgical removal of the osteochondromas, particularly if they are causing significant symptoms or complications. Regular monitoring is also important to detect any new growths and assess their potential impact on health. In addition, physical therapy and other supportive measures may be recommended to help manage symptoms and maintain mobility.
Human chromosome pair 12 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.
Chromosomes come in pairs, with one chromosome inherited from each parent. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Chromosome pair 12 is the 12th pair of autosomal chromosomes, meaning they are not sex chromosomes (X or Y).
Chromosome 12 is a medium-sized chromosome and contains an estimated 130 million base pairs of DNA. It contains around 1,200 genes that provide instructions for making proteins and regulating various cellular processes. Some of the genes located on chromosome 12 include those involved in metabolism, development, and response to environmental stimuli.
Abnormalities in chromosome 12 can lead to genetic disorders, such as partial trisomy 12q, which is characterized by an extra copy of the long arm of chromosome 12, and Jacobsen syndrome, which is caused by a deletion of the distal end of the long arm of chromosome 12.
Osteopoikilosis
List of OMIM disorder codes
Helene Ollendorff Curth
Enostosis
Poikiloderma
LEM domain-containing protein 3
Melorheostosis
C12orf66
Laminopathy
Malignant infantile osteopetrosis
List of diseases (O)
List of MeSH codes (C05)
Buschke-Ollendorff syndrome
Osteopetrosis
Osteosclerosis
Osteopoikilosis - Wikipedia
A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report | Emergency Medicine Journal
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis | www.ibmc.up.pt
Osteopoikilosis | Profiles RNS
Bone Island Imaging: Practice Essentials, Radiography, Computed Tomography
Dacryocystitis-osteopoikilosis syndrome - Global Genes
View of Osteopoikilosis - Spotted bone
articles • APPLIED RADIOLOGY
Buschke-Ollendorff syndrome: MedlinePlus Genetics
Englisch - Deutsch
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling | Nature...
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Benign Bone Tumors and Cysts - Musculoskeletal and Connective Tissue Disorders - MSD Manual Professional Edition
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Human Metabolome Database: Showing Protein Inner nuclear membrane protein Man1 (HMDBP14557)
Journal of Medical Case Reports | Articles
Namespace
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Bio2Vec
Dacryocystitis Herbal Treatment, Prevention, Symptoms, Causes, Cured By
Basic Science - OrthopaedicsOne Articles - OrthopaedicsOne
What means kick? - Studybuff.com
MRG Incelemesinde Metastazları Taklit Eden Bir Osteopoikiloz Olgusu - Turkish Journal of Physical Medicine and Rehabilitation
Code System Concept
REEP4 and LEMD3 - Wiki-MPM
LEMD37
- Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y. A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. (medlineplus.gov)
- The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. (cdc.gov)
- Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (medscape.com)
- To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. (bvsalud.org)
- We confirm that loss-of-function mutations in the LEMD3 gene can result in either osteopoikilosis or BOS. (bvsalud.org)
- The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified. (bvsalud.org)
- 8. Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis. (whocc.org.cn)
Connective tissue nevi2
- Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. (medlineplus.gov)
- Buschke-Ollendorff syndrome [3] Also known as Dermatofibrosis lenticularis disseminata, is a rare autosomal-dominant disorder characterized by connective tissue nevi and osteopoikilosis. (cyberleninka.org)
Autosomal2
- Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton. (wikipedia.org)
- A rare autosomal dominant syndromic bone disorder characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). (globalgenes.org)
Metastasis1
- Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger. (wikipedia.org)
Benign1
- Osteopoikilosis (OP) is a benign sclerosing bone dysplasia, which may mimic many different bone pathologies. (ftrdergisi.com)
Radiographic3
- The radiographic appearance of osteopoikilosis on an X-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. (wikipedia.org)
- Osteopoikilosis Normal bone scan in a person with osteopoikilosis List of radiographic findings associated with cutaneous conditions Bull M, Calderbank P, Ramachandran N (2007). (wikipedia.org)
- A plain film radiographic image of the knee demonstrates numerous bone islands in a peri-articular distribution that is characteristic of osteopoikilosis. (medscape.com)
Dacryocystitis1
- Newly diagnosed with Dacryocystitis-osteopoikilosis syndrome? (globalgenes.org)
Dysplasia1
- Osteopoikilosis, a skeletal dysplasia, manifests radiographically as multiple bone islands that typically are situated in a periarticular distribution in the epiphyses (and often the metaphyses) of long and short tubular bones, as well as in the pelvis and scapulae (see the image below). (medscape.com)
Syndrome1
- This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. (cdc.gov)
Disorder1
- Osteopoikilosis is a rare, inherited bone disorder, which is usually found incidentally on x ray. (bmj.com)
Case report1
- Osteopoikilosis: A Case Report. (ortopediainfantilyarticular.com.mx)
People2
- This graph shows the total number of publications written about "Osteopoikilosis" by people in this website by year, and whether "Osteopoikilosis" was a major or minor topic of these publications. (ouhsc.edu)
- Below are the most recent publications written about "Osteopoikilosis" by people in Profiles. (ouhsc.edu)
Melorheostosis and Osteopoikilosis2
Lesions2
- An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter). (cdc.gov)
- Buschke-Ollendorff syndrome is characterized by the presence of sclerotic bone lesions (osteopoikilosis and melorheostosis) in association with connective-tissue nevi (collagenomas and elastomas). (medscape.com)
Bones4
- Osteopoikilosis is a condition in which many small, roundish spots are found in the bones, particularly near the joints. (nih.gov)
- Osteopoikilosis, which is from the Greek words for "spotted bones," refers to small, round areas of increased bone density that appear as bright spots on x-rays. (medlineplus.gov)
- Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. (medlineplus.gov)
- Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. (nih.gov)
Connective2
- Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. (medlineplus.gov)
- Connective-tissue nevi and osteopoikilosis tend to first occur in the preadolescent age (average age, 7 years), but they can be found in neonates just after birth. (medscape.com)
Foci1
- Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. (unipr.it)
Symptoms1
- When Do Symptoms of Osteopoikilosis Begin? (nih.gov)
Cases1
- We did not research other cases of osteopoikilosis in our patient's relatives. (rarediseasesjournal.com)
Patient1
- 14. Melorheostosis in a patient with familial osteopoikilosis. (nih.gov)
Type1
- 19. Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis. (nih.gov)