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Osteomesopyknosis

Axial Osteosclerosis


Presentation

  • Very frequently present symptoms in 80-99% of the cases: Increased bone mineral density Abnormal form of the vertebral bodies Kyphosis Scoliosis Vertebral body sclerosis Occasionally present symptoms in 5-29% of the cases: Abnormal cortical bone morphology[dovemed.com]
  • Osteomesopyknosis presents with chronic, low-grade back pain in the thoracic and lumbar regions. Life expectancy is normal. Height and intellect are not affected. Dense diffuse osteosclerosis of axial spine, pelvis and proximal long bones.[radiopaedia.org]
  • OSTEOMESOPYKNOSIS, Datagenno Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (5) General Ovarian[datagenno.com]
  • She had presented 6 years ago, at the age of 33, with neck pain.[docksci.com]
Pain
  • The disease may produce chronic low-grade back pain in the thoracic and lumbar regions.[journals.aace.com]
  • Osteosclerosis of pelvis, spine, and femoral head Pelvic pain[datagenno.com]
  • Clinically, bone pain, recurrent fractures, back pain, and degenerative arthritis can be presented in ADO. Cranial nerve compression is common in type I ADO. In our case, there was no abnormality in skull X-ray and no symptom except back pain.[synapse.koreamed.org]
  • The signs and symptoms of Osteomesopyknosis may include: Infertility Low back pain Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions.[dovemed.com]
Infertility
  • Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (5) General Ovarian sclerosis Genitourinary Infertility[datagenno.com]
  • The signs and symptoms of Osteomesopyknosis may include: Infertility Low back pain Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions.[dovemed.com]
  • Interestingly, in an animal model of mice with ERCC2 mutation, many symptoms, including osteoporosis, osteosclerosis, and infertility, Fig. 9.5. Paget disease in a 66-year-old man with longstanding disease.[rrnursingschool.biz]
Back Pain
  • CASE A 16-year old girl visited to orthopedic clinic at Daegu Fatima Hospital due to a history of diffuse back pain for 1 year. Back pain was aggravated when she kept sitting or standing for a long time.[synapse.koreamed.org]
  • The signs and symptoms of Osteomesopyknosis may include: Infertility Low back pain Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions.[dovemed.com]
  • Diagnosis - Axial osteosclerosis It is usually diagnosed incidentally in young adults complaining of back pain. Prognosis - Axial osteosclerosis Not supplied. Treatment - Axial osteosclerosis Not supplied. Resources - Axial osteosclerosis[checkorphan.org]
  • It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal.[malacards.org]
Low Back Pain
  • back pain Osteosclerosis of pelvis, spine, and femoral head Pelvic pain[datagenno.com]
  • A younger brother (III7), aged 49 years, also demonstrates identical changes in the pelvis and lumbar spine, but gives a history of chronic low back pain.[dokumen.tips]
  • The signs and symptoms of Osteomesopyknosis may include: Infertility Low back pain Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions.[dovemed.com]
Bone Pain
  • Clinically, bone pain, recurrent fractures, back pain, and degenerative arthritis can be presented in ADO. Cranial nerve compression is common in type I ADO. In our case, there was no abnormality in skull X-ray and no symptom except back pain.[synapse.koreamed.org]
  • Paget disease can be a localized process involving one or more skeletal regions without causing any major clinical symptom or a widespread, severe, bone disorder producing significant clinical signs and symptoms such as bone pain and deformities, increased[rrnursingschool.biz]
Normal Stature
Neck Pain
  • She had presented 6 years ago, at the age of 33, with neck pain.[docksci.com]
Fear
  • The female patient from our case report had to live about 6 years with the fear of suffering from a malignant disease, without having a diagnosis.[docksci.com]
Confusion
  • The radiographic appearances may be confused with osteoblastic metastases, renal bone disease and other sclerosing bone disorders. As routine blood tests and isotope bone scans are normal in osteomesopyknosis, differentiation is readily achieved.[ncbi.nlm.nih.gov]
  • The radiographic appearance may be confused with: diffuse sclerotic metastases renal osteodystrophy other diffuse osteosclerotic disorders, e.g. osteopetrosis, pyknodysostosis Promoted articles (advertising)[radiopaedia.org]
  • Awareness of the existence of this disease entity may avoid confusion with superficially similar sclerosing bone conditions such as osteopetrosis, pyknodysostosis and renal osteodystrophy.[birpublications.org]
  • Clinical description Osteomesopyknosis may be underdiagnosed due to confusion with autosomal dominant osteopetrosis (Albers-Schönberg osteopetrosis, see this term).[orpha.net]
Neglect
  • Osteomalacia due to vitamin D depletion: a neglected consequence of intestinal malabsorption. Am J Med 2000;108:296–300. 13. Whyte MP, Fallon MD, Murphy WA, et al. Axial osteomalacia.[synapse.koreamed.org]
Cervical Cord Compression
  • Tone was increased in all four limbs with hyper-reflexia and equivocal plantar responses, compatible with a moderate spastic tetraparesis and suggestive of cervical cord compression.[dokumen.tips]
Spastic Gait
  • On examination, he was generally well, but walked with a spastic gait and used a stick. His shoulder girdle muscles were wasted and there was fasciculation in the forearms and thighs.[dokumen.tips]
Focal Neurologic Deficit
  • A 34-year-old, otherwise healthy male patient presented with diffuse lower back pain without any focal neurologic deficits. Plain radiographs of the thoracic and lumbar spine did not depict any abnormalities (Fig. 1).[docksci.com]

Workup

Rugger-Jersey Spine
  • Rugger-jersey spine, the major radiologic finding in our case, can be seen in autosomal dominant osteopetrosis (ADO). So, osteomesopyknosis must be distinguished from ADO.[synapse.koreamed.org]

Treatment

  • He is an active member of multiple international societies focusing on bone diseases and their treatment.[books.google.com]
  • […] some cases, due to treatment also.[dovemed.com]
  • Treatment - Axial osteosclerosis Not supplied. Resources - Axial osteosclerosis[checkorphan.org]
  • OSTEOMESOPYKNOSIS, Datagenno Interactive Research Overview Therapies & Treatments Scientific Articles Laboratories Foundations Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (5) General Ovarian[datagenno.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Osteomesopyknosis, usually discovered incidentally on radiographic examination, is a mild form of familial osteosclerosis and must be distinguished from osteopetrosis which carries a worse prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Axial osteosclerosis Not supplied. Treatment - Axial osteosclerosis Not supplied. Resources - Axial osteosclerosis[checkorphan.org]
  • One year after, Maroteaux[ 2 ] reported five members of four different families and named osteomesopyknosis for a sclerosing axial bone disease with autosomal dominant inheritance which has a good prognosis.[synapse.koreamed.org]

Etiology

  • Etiology The genetic basis underlying the disorder is not known. Genetic counseling The disorder appears to follow an autosomal dominant pattern of inheritance. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Camacho Published in Endocrine practice : official journal of the… 2014 DOI: 10.4158/EP13352.CR OBJECTIVE We present a case of osteomesopyknosis, a nonmalignant sclerosing bone dysplasia of the axial skeleton, with unknown etiology and unknown prevalence[semanticscholar.org]
  • Case Report 1, Pauline Camacho 1 1 Osteoporosis and Metabolic Bone Disease Center, Loyola University Medical Center Objective: We present a case of osteomesopyknosis, a nonmalignant sclerosing bone dysplasia of the axial skeleton, with unknown etiology[journals.aace.com]
  • (Etiology) Osteomesopyknosis is inherited in an autosomal dominant manner, but the genetic cause has not yet been identified.[dovemed.com]
  • The disease usually affects individuals over 40 years of age (Klein and Norman 1995) and is particularly common in England (Barker et al. 1980) and Australia (Gardner et al. 1978), which suggests that environmental factors are important in the etiology[rrnursingschool.biz]

Epidemiology

  • Summary Epidemiology The prevalence and incidence of this disorder are not known. It has been reported in fewer than 5 families, primarily in France.[orpha.net]
  • Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br. 1992;74:504–6.[docksci.com]
  • Nerlich AG, Rohrbach H, Bachmeier B, Zink AR: Malignant tumors in two ancient populations: an approach to historical tumor epidemiology. Oncol Rep 2006;16:197-202.[karger.com]
Sex distribution
Age distribution

Pathophysiology

  • Investigations of BMP signaling in FOP may suggest research strategies to characterize altered signaling events that lead to melorheostosis pathophysiology and/or that can be used to identify cellular targets for melorheostosis treatment.[melorheostosis.com]

Prevention

  • Symptoms - Axial osteosclerosis Causes - Axial osteosclerosis Prevention - Axial osteosclerosis Not supplied. Diagnosis - Axial osteosclerosis It is usually diagnosed incidentally in young adults complaining of back pain.[checkorphan.org]
  • How can Osteomesopyknosis be Prevented? Currently, Osteomesopyknosis may not be preventable, since it is a genetic disorder.[dovemed.com]
  • […] hypointense lesions on T1- and T2-weighted images, variable increase of intensity on STIR sequences, very similar to osteomesopyknosis Spinal column, vertebral bodies Any bone can be involved Skeletal Radiol diagnostic radiologic features of this disease can prevent[docksci.com]

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