Symptoma

Osteomesopyknosis

Axial Osteosclerosis

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]

  • Recurrent Fractures

    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]

    Radiologically, the bones may be slender or broad due to recurrent fractures. Epiphyses are abnormal, with expansion and islands of calcified (‘popcorn’) cartilage[73]. [slideshare.net]

  • Normal Stature

    She had a normal stature and no history of fractures. [synapse.koreamed.org]

  • 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]

  • Pelvic Pain

    Results: A 49-year-old, perimenopausal female suffered excruciating, intermittent, dull back and pelvic pain for 1.5 years. [journals.aace.com]

    METHODS We studied a 49-year-old female who suffered from back and pelvic pain. Her history was obtained, a physical examination performed, and the laboratory results and imaging diagnostics were studied to describe her disease. [semanticscholar.org]

  • 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]

  • 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 Neurological 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]

  • 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]

  • Increased Bone Density

    Increased bone density without modifcation of bone shape Osteopetrosis precocious type Generalised AR delayed type Type 1 uniform AD intermediate type Type 2 endobones with renal tubular Generalised AR AR acidosis Similar other types Axial osteosclerosis [medical-dictionary.thefreedictionary.com]

    Increased bone density with diaphyseal involvement 26. [normanet.ne.jp]

    Osteopoikilosis is a benign, usually asymptomatic condition characterized by multiple round foci of increased bone density. BOS combines the characteristic bone lesions of osteopoikilosis with connective tissue nevi. [melorheostosis.com]

    Source: Imaging rheumatology: Table 21.3 Causes of increased bone density Cortical and trabecular bone Osteopetrosis Carbonic anhydrase II deficiency Dysosteosclerosis Pycnodysostosis Cortical bone (predominantly) Autosomal dominant osteosclerosis Diffuse [slideshare.net]

  • 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]

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]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

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 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]

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]

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]

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]