A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs.

Melorheostosis involving the cervical and upper thoracic spine: radiographic, CT, and MR imaging findings. (1/5)

Melorheostosis, an uncommon mesenchymal dysplasia, rarely affects the axial skeleton. We describe the imaging findings of melorheostosis involving the cervical and upper thoracic spine. Radiographs and CT showed unilateral well-marginated undulating zones of cortical hyperostosis involving multiple vertebrae that were contiguous with a coalescent ossified right paravertebral mass. MR imaging showed zones of signal intensity void on all pulse sequences without contrast enhancement. Conservative management was elected because of lack of interval clinical and imaging changes for 8 years.  (+info)

Case report: severe melorheostosis involving the ipsilateral extremities. (2/5)

 (+info)

Atypical form of melorheostosis improved by pamidronate. (3/5)

BACKGROUND: Melorheostosis is a rare chronic bone disease of unknown etiology that often affects a single limb. AIM: Report a new case of melorheostosis of the ribs improved by pamidronate infusions CASE: A 36-year-old man without any medical history was admitted for a history of one month painful tumefaction on the 7th left rib. The diagnosis of melorheostosis of the rib and the tibia was made. Patient was treated by pamidronate infusions with useful and satisfactory outcome.  (+info)

Bone scintigraphy elucidates different metabolic stages of melorheostosis. (4/5)

Melorheostosis is a rare benign non-hereditary sclerosing dysplasia involving the bone, often in a sclerotomal distribution. we report the case of a 27 years old lady with painful swelling of the left hand and forearm lasting for almost 15 years. The patient experienced aggravation of symptoms and limitation of motion during the past two months. Radiographic assessment revealed hyperostosis involving the left 3(rd) and 4(th) metacarpal bones and corresponding digits as well as the left ulna and distal humerus, with no soft tissue ossification. Angiographic and blood pool images of bone scintigraphy showed increased activity of mid-metacarpal region, corresponding to the sclerotom C-8. Delayed static views showed increased radiotracer uptake of the left 4(th) metacarpal bone and the corresponding digit as well as the left ulna and humerus, but no abnormal osteoblastic activity of the 3(rd) left metacarpal and digit. Histopathologic assessment confirmed the diagnosis of Melorheostosis. The case confirms that even in the same sclerotomal distribution, the multiple foci of involvement can present in different metabolic stages. In fact, the disease does not progress uniformly and different lesions can be seen in dissimilar stages of activity. Hence, metabolic imaging can be important to unmask which of the radiographically detected bony lesions are metabolically active and have the potential to be the source of current patient's symptoms and which of them are old, metabolically inactive and silent lesions, which are not clinically relevant to the patient's complaints.  (+info)

Melorheostosis in children. Clinical features and natural history. (5/5)

Experience in the management of fourteen children with melorheostosis has been reviewed. The principal and presenting clinical features were unilateral soft-tissue contractures associated with inequality of limb length. In contrast to the disease in adults, pain occurred infrequently and was never intense. The average interval between the discovery of the clinical features and the correct diagnosis was six years. The distinctive radiographic feature in the child was an endosteal pattern of hyperostosis marked by streakiness of the long bones and spotting of the small. This differs from the usual subperiosteal or extracortical pattern of hyperostosis seen in adults. The surgical treatment of the contractures proved difficult and recurrence of the deformity was the rule. Distal ischaemia occurred when the chronically contracted and flexed joint was rapidly extended.  (+info)

Melorheostosis is a very rare, progressive bone disorder characterized by the thickening and hardening of the bones' outer covering (periosteum). The name "melorheostosis" means "melting bones," which describes the appearance of the long bones on X-rays. It resembles dripping candle wax flowing down the shafts of the bones.

The condition typically affects one side of the body, often involving the legs and arms, but can also affect the skull, spine, and ribs. The symptoms can vary widely, depending on the location and extent of bone involvement. They may include bone pain, deformities, limited mobility, joint stiffness, and skin changes over the affected bones.

The exact cause of melorheostosis is unknown, but it is not a hereditary condition. It is thought to be related to abnormal blood vessel formation during fetal development, leading to improper bone growth and development. There is no known cure for melorheostosis, but various treatments can help manage symptoms and improve quality of life. These may include pain management, physical therapy, surgery, and other supportive measures.

... is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes ... Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance. ... "Melorheostosis , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional ...
FLNA Melorheostosis with osteopoikilosis; 155950; LEMD3 Membranoproliferative glomerulonephritis with CFH deficiency; 609814; ...
Nevin NC, Thomas PS, Davis RI, Cowie GH (1999). "Melorheostosis in a family with autosomal dominant osteopoikilosis". Am. J. ... 2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis". Nat. ... Additionally, the disease is often associated with melorheostosis, despite the apparent lack of correlation between ... but not sporadic melorheostosis". J. Bone Miner. Res. 22 (2): 243-50. doi:10.1359/jbmr.061102. PMID 17087626. S2CID 28338454. ( ...
Big Brother 12' Recap: Why I Hate Rachel and Love Melorheostosis". Buddytv.com. July 21, 2010. Retrieved July 14, 2013. "Big ...
2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis". Nature ...
Mutations in the LEMD3 gene have been linked to several genetic diseases such as osteopoikilosis, melorheostosis and Buschke- ... but not sporadic melorheostosis". Journal of Bone and Mineral Research. 22 (2): 243-50. doi:10.1359/jbmr.061102. PMID 17087626 ...
... melorheostosis MeSH C05.116.099.708.702.678 - osteopetrosis MeSH C05.116.099.708.702.685 - osteopoikilosis MeSH C05.116.099.708 ...
Melorheostosis Sclerotic bone metastases. In terms of the treatment of Buschke-Ollendorff syndrome, should the complication of ...
... melorheostosis, and lipofibromatous hamartoma Arteriovenous malformations occurring on a limb, before the closure of epiphyses ...
Melorheostosis - Mesenchymal chondrosarcoma - Metaphysis - Metatarsophalangeal joint sprain - Microfracture surgery - Milch ...
Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes ... Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance. ... "Melorheostosis , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional ...
Melorheostosis Leri. J Bone Joint Surg 1936; 18: 991-996.. 7. Campbell CS. Melorheostosis of the upper limb; report of a case. ... Melorheostosis with linear scleroderma. Arch Dermatol 1963; 88: 142-145.. 12. Soffa DJ, Sire DJ, Dodson JH. Melorheostosis with ... was associated with melorheostosis. In one study, scleroderma-like skin changes and melorheostosis were reported to coexist in ... Melorheostosis. Review of the literature and report of an interesting case with a nineteen-year follow-up. J Bone Joint Surg Am ...
Home » A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis ... A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis ... A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. ...
Melorheostosis. At least three mutations in the MAP2K1 gene have been identified in people with melorheostosis. This rare ... The mutations associated with melorheostosis are described as somatic. Somatic mutations occur during a persons lifetime and ... Like the mutations that cause melorheostosis (described above), cancer-associated mutations in this gene are somatic. They ... These changes in bone growth and turnover underlie the bone abnormalities characteristic of melorheostosis. ...
ERN-BOND is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit ec.europa.eu/health/ern. ...
... Zhang C, Dai WD, Yang Y, Tang Q, Yao ZJ ... Melorheostosis is an uncommon, non-genetic, non-developmental, sclerosing dysplasia of bone and adjacent soft tissues, with ... In this review, clinical characteristics of Melorheostosis are discussed and reports in the Chinese literature are summarized. ...
A case of melorheostosis with many other abnormalities (authors transl). / Sakazaki, T.; Yamamoto, A.; Nishiguchi, H. その他. In ... A case of melorheostosis with many other abnormalities (authors transl). T. Sakazaki, A. Yamamoto, H. Nishiguchi, K. Murakami ... A case of melorheostosis with many other abnormalities (authors transl). In: Japanese Journal of Clinical Radiology. 1980 ; ... Sakazaki T, Yamamoto A, Nishiguchi H, Murakami K, Taniwaki M, Saeki Y. A case of melorheostosis with many other abnormalities ( ...
Melorheostosis and Osteopoikilosis. By Popa C, Moisin AC, Tanasescu C, Tanasescu D, Racheriu M ...
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway. Kang H, Jha S, Ivovic A, ... Somatic activating mutations in MAP2K1 cause melorheostosis. Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, ...
Melorheostosis is considered to be a mesodermal disorder of bone and soft tissue. [2, 3] It is a rare condition characterized ... Melorheostosis: A Review of the Literature and a Case Report. Medicina (Kaunas). 2023 Apr 30. 59 (5):[QxMD MEDLINE Link]. [Full ... Three cases of melorheostosis with foot and ankle involvement. Am J Orthop (Belle Mead NJ). 2012 Aug. 41 (8):E115-9. [QxMD ... The lesions of melorheostosis are commonly progressive and spread in a linear fashion. If they cross an open epiphyseal plate ...
VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis. Allbritton-King JD, Maity J, Patel A, Colbert RA, ...
Melorheostosis is a rare bone disease with its etiology still unclear. Leri and Joanny[1] defined melorheostosis as a rare, ... Melorheostosis on the second finger of the hand. Cemal Kural1. , Bülent Tanrıverdi1. , Ersin Erçin1. , Emre Baca1. , Alev Kural ... In conclusion, melorheostosis is a very rare disease in the skeletal system, especially in the hand. In this disease, ... Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome. Singapore Med J 2014;55:e54- ...
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat. Genet. 36, ...
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcif Tissue Int. 2007 Aug. 81 ...
"If Matt thinks melorheostosis is funny, he should look at the video on our Web site showing some of the beautiful little ... According to the New York Post, Hoffman told the other houseguests that his wife had melorheostosis - a rare, progressive bone ... But he gleefully admitted in his confessionals that his wife didnt have melorheostosis "or any other disease." ... children afflicted with this catastrophic disease," Melorheostosis Association chair Kathleen Harper told the Post at the time. ...
The radiographs show localized diffuse cortical thickening that is characteristic of melorheostosis. The condition may be ... classification Conclave Dr Tushar Mehta DVT Fashion Foot footwear forearm Hand i Implants inspiration knee meded Melorheostosis ...
Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. [ ... and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis ...
T Bhattachar Somatic activating mutations in MAP2K1 cause melorheostosis Nat Commun, 2018-04-11;9(1):1390. 2018-04-11 [PMID: ...
Phenotype data for mouse gene Ikzf5. Discover Ikzf5s significant phenotypes, expression, images, histopathology and more. Data for gene Ikzf5 is all freely available for download.
Melorheostosis (Femur and Pelvis). This x-ray shows melorheostosis in the proximal femur and pelvis of a 42-year-old patient. ... Melorheostosis (Dripping Candle Wax). This x-ray shows the "dripping candle wax" appearance of melorheostosis in the femur of a ... Melorheostosis Melorheostosis is a rare developmental disease of cortical bone. It is a mesenchymal dysplasia of the cortex ... Melorheostosis (CT Scan). This CT scan shows the dense bone lesions of melorheostosis in the femur and pelvis. ...
Melorheostosis From NCATS Genetic and Rare Diseases Information Center. * Melorheostosis with osteopoikilosis From NCATS ... A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis. De Ridder Raphaël, et al. Bone 2020 0 ...
Los síndromes de cáncer hereditario se encuentran en todas las especialidades médicas. Aunque representan alrededor del 5% de todas las neoplasias malignas, es de especial importancia identificar a estos pacientes porque, a diferencia de los pacientes con cánceres esporádicos, requieren cuidados especiales a largo plazo ya que su predisposición puede hacer que desarrollen ciertos tumores a una edad relativamente temprana. edad. La mayoría de los cánceres hereditarios están asociados con una "mutación de la línea germinal" que estará presente en todas las células del cuerpo humano. La identificación de pacientes con riesgo de susceptibilidad hereditaria al cáncer depende de la capacidad de caracterizar genes y alteraciones asociadas con un mayor riesgo de cáncer, así como de recopilar antecedentes personales y familiares detallados que ayuden a identificar el modo de herencia, así como a otros miembros de la familia en riesgo de sufrir esta susceptibilidad. La mayoría de los ...
Melorheostosis Cortical bone thickening flowing across joints giving dripping wax appearance. ... Melorheostosis. Cortical bone thickening flowing across joints giving dripping wax appearance.. Share this:. *Click to share on ...
Melorheostosis. •Menieres Disease. •Motion Sickness. •Mucopolysaccharidosis (MPS). •Multiple Sclerosis (MS) (Learn more). • ...
Disorders caused by loss-of-function of LEMD3, including: Osteopoikilosis; Buschke-Ollendorff syndrome (BOS); Melorheostosis ...
Melorheostosis with renal arterio-venous malformation: A case report with review of literature. Author : Lone, Abdul Rashid; ...
Melorheostosis Page: Mucopolysaccharidoses Page: Multifactorial disorders Page: Multiple epiphyseal dysplasia (MED) Page: ...
  • Like the mutations that cause melorheostosis (described above), cancer-associated mutations in this gene are somatic. (medlineplus.gov)
  • Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway. (nih.gov)
  • It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of osteopoikilosis or Buschke-Ollendorff syndrome. (wikipedia.org)
  • When associated with osteopoikilosis and melorheostosis, osteopathia striata is called mixed sclerosing bone dystrophy. (medscape.com)
  • Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (medscape.com)
  • These changes in bone growth and turnover underlie the bone abnormalities characteristic of melorheostosis. (medlineplus.gov)
  • The radiographs show localized diffuse cortical thickening that is characteristic of melorheostosis. (drtusharmehta.com)
  • Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. (wikipedia.org)
  • Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance. (wikipedia.org)
  • Melorheostosis is a rare sclerosing dysplasia wherein the affected bone demonstrates a cortical or endosteal hyperostosis, characterized roentgenographically by the appearance of dripping candle wax (6-8). (medicaljournals.se)
  • Melorheostosis is an uncommon, non-genetic, non-developmental, sclerosing dysplasia of bone and adjacent soft tissues, with deformity of the extremity, pain, limb stiffness and limitation of motion. (irdrjournal.com)
  • At least three mutations in the MAP2K1 gene have been identified in people with melorheostosis. (medlineplus.gov)
  • The mutations associated with melorheostosis are described as somatic. (medlineplus.gov)
  • Le'ri and Joanny[ 1 ] defined melorheostosis as a rare, congenital, non-hereditary disease of unknown etiology first in 1922. (casereportsjointdrs.org)
  • Melorheostosis which is a rare form of hyperostosis characterized by its linear pattern of distribution along the major axis of long bone was initially described by Leri and Joanny in 1922. (medric.or.kr)
  • A case of melorheostosis mostly involving _the right upper extemity as a monomelic type was presented here because of-its rarity of the disease. (medric.or.kr)
  • When CT, MRI, and direct radiography were evaluated together, the diagnosis of melorheostosis with the 'flowing candle wax' appearance was considered in the foreground. (casereportsjointdrs.org)
  • Linear melorheostotic scleroderma (LMS) is a rare sclerodermatous skin change of unknown aetiology, usually associated with a hyperostotic disorder of the underlying long bones known as melorheostosis (1, 2). (medicaljournals.se)
  • Melorheostosis is considered to be a mesodermal disorder of bone and soft tissue. (medscape.com)
  • There are some theories about the etiology of melorheostosis, such as embryogenic metameric disorder, neural infection, vascular disorder, gene disorder, and fibroblast growth factor defect. (casereportsjointdrs.org)
  • Deformities in radiological evaluation, 'flowing candle wax' image in the medulla, and further laboratory examinations enabled us to diagnose the patient with a rare disease, melorheostosis. (casereportsjointdrs.org)
  • In one study, scleroderma-like skin changes and melorheostosis were reported to coexist in approximately 5% of 131 cases (8). (medicaljournals.se)
  • In this review, clinical characteristics of Melorheostosis are discussed and reports in the Chinese literature are summarized. (irdrjournal.com)
  • The disease picture of melorheostosis (Leri-Joanny syndrome). (nih.gov)
  • Melorheostosis(synonyms: candle bone disease, melting wax syndrome, Leri disease) is a rare chronic bone disorder, first described in 1922 by Leri and Joanny. (jocr.co.in)
  • Melorheostosis( synonyms: candle bone disease, melting wax syndrome, Leri disease), first described by Leri and Joanny in 1922[1] , is a rare benign sclerosing bone dysplasia. (jocr.co.in)
  • Around half of cases of isolated Melorheostosis are due to acquired, somatic genetic changes in the MAP2K1 gene. (nih.gov)
  • In cases of melorheostosis without an identified mutation in the MAP2K1 gene, the cause of the condition is usually unknown. (medlineplus.gov)
  • Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis. (nih.gov)
  • 4. Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case. (nih.gov)
  • 7. A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis. (nih.gov)
  • Earlier, the researchers used this method to discover the gene for "dripping candle wax bone disease," a form of melorheostosis in which excess bone growth appears to drip from the bone surface like hot wax. (nih.gov)
  • Melorheostosis: clinicopathological features, diagnosis, and management. (nih.gov)
  • Melorheostosis is a rare condition characterised by hyperostosis (overgrowth) of cortical (outer layer) bone. (contact.org.uk)
  • Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the appendicular skeleton in a limited segmental fashion. (ox.ac.uk)
  • Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. (unipr.it)
  • Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. (nih.gov)
  • The diagnosis is based on a combination of clinical and radiological features, which are used to distinguish Melorheostosis from other bone disorders. (nih.gov)
  • Melorheostosis: observations on a clinical case]. (nih.gov)
  • 11. Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series. (nih.gov)
  • 13. Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study. (nih.gov)
  • Melorheostosis is a rare bone disease. (medlineplus.gov)
  • Another rare disease, Buschke-Ollendorff syndrome , can include melorheostosis. (medlineplus.gov)
  • Melorheostosis, also called "dripping candle wax" disease, is a rare bone condition where excess bone formation can look like dripping candle wax on x-rays. (nih.gov)
  • Isolated Melorheostosis (with no other associated disorders) is typically occurs in people with no family history of the condition. (nih.gov)
  • Melorheostosis isolated to the calcaneus: a case report and review of the literature. (nih.gov)
  • The abnormal bone growth associated with melorheostosis is noncancerous (benign), and it does not spread from one bone to another. (medlineplus.gov)
  • Melorheostosis : two forms, two genes with distinct histology and mechanism along one signaling pathway / Joan Marini. (nih.gov)
  • Melorheostosis is a rare skeletal abnormality that causes abnormal growth of new bone tissue on top of existing bones. (nih.gov)
  • at right, a bone with melorheostosis resulting from a mutation in the SMAD3 gene. (nih.gov)
  • Researchers at the National Institutes of Health have discovered a second gene that causes melorheostosis, a rare group of conditions involving an often painful and disfiguring overgrowth of bone tissue. (nih.gov)
  • Scientists originally speculated that melorheostosis that occurs without the other features of Buschke-Ollendorff syndrome might have the same genetic cause as that syndrome. (medlineplus.gov)
  • To obtain samples, we recruited 15 unrelated melorheostosis patients, who underwent paired biopsies of affected and contralateral unaffected bone for DNA extraction and whole exome sequencing. (nih.gov)
  • Most patients with melorheostosis are asymptomatic. (medscape.com)
  • Fibroblasts from Patients with Melorheostosis Promote Angiogenesis in Healthy Endothelial Cells through Secreted Factors. (nih.gov)
  • When Do Symptoms of Melorheostosis Begin? (nih.gov)
  • The signs and symptoms of melorheostosis usually appear in childhood or adolescence. (medlineplus.gov)
  • Melorheostosis: report of two cases affecting the jaw. (nih.gov)
  • Pain management is required in many cases of melorheostosis. (contact.org.uk)
  • A small percentage of affected individuals also have melorheostosis or other bone abnormalities. (medlineplus.gov)
  • Occupational engagement, fatigue, and upper and lower extremity abilities in persons with melorheostosis. (nih.gov)
  • This suggests that MEK1 inhibition, which is already in trials for cancer, may be a good therapeutic candidate for melorheostosis treatment. (nih.gov)