Here we present the case histories of 2 male cousins of Indian heritage with Majeed syndrome. [jrheum.org]

Poster presentation Open Access Pediatric Rheumatology 2011 9 (Suppl 1) :P300 https://doi.org/10.1186/1546-0096-9-S1-P300 © Herlin et al; licensee BioMed Central Ltd. 2011 Published: 14 September 2011 Keywords Etanercept Thrombocytosis Anakinra Chronic [ped-rheum.biomedcentral.com]

Definition An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first [uniprot.org]

[…] dermatosis. 1 Affected children present with bone pain, sometimes with fever. [ncbi.nlm.nih.gov]

She presented in the neonatal period with anemia, reticulocytosis, mild neutropenia, hepatosplenomegaly, and transient cholestatic jaundice. [cags.org.ae]

• Soft Tissue Swelling

  tissue swelling anemia, soft tissue swelling, anemia, leg pain, stunted growth, large liver, enlarged liver, muscle contractures, pain [autoinflammatory-search.org]

  Patients develop chronic recurrent multifocal osteomyelitis (CRMO) prior to two years of age that results in several episodes per month of high fever, severe pain, and soft tissue swelling. [genedx.com]

  High fever, severe pain, and periarticular tender soft tissue swelling involving large joints are common symptoms during CRMO. [preventiongenetics.com]

  Each exacerbation consists of high fever, severe pain, and the appearance of periarticular tender soft tissue swelling, mainly involving large joints and occasionally small joints. [ncbi.nlm.nih.gov]

• Ankle Swelling

  Two months later, the patient developed right ankle pain with associated swelling and tenderness. [archivesofrheumatology.org]

• Failure to Thrive

  The proband had typical Majeed syndrome with failure to thrive, hepatosplenomegaly, delayed puberty, and dyserythropoietic anemia with onset of severe CRMO by 2 years of age. [jrheum.org]

  […] to thrive hepatomegaly (large liver) infections (severe or recurrent) neutropenia (decreased neutrophils) onset, childhood onset, infancy osteomyelitis pain, bones or joints puberty, delayed or missing splenomegaly (large spleen) [metagene.de]

  Further failure to thrive, height and weight were below the 5th percentile in the first-described family, and bone age was delayed. All affected individuals had significant hepatosplenomegaly. Blood transfusions were required on several occasions. [altmeyers.org]

  There is a more severe condition, known as Mevalonate Aciduria (MA) that also involves a mutation in the MVK gene, but it is associated with significant, chronic inflammation, dysmorphic facial features, failure to thrive,systemic organ involvement and [nomidalliance.org]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Headache Headaches 0002315 Hepatomegaly Enlarged liver 0002240 Increased bone mineral density Increased bone density 0011001 Leukocytosis Elevated white blood count High white blood count Increased [rarediseases.info.nih.gov]

• Recurrent Diarrhea

  In addition to the classical features of CRMO and anemia, patients exhibited previously unreported features, including abdominal pain, recurrent diarrhea/ear discharge, and erythema nodosum. [jrheum.org]

• Jaundice

  Growth delays in height, and chronic pain are common. [18] [53] Auditory: Not noted. [18] [53] Ophthalamic: Not noted. [18] [53] Cardiopulmonary: Not noted. [18] [53] Abdominal: Hepatomegaly and cholestatic jaundice in the neonatal period, but it is transient [autoinflammatory-search.org]

  She presented in the neonatal period with anemia, reticulocytosis, mild neutropenia, hepatosplenomegaly, and transient cholestatic jaundice. [cags.org.ae]

  In the neonatal period, hepatomegaly, neutropenia, and cholestatic jaundice may occur, but these symptoms are typically transient. [genedx.com]

  […] feature Neutrophilic dermatosis resembling Sweet disease Psoriasis (may be the carriers) Palmoplantar pustulosis Cutaneous pustulosis Acne Other features Other inconsistent features reported include: Liver enlargement (hepatomegaly) Neonatal cholestatic jaundice [dermnetnz.org]

• Flexion Contracture

  The CRMO often leads to delayed bone age, growth failure, and flexion contractures. Patients also have congenital dyserythropoietic anemia (CDO) leading to hypochromic, microcytic anemia with onset in the first year of life. [genedx.com]

  contractures Quality of life can be poor due to: Recurrent pain Chronic anaemia Contractures Muscle atrophy (wasting) due to under-use It is possible carriers may develop the skin features alone, such as psoriasis and pustulosis, although the numbers [dermnetnz.org]

• Ankle Pain

  Two months later, the patient developed right ankle pain with associated swelling and tenderness. [archivesofrheumatology.org]

• Ear Discharge

  In addition to the classical features of CRMO and anemia, patients exhibited previously unreported features, including abdominal pain, recurrent diarrhea/ear discharge, and erythema nodosum. [jrheum.org]

• Slow Speech

  Other features included maxillary hyperplasia, a prominent forehead, absence of sexual development, slow speech, normal cognitive functions, and a negative Ham test. Radiological examination revealed vault thickening in the anterior plane. [cags.org.ae]

An extensive immunology/infectious diseases workup was inconclusive or normal. [academic.oup.com]

• Delayed Bone Age

  sweets syndrome, pustular skin lesions, psoriasis, growth delay, hepatomegaly, cholestatic jaundice, bone pain, periarticular, short stature, delayed bone age, Contractures, Chronic Recurrent Multifocal Osteomyelitis, CRMO, Congenital dyserythropoietic [autoinflammatory-search.org]

  The CRMO often leads to delayed bone age, growth failure, and flexion contractures. Patients also have congenital dyserythropoietic anemia (CDO) leading to hypochromic, microcytic anemia with onset in the first year of life. [genedx.com]

  The 4 children failed to thrive; height and weight were below the 5th percentile with delayed bone age. All had significant hepatosplenomegaly and had required blood transfusions on several occasions. [omim.org]

  […] results in: Delayed bone age Short adult height Permanent flexion contractures Quality of life can be poor due to: Recurrent pain Chronic anaemia Contractures Muscle atrophy (wasting) due to under-use It is possible carriers may develop the skin features [dermnetnz.org]

• Erythroblast

  Erythroblasts have been slightly elevated in Sib A (0.05-0.12 x 10 9 /L), but not in Sib B ( 9 /L). Conclusion: Sustained effect of IL-1 inhibition by canakinumab for the treatment of Majeed syndrome is described. [acrabstracts.org]

  (C) Bone marrow from sibling A shows erythroblasts with binucleated (long thin arrows) and nuclear budding (short thick arrows). [ncbi.nlm.nih.gov]

  The CDA reflects bone marrow ineffective erythropoiesis, with typical morphological abnormalities (e.g. binucleate erythroblasts, inter-nuclear bridging). [academic.oup.com]

• Hemoglobin Increased

  Hemoglobin increased to 9.5 g/dl and ESR fell from 107 mm/h prior to pamidronate to ∼60 mm/h posttreatment. [jrheum.org]

• Macrocytic Anemia

  CDA I is an autosomal dominant disorder (caused by pathogenic variants in CDAN1 ) characterized by macrocytic anemia and occasionally associated with acrodysostosis, nail hypoplasia, and scoliosis. [ncbi.nlm.nih.gov]

• Anisopoikilocytosis

  Peripheral blood smear showed dimorphic red blood cells with anisopoikilocytosis (Figure 5b). Tests for the presence of antinuclear antibodies, RF, and ASO titer were all negative. CRP was 54 mg/L. [archivesofrheumatology.org]

• Multilocular Cyst

  cysts composed of fibrotic stromal cells and osteoclast-like cells. [ncbi.nlm.nih.gov]

Their bone disease and anaemia were refractory to treatment with corticosteroids. [doi.org]

[…] analgesic treatment within two weeks. [elsevier.es]

Treatment There is no standardised therapeutic treatment for Majeed syndrome. The bone inflammation (CRMO) is usually treated with non-steroidal anti-inflammatory drugs (NSAID’s). [kaisz.nl]

Prognosis The long-term prognosis depends on the severity of the symptoms, particularly the severity of the anaemia (dyserythropoietic anaemia) and disease complications. [kaisz.nl]

The prognosis can vary among individuals: some children may go into complete remission when they become adults and some may continue with this disease. [checkorphan.org]

The prognosis can vary among individuals: some children may go into complete remission when they become adults and some may continue with this disease. Notes ↑ El-Shanti, HI; Ferguson, PJ (September 2007). [ipfs.io]

Includes details on symptoms, prognosis, and treatments. [saidsupport.org]

Several observations suggest the contribution of genetic factors to the etiology of chronic recurrent multifocal osteomyelitis. [doi.org]

These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome. [ncbi.nlm.nih.gov]

CRMO is a chronic inflammatory disease of unknown etiology. It primarily affects children and results in recurrent fever and the development of multiple inflammatory bone lesions. [healthcare.uiowa.edu]

The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated." [checkorphan.org]

Clinical and epidemiological research Efficacy of anti-IL-1 treatment in Majeed syndrome Troels Herlin 1, Bente Fiirgaard 2, Mette Bjerre 3, Gitte Kerndrup 4, Henrik Hasle 1, Xinyu Bing 5, Polly J Ferguson 5 1 Department of Pediatrics, Aarhus University [doi.org]

You might also be interested in Internal medicine Occurrence/Epidemiology This section has been translated automatically. MJDS is extraordinarily rare. [altmeyers.org]

Epidemiology Only a small number of families have so far been identified with Majeed syndrome, and all have come from the Middle East. [fmfandaid.org]

Relevant External Links for LPIN2 Genetic Association Database (GAD) LPIN2 Human Genome Epidemiology (HuGE) Navigator LPIN2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LPIN2 No data available for Genatlas for LPIN2 Gene Prediction [genecards.org]

Stone Springer Science & Business Media, ٠٣‏/١٠‏/٢٠٠٩ - 493 من الصفحات Important strides have been made in understanding the pathophysiologic basis of many inflammatory conditions in recent years, but rheumatology remains a discipline in which diagnosis [books.google.com]

TL;DR: An updated classification scheme based on molecular pathophysiology will bring greater clarity to discourse while catalyzing new hypotheses both at the bench and at the bedside, supplanting a clinical classification that has served well but is [typeset.io]

Stone Springer Science & Business Media, 3 oct. 2009 - 493 páginas Important strides have been made in understanding the pathophysiologic basis of many inflammatory conditions in recent years, but rheumatology remains a discipline in which diagnosis is [books.google.es]

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*) Annu Rev Immunol. 2009; 27 :621–68. [ PMC free article ] [ PubMed ] [ Google Scholar ] 5. Dinarello CA. [ncbi.nlm.nih.gov]

When given at the start of an attack, the effect is dramatic, as the attack is usually completely prevented. There is some evidence that tonsillectomy can cure this syndrome, especially in children with persistently enlarged tonsils. [amyloidosis.org.uk]

Prevention - Chronic recurrent multifocal osteomyelitis Not supplied. Diagnosis - Chronic recurrent multifocal osteomyelitis Prognosis - Chronic recurrent multifocal osteomyelitis Since CRMO is an autoinflammatory condition it can wax and wane. [checkorphan.org]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [medlineplus.gov]

It is too soon to tell if early medication treatment for MWS or NOMID/CINCA will prevent or decrease the development of hearing loss, but there is great hope that it will make a significant difference. [autoinflammatory.org]

The drug is well tolerated and although costly, the prevention of a debilitating course of this rare, chronic disease seems to be achievable by canakinumab. Disclosure: M. Glerup, None; B. Fiirgaard, None; C. Høst, None; P. Ferguson, None; T. [acrabstracts.org]