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]

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

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

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]

• Swelling

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

  The aspirate from the swelling was an aseptic, thick milky liquid, with granular hyaline and calcific material. The lobulated swelling was removed surgically. [cags.org.ae]

  This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood and the symptoms persist into adulthood. [fmfandaid.org]

  Painful juxtaarticular inflammatory swelling was present at the ankles, knees, and wrists. There was no organomegaly or rash. [jrheum.org]

• Severe Pain

  Intra-epidermal neutrophils. [18] [53] Neurologic: High fevers last for a few days with flares and severe pain. Other neurological symptoms are not noted. [autoinflammatory-search.org]

  Symptoms usually appear soon after birth and include attacks lasting several days of: fever severe pain joint swelling As in all the inherited fever syndromes there are raised levels of inflammatory markers. [amyloidosis.org.uk]

  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]

  This bone inflammation can lead to many health complications, including slow growth, joint deformities (contractures) and severe pain. Patients with Majeed syndrome also have a blood disorder called Dyserythropoitic anemia. [autoinflammatory.org]

• Turkish

  Conclusion We describe a novel mutation of the LPIN2 gene in two Turkish brothers with Majeed syndrome. [ped-rheum.biomedcentral.com]

  Conversely, another affected individual with a splice site variant [ Al-Mosawi et al 2007 ] and two affected Turkish brothers with a frameshift variant [ Herlin et al 2013 ], who were all diagnosed and treated early, had a less complicated course. [ncbi.nlm.nih.gov]

  Targeted analysis for MEFV pathogenic variants can be performed first in individuals of Armenian, Turkish, Arab, North African Jewish, Iraqi Jewish, or Ashkenazi Jewish ancestry. [centogene.com]

  One sibling developed the disease at three weeks and the other sibling at two months of age.(7) MS has been previously described in consanguineous Arab, Turkish, and Indian families only. [archivesofrheumatology.org]

• Poor Growth

  In the long term there may be poor growth and limb contractures. Treatment is with non-steroidal anti-inflammatory drugs (NSAIDS) and corticosteroids. [amyloidosis.org.uk]

  […] delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Inflammatory abnormality of the skin Skin inflammation 0011123 Osteomyelitis Bone infection 0002754 Showing of 35 | Last updated: 12 [rarediseases.info.nih.gov]

  Due to ongoing nocturnal bone pain, new lesions on MRI with synovitis adjacent to bone lesions, intermittent high inflammatory markers (ESR highest 190, CRP highest 134, Hb lowest 69) and poor growth (0.4th centile for weight and height), IL-1 blockade [academic.oup.com]

• Weight Gain

  Corticosteroids are associated with possible side effects such as weight gain, swelling of the face and mood swings. [printo.it]

  This resulted in resolution of bone pain, significant improvement of bone lesions on MRI scan, normalization of inflammatory markers (ESR 2, CRP 0.2, Hb 107), improved appetite with weight gain, improved sleep and school attendance, and significant improvement [academic.oup.com]

• Aspiration

  In addition, bone marrow aspiration demonstrated significant dyserythropoiesis, suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. [ncbi.nlm.nih.gov]

  The aspirate from the swelling was an aseptic, thick milky liquid, with granular hyaline and calcific material. The lobulated swelling was removed surgically. [cags.org.ae]

  Bone marrow aspiration was consistent with congenital dyserythropoietic anemia (CDA) with 6% - 9% bi- or multinucleated erythrocytes. [ped-rheum.biomedcentral.com]

  Teachers who aspired for entrepreneurship were more entrepreneurial than the teachers who did not have such an aspiration. [pertanika.upm.edu.my]

• Failure to Thrive

  […] 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]

  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]

  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]

• Ulcer

  […] of the cornea (peripheral ulcerative keratitis). [rarediseases.org]

  Symptoms usually start at around age 2, and include recurrent fever with one of the following: mouth ulcers swollen glands in the neck sore throat Children are completely well between attacks, and there are no signs of respiratory infection during the [amyloidosis.org.uk]

  Some patients have petechiae or purpura, and even painful aphthous mouth or vaginal ulcers. [nomidalliance.org]

  Some had these symptoms when not in a fever episode. 18 patients had severe GI symptoms including aseptic peritonitis, GI bleeding, perianal ulcers, intestinal occlusion, gut perforation, and GI ulcers. [saidsupport.org]

  Also note that Renflexis is not a least cost brand for Crohn’s disease and ulcerative colitis indications. See also CPB 0770 - Rilonacept (Arcalyst). [aetna.com]

• Skin Lesion

  […] cutaneous: Most patients have inflammatory dermatosis, Sweet’s syndrome, pustular skin lesions, psoriasis. [autoinflammatory-search.org]

  The skin lesions in SAPHO syndrome are characterised on skin biopsy by collections of inflammatory cells, known as neutrophilic pseudoabscesses. [dermnetnz.org]

  Biopsy of a skin lesion showed lots of neutrophils in the tissues and fluid in the dermal skin layer (uppermost part of dermis), these findings being consistent with Sweet’s syndrome. [helpforsweetssyndromeuk.wordpress.com]

  A similar lesion was seen involving the lateral three fingers of the left hand. 3. A linear epidermal verrucous naevus in the midline, extending from below the umbilicus to the pubic region. 4. [ijdvl.com]

  Papules are solid, raises lesions; nodules are slightly larger and may extend deeper into the skin. [rarediseases.org]

• Erythema

  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]

  […] pemphigoid Cutaneous leukocytoclastic angiitis Dego’s disease (thrombotic vasculopathy) Dercum’s disease Dermatitis herpetiformis Dermatomyositis Diffuse cutaneous systemic sclerosis Discoid lupus erythematosus Eczema Epidermolysis bullosa acquisita Erythema [customhealthpharmacy.com]

  Less common manifestations of FMF include the following 2 : Protracted febrile myalgia Erysipelas-like erythema Vasculitides Recurrent urticaria Aseptic meningitis Reduced fertility Decreased atopy Chronic ascites Psychological features including depression [centogene.com]

  Neutrophils in the tissues are characteristic of ND, but the absence of dermal oedema rules out Sweet’s syndrome, while no vasculitis excludes the ND, erythema elevatum diutinum. [helpforsweetssyndromeuk.wordpress.com]

• Skin Plaque

  Bortezomib-induced Sweet’s syndrome causes fever, weakness and lack of energy, painful round reddened and swollen skin plaques on the head, neck, or trunk. Skin biopsy tends to show immature or mature neutrophils in the tissues (Ibid). [helpforsweetssyndromeuk.wordpress.com]

• Joint Swelling

  This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood and the symptoms persist into adulthood. [fmfandaid.org]

  Very few documented cases at this time. [18] [53] Timing of symptoms: Flares last for a few days, with 1-4 exacerbations a month of high fevers, severe pain, and joint swelling. [18] [53] Age of onset: Most present with symptoms in infancy to early childhood [autoinflammatory-search.org]

  CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. [rarediseases.org]

  Symptoms usually appear soon after birth and include attacks lasting several days of: fever severe pain joint swelling As in all the inherited fever syndromes there are raised levels of inflammatory markers. [amyloidosis.org.uk]

• Bone Pain

  Bone pain. Bone biopsy shows no infection. Early-onset Chronic Recurrent Multifocal Osteomyelitis (CRMO). [autoinflammatory-search.org]

  Transient improvement in bone pain (partial improvement of bone lesions on MRI scan) was observed with a slight improvement in inflammatory markers. [academic.oup.com]

  Abstract Chronic recurrent multifocal osteomyelitis is an autoinflammatory disorder characterized by bone pain and fever, a course of exacerbations and remissions, and a frequent association with other inflammatory conditions. [doi.org]

  CRMO presents in patients with periodic fevers, bone pain and bone lesions that can develop anywhere in the body. This is a rare disease, that has been found to affect more girls than boys. [autoinflammatory.org]

  […] doi: 10.1097/BLO.0b013e3180986d73 SECTION I: SYMPOSIUM: Genetics in Orthopaedics Abstract Author Information Chronic recurrent multifocal osteomyelitis is an autoinflammatory disorder characterized by bone pain and fever, a course of exacerbations and [journals.lww.com]

• Joint Deformity

  CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. [rarediseases.org]

  This bone inflammation can lead to many health complications, including slow growth, joint deformities (contractures) and severe pain. Patients with Majeed syndrome also have a blood disorder called Dyserythropoitic anemia. [autoinflammatory.org]

  CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. CDA is one of many types of anemia, all of which involve a shortage of red blood cells. [fmfandaid.org]

• Arthralgia

  Joint pains There are often joint pains (arthralgias or arthritides), but generally NO tissue and cartilage changes can be seen on X rays. [autoinflammatory.org]

  Showing of 35 | 80%-99% of people have these symptoms Abnormality of bone marrow cell morphology 0005561 Arthralgia Joint pain 0002829 Bone pain 0002653 Cachexia Wasting syndrome 0004326 Chronic recurrent multifocal osteomyelitis 0005901 Congenital hypoplastic [rarediseases.info.nih.gov]

  Musculo-skeletal involvement is frequent and characterized by myalgia, arthritis and/or arthralgia. Arthritis occurs in about 25 to 41% of cases [ 10 ]. [ijponline.biomedcentral.com]

  Etanercept IL-1 inhibition IL-6 inhibition - TRAPS Myalgia Serositis Periorbital edema Traveling rash 7 - 10 days Dominant TNFRS1A Prednisone Etanercept IL-1 inhibition IL-6 inhibition ++ Cryopyrin-associated periodic syndromes (CAPS) -FCAS Urticaria Arthralgia [clevelandclinicmeded.com]

  Febrile attacks were mostly associated with arthralgia (90.9%); lymphadenopathy, abdominal pain, and skin lesions (86.4%); pharyngitis (63.6%); cough (59.1%); diarrhea, and hepatosplenomegaly (50.0%). Seven patients had psychiatric symptoms (31.8%). [saidsupport.org]

• Myalgia

  […] 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 blood leukocyte number [ more ] 0001974 Myalgia [rarediseases.info.nih.gov]

  Less common manifestations of FMF include the following 2 : Protracted febrile myalgia Erysipelas-like erythema Vasculitides Recurrent urticaria Aseptic meningitis Reduced fertility Decreased atopy Chronic ascites Psychological features including depression [centogene.com]

  Amyloidosis risk FMF Serositis Arthritis Rash Recessive MEFV Colchicine IL-1 inhibition +++ HIDS Cervical adenopathy Rash Arthritis Headache Triggered by vaccine 3 - 5 days Recessive MVK Prednisone Etanercept IL-1 inhibition IL-6 inhibition - TRAPS Myalgia [clevelandclinicmeded.com]

  Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis 2012;35:1119-28. Carman GM, Han GS. Roles of phosphatidate phosphatase enzymes in lipid metabolism. Trends Biochem Sci 2006;31:694-9. [archivesofrheumatology.org]

  Individuals with Sweet syndrome also experience fever, fatigue, headaches, a general feeling of ill health (malaise), muscle pain (myalgia), and inflammation and pain of the joints (arthritis and arthralgia). [rarediseases.org]

• Suggestibility

  In addition, bone marrow aspiration demonstrated significant dyserythropoiesis, suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. [ncbi.nlm.nih.gov]

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

  We thus suggest that IL-1RA treatment could be an alternative for patients with CRMO refractory to conventional therapies.1,7–10 Likewise, the results obtained support the idea (suggested by other studies) that IL-1 dysregulation might play an important [elsevier.es]

  A bone biopsy was suggested, but her parents refused the request. The patient was started on naproxen treatment (10 mg/kg twice daily). [cags.org.ae]

  Given the involvement of IL-1 in Majeed syndrome, it strongly suggests impaired lipid metabolism increases IL-1 production. [academic.oup.com]

• Irritability

  ACAFARMUR @acafarmur #FARMACIA : Irritable bowel syndrome: new and emerging treatments http://t.co/jP126TvbnJ 18 Aug 2015 Reply Retweet Favourite 10,810 followers S.E.F.H @sefh_ Síndrome intestino irritable: opciones actuales de tratamiento #boletinsefh [bmj.altmetric.com]

  Abstract: (EN) The present invention discloses a process for the therapeutic management of diarrhea predominant irritable bowel syndrome in humans comprising the oral administration of Bacillus coagulans SBC37-01, MTCC 5856 (containing not less than 2 [patentscope.wipo.int]

  We describe a consanguineous Pakistani family where the index child presented in infancy with a conglomeration of features indicative of possible Majeed syndrome: failure to thrive, recurrent fevers, irritability, limb pains, osteitis on whole body MRI [academic.oup.com]

  Majeed reported a Palestinian Arab boy who presented at the age of 2 months with recurrent episodes of high fever and irritability [12]. [bmcmedgenet.biomedcentral.com]

  Chronic subacute bowel obstruction caused by carcinoid tumour misdiagnosed as irritable bowel syndrome: a case report. Cases J. 2009 Jan 22. 2(1):78. [Medline]. [Full Text]. Metcalfe DD. [emedicine.medscape.com]

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

• Microcytic Anemia

  anemia, ranging from mild to transfusion-dependent, in the first year of life, and transient inflammatory dermatosis manifesting as Sweet syndrome (neutrophilic dermal infiltration). [newmedicalterms.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]

  Patients also have congenital dyserythropoietic anemia (CDO) leading to hypochromic, microcytic anemia with onset in the first year of life. Transient inflammatory dermatosis, often manifesting as Sweet syndrome, is also common. [genedx.com]

  He had recurrent fever and mild to moderate hypochromic and microcytic anemia without severe CRMO. He had no physical pain, swelling, or movement disorders. [bmcmedgenet.biomedcentral.com]

  0004810 Fever 0001945 Hypochromic microcytic anemia 0004840 Metaphyseal irregularity Irregular wide portion of a long bone 0003025 Papule 0200034 Pustule Pimple 0200039 30%-79% of people have these symptoms Acne 0001061 Edema Fluid retention Water retention [rarediseases.info.nih.gov]

• 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]

• 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]

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 primary purpose of this group was to conduct and to coordinate investigations involving the etiology and the clinical, pathological, [jamanetwork.com]

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]

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]

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]

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]