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Majeed syndrome(MJDS)

MedGen UID:
351273
Concept ID:
C1864997
Disease or Syndrome
Synonyms: CDA and CRMO; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 1, WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, WITH OR WITHOUT NEUTROPHILIC DERMATOSIS; Chronic recurrent multifocal osteomyelitis, congenital; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; Dyserythropoietic anemia, and neutrophilic dermatosis; MJDS
SNOMED CT: Majeed syndrome (703540008); Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (703540008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): LPIN2 (18p11.31)
 
Monarch Initiative: MONDO:0012316
OMIM®: 609628
Orphanet: ORPHA77297

Definition

Majeed syndrome (MJDS) is an autosomal recessive pediatric multisystem autoinflammatory disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia; some patients may also develop neutrophilic dermatosis. Additional features may include fever, failure to thrive, and neutropenia. Laboratory studies show elevated inflammatory markers consistent with activation of the proinflammatory IL1 (147760) pathway (summary by Ferguson and El-Shanti, 2021). Genetic Heterogeneity of Chronic Recurrent Multifocal Osteomyelitis See also CRMO2 (612852), caused by mutation in the IL1RN gene (147679) on chromosome 2q14; and CRMO3 (259680), caused by mutation in the IL1R1 gene (147810) on chromosome 2q12. [from OMIM]

Additional description

From MedlinePlus Genetics
Majeed syndrome is a rare condition that is characterized by recurrent episodes of fever and inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, Majeed syndrome causes abnormal inflammation that can damage the body's tissues, particularly the bones and, less commonly, the skin. The signs and symptoms of Majeed syndrome typically appear in infancy or early childhood and can vary from person to person.

One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of bone pain and joint swelling. These symptoms continue into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.

Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. This can cause tiredness (fatigue), weakness, pale skin, and shortness of breath. The complications of congenital dyserythropoietic anemia can range from mild to severe.

Some people with Majeed syndrome develop an inflammatory disorder of the skin known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.  https://medlineplus.gov/genetics/condition/majeed-syndrome

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Erythroid hyperplasia
MedGen UID:
4536
Concept ID:
C0014800
Disease or Syndrome
Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Anemia of inadequate production
MedGen UID:
95937
Concept ID:
C0392708
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Decreased mean corpuscular volume
MedGen UID:
1375398
Concept ID:
C0855790
Finding
A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
Microcytic anemia
MedGen UID:
1673948
Concept ID:
C5194182
Disease or Syndrome
A kind of anemia in which the volume of the red blood cells is reduced.
Joint swelling
MedGen UID:
56258
Concept ID:
C0152031
Finding
The presence of swelling in a joint.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Osteomyelitis
MedGen UID:
10497
Concept ID:
C0029443
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Inflammatory abnormality of the skin
MedGen UID:
849741
Concept ID:
C3875321
Disease or Syndrome
The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.

Term Hierarchy

Professional guidelines

PubMed

Li Y, Yu M, Lu M
Pediatr Rheumatol Online J 2022 Oct 17;20(1):90. doi: 10.1186/s12969-022-00728-0. PMID: 36253853Free PMC Article
Ferguson PJ, Sandu M
Curr Rheumatol Rep 2012 Apr;14(2):130-41. doi: 10.1007/s11926-012-0239-5. PMID: 22359228Free PMC Article
Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A
J Clin Immunol 2008 May;28 Suppl 1:S73-83. Epub 2008 Mar 27 doi: 10.1007/s10875-008-9178-3. PMID: 18368292

Recent clinical studies

Etiology

Chen Z, Cheng L, Feng G
Eur Rev Med Pharmacol Sci 2018 Mar;22(5):1380-1386. doi: 10.26355/eurrev_201803_14482. PMID: 29565497
Moussa T, Bhat V, Kini V, Fathalla BM
Int J Rheum Dis 2017 Sep;20(9):1286-1296. Epub 2016 Nov 9 doi: 10.1111/1756-185X.12940. PMID: 27860302
Peleg H, Ben-Chetrit E
Curr Opin Rheumatol 2017 Jan;29(1):4-11. doi: 10.1097/BOR.0000000000000347. PMID: 27755121
Vitale A, Rigante D, Lucherini OM, Caso F, Muscari I, Magnotti F, Brizi MG, Guerrini S, Patti M, Punzi L, Galeazzi M, Cantarini L
Mediators Inflamm 2013;2013:939847. Epub 2013 Jul 21 doi: 10.1155/2013/939847. PMID: 23970817Free PMC Article
Rigante D
Med Sci Monit 2009 Aug;15(8):RA179-87. PMID: 19644432

Diagnosis

Chen Z, Cheng L, Feng G
Eur Rev Med Pharmacol Sci 2018 Mar;22(5):1380-1386. doi: 10.26355/eurrev_201803_14482. PMID: 29565497
Wu JW, Yang H, Wang SP, Soni KG, Brunel-Guitton C, Mitchell GA
J Inherit Metab Dis 2015 Jan;38(1):85-98. Epub 2014 Oct 10 doi: 10.1007/s10545-014-9767-7. PMID: 25300978
Stern SM, Ferguson PJ
Rheum Dis Clin North Am 2013 Nov;39(4):735-49. Epub 2013 Aug 17 doi: 10.1016/j.rdc.2013.05.002. PMID: 24182852Free PMC Article
Rigante D
Med Sci Monit 2009 Aug;15(8):RA179-87. PMID: 19644432
Reue K
Curr Opin Lipidol 2009 Jun;20(3):165-70. doi: 10.1097/MOL.0b013e32832adee5. PMID: 19369868Free PMC Article

Therapy

Chen Z, Cheng L, Feng G
Eur Rev Med Pharmacol Sci 2018 Mar;22(5):1380-1386. doi: 10.26355/eurrev_201803_14482. PMID: 29565497
Shwin KW, Lee CR, Goldbach-Mansky R
Dermatol Clin 2017 Jan;35(1):21-38. doi: 10.1016/j.det.2016.07.005. PMID: 27890235Free PMC Article
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250
Ferguson PJ, Sandu M
Curr Rheumatol Rep 2012 Apr;14(2):130-41. doi: 10.1007/s11926-012-0239-5. PMID: 22359228Free PMC Article
Twilt M, Laxer RM
Curr Opin Rheumatol 2011 Sep;23(5):424-31. doi: 10.1097/BOR.0b013e328349c363. PMID: 21788901

Prognosis

Chavan PP, Aksentijevich I, Daftary A, Panwala H, Khemani C, Khan A, Khubchandani R
J Rheumatol 2021 Dec;48(12):1850-1855. Epub 2021 May 15 doi: 10.3899/jrheum.201663. PMID: 33993107
Zhao Y, Ferguson PJ
Pediatr Clin North Am 2018 Aug;65(4):783-800. doi: 10.1016/j.pcl.2018.04.003. PMID: 30031498
Posso-De Los Rios CJ, Pope E
J Am Acad Dermatol 2014 Apr;70(4):767-773. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005. PMID: 24388422
Twilt M, Laxer RM
Curr Opin Rheumatol 2011 Sep;23(5):424-31. doi: 10.1097/BOR.0b013e328349c363. PMID: 21788901
Jesus AA, Oliveira JB, Hilário MO, Terreri MT, Fujihira E, Watase M, Carneiro-Sampaio M, Silva CA
J Pediatr (Rio J) 2010 Sep-Oct;86(5):353-66. doi: 10.2223/JPED.2015. PMID: 20938587

Clinical prediction guides

Acierno S, Angrisani F, Marino A, Caporali RF, Cimaz R, Giani T
Int J Rheum Dis 2022 Nov;25(11):1333-1338. Epub 2022 Aug 24 doi: 10.1111/1756-185X.14425. PMID: 36004431
Chavan PP, Aksentijevich I, Daftary A, Panwala H, Khemani C, Khan A, Khubchandani R
J Rheumatol 2021 Dec;48(12):1850-1855. Epub 2021 May 15 doi: 10.3899/jrheum.201663. PMID: 33993107
Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, Yang B, Bertola DR, Carneiro-Sampaio M, Ferguson PJ, Renshaw BR, Schooley K, Brown M, Al-Dosari A, Al-Alami J, Sims JE, Goldbach-Mansky R, El-Shanti H
Arthritis Rheum 2011 Dec;63(12):4007-17. doi: 10.1002/art.30588. PMID: 22127713Free PMC Article
Hurtado-Nedelec M, Chollet-Martin S, Chapeton D, Hugot JP, Hayem G, Gérard B
J Rheumatol 2010 Feb;37(2):401-9. Epub 2009 Dec 23 doi: 10.3899/jrheum.090456. PMID: 20032092
El-Shanti HI, Ferguson PJ
Clin Orthop Relat Res 2007 Sep;462:11-9. doi: 10.1097/BLO.0b013e3180986d73. PMID: 17496555

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