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Majeed syndrome

MedGen UID:
351273
Concept ID:
C1864997
Disease or Syndrome
Synonyms: CDA and CRMO; Chronic recurrent multifocal osteomyelitis, congenital; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; Dyserythropoietic anemia, and neutrophilic dermatosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Majeed syndrome (703540008); Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (703540008)
 
Gene: LPIN2
Cytogenetic location: 18p11.31
OMIM®: 609628
Orphanet: ORPHA77297

Disease characteristics

Excerpted from the GeneReview: Majeed Syndrome
Majeed syndrome is characterized by: Chronic recurrent multifocal osteomyelitis (CRMO) that is of early onset with a lifelong course; and Congenital dyserythropoietic anemia (CDA) that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion dependent. Some individuals also develop a transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Hatem El-Shanti  |  Polly Ferguson   view full author information

Additional description

From GHR
Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. 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 pain and joint swelling beginning in infancy or early childhood. These symptoms persist 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. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition 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.  http://ghr.nlm.nih.gov/condition/majeed-syndrome

Clinical features

Weight loss
MedGen UID:
504965
Concept ID:
CN001653
Finding
Reduction inexisting body weight.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Glomerulopathy
MedGen UID:
506545
Concept ID:
CN117710
Finding
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Inflammatory abnormality of the eye
MedGen UID:
451869
Concept ID:
CN117426
Finding
Inflammation of the eye, parts of the eye or the periorbital region.
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Arthralgia
MedGen UID:
409545
Concept ID:
C1963066
Finding
Bone pain
MedGen UID:
368783
Concept ID:
C1963077
Finding
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.
Osteomyelitis
MedGen UID:
505345
Concept ID:
CN002499
Finding
An infection of bone.
Recurrent fractures
MedGen UID:
500939
Concept ID:
CN002502
Finding
The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Abnormality of bone mineral density
MedGen UID:
428073
Concept ID:
CN003849
Finding
This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Hyperostosis
MedGen UID:
506537
Concept ID:
CN117664
Finding
Excessive growth or abnormal thickening of bone tissue.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Pustule
MedGen UID:
488804
Concept ID:
C0241157
Finding
A vesicle filled with leukocytes
Skin rash
MedGen UID:
504676
Concept ID:
CN000925
Finding
A red eruption of the skin.
Acne
MedGen UID:
504704
Concept ID:
CN000996
Finding
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Vasculitis
MedGen UID:
369784
Concept ID:
C1963274
Finding
Leukocytosis
MedGen UID:
155453
Concept ID:
C0750426
Finding
A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.
Microcytic anemia
MedGen UID:
505012
Concept ID:
CN001751
Finding
A kind of anemia in which the volume of the red blood cells is reduced.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Edema
MedGen UID:
504667
Concept ID:
CN000907
Finding
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Abnormality of temperature regulation
MedGen UID:
425258
Concept ID:
CN003869
Finding
An abnormality of temperature homeostasis.
Pulmonary infiltrates
MedGen UID:
505111
Concept ID:
CN001913
Finding
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Leukocytosis
MedGen UID:
155453
Concept ID:
C0750426
Finding
A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.
Myalgia
MedGen UID:
368426
Concept ID:
C1963177
Finding
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.
Abnormality of the metaphyses
MedGen UID:
428237
Concept ID:
CN000883
Finding
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.

Recent clinical studies

Etiology

Posso-De Los Rios CJ, Pope E
J Am Acad Dermatol 2014 Apr;70(4):767-73. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005. [Epub ahead of print] PMID: 24388422
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
Almeida de Jesus A, Goldbach-Mansky R
Clin Immunol 2013 Jun;147(3):155-74. Epub 2013 Apr 9 doi: 10.1016/j.clim.2013.03.016. [Epub ahead of print] PMID: 23711932Free PMC Article
Rigante D
Med Sci Monit 2009 Aug;15(8):RA179-87. PMID: 19644432
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. [Epub ahead of print] PMID: 18368292

Diagnosis

Eaton JM, Takkellapati S, Lawrence RT, McQueeney KE, Boroda S, Mullins GR, Sherwood SG, Finck BN, Villén J, Harris TE
J Biol Chem 2014 Jun 27;289(26):18055-66. Epub 2014 May 8 doi: 10.1074/jbc.M114.547604. [Epub ahead of print] PMID: 24811178Free PMC Article
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. [Epub ahead of print] PMID: 24182852Free 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. [Epub ahead of print] PMID: 23827250
Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ
Ann Rheum Dis 2013 Mar;72(3):410-3. Epub 2012 Oct 20 doi: 10.1136/annrheumdis-2012-201818. [Epub ahead of print] PMID: 23087183Free PMC Article
Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ
Arthritis Rheum 2007 Mar;56(3):960-4. doi: 10.1002/art.22431. PMID: 17330256

Therapy

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
Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. [Epub ahead of print] PMID: 23827250
Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ
Ann Rheum Dis 2013 Mar;72(3):410-3. Epub 2012 Oct 20 doi: 10.1136/annrheumdis-2012-201818. [Epub ahead of print] PMID: 23087183Free 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
Twilt M, Laxer RM
Curr Opin Rheumatol 2011 Sep;23(5):424-31. doi: 10.1097/BOR.0b013e328349c363. PMID: 21788901

Prognosis

Posso-De Los Rios CJ, Pope E
J Am Acad Dermatol 2014 Apr;70(4):767-73. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005. [Epub ahead of print] 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: doi:10.2223/JPED.2015. PMID: 20938587
El-Shanti HI, Ferguson PJ
Clin Orthop Relat Res 2007 Sep;462:11-9. doi: 10.1097/BLO.0b013e3180986d73. PMID: 17496555

Clinical prediction guides

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. [Epub ahead of print] PMID: 20032092
Donkor J, Zhang P, Wong S, O'Loughlin L, Dewald J, Kok BP, Brindley DN, Reue K
J Biol Chem 2009 Oct 23;284(43):29968-78. Epub 2009 Aug 28 doi: 10.1074/jbc.M109.023663. [Epub ahead of print] PMID: 19717560Free PMC Article
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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