<\/span><\/h2>\nMajeed syndrome (MIM609628) is a very rare inheritance. autoinflammatory<\/span> condition that occurs in early childhood with chronic<\/span> recurrent<\/span> multifocal osteomyelitis<\/span> (CRMO or inflamed bones) and congenital<\/span> dyserythropoietic anemia<\/span> (CDA, or anemia due to improper manufacturing of red blood cells by the bone marrow). Transient neutrophilic<\/span> skin inflammation<\/span> can occur, often resembling Sweet's disease, in which biopsy<\/span> reveals many polymorphonuclear<\/span> neutrophils<\/span> white blood cells.<\/p>\n<\/span>What is the cause of Majeed syndrome and who gets it?<\/span><\/h2>\nMajeed syndrome is a autosomal<\/span> recessive genetic<\/span> condition, i.e. two copies of the mutation gene<\/span> are mandatory, one of each carrier<\/span> father.<\/p>\nThe altered gene in Majeed syndrome is called LPIN2, located in chromosome<\/span> 18p11.31, which encodes the Lipin 2 protein. Homozygous (two copies of it) mutation<\/span>) and compound heterozygotes (two different mutations<\/span> affecting the same gene) have been identified. Nonsense and nonsense mutations have been found. the incidence<\/span> One such gene mutation has been estimated to be 1 in 35,000 in an ethnically compatible population, but has not been detected in other populations. Other nonsense mutations in this gene have been reported in psoriasis. Lipin 2 is a enzyme<\/span> wrapped in lipid<\/span> (grease) metabolism<\/span>. The mechanism of the disease is so far unknown, but it probably involves the innate immune system.<\/p>\nSo far, only a small number of families have been identified with Majeed syndrome, and all are from the Middle East. The rate of transport of mutations in Arab populations would predict that this syndrome should be seen more frequently. Therefore, it has been postulated that it is not sufficiently diagnosed.<\/p>\n
Clinical features develop in early childhood, no later than 2 years of age. The youngest reported onset has been at 3 weeks of age.<\/p>\n
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<\/span>Clinical characteristics of Majeed syndrome.<\/span><\/h2>\nMajeed syndrome presents clinically as acute<\/span> episodes of fever<\/span>, joint pain and inflammation that last for several days, with 1-3 attacks per month.<\/p>\nThe cardinal features of Majeed syndrome are:<\/p>\n
\n- Recurrent chronic multifocal osteomyelitis<\/li>\n
- Congenital dyserythropoietic anemia<\/li>\n
- Inflammation of the skin<\/li>\n<\/ul>\n
<\/span>Recurrent chronic multifocal osteomyelitis (CRMO)<\/span><\/h3>\n\n- Early start<\/li>\n
- Severe pain<\/li>\n
- Mild swelling around the joints.<\/li>\n
- Generally affects large joints, but may involve small joints<\/li>\n
- Distinguished from sporadic CRMO:\n
\n- More frequent episodes (at least monthly)<\/li>\n
- Forever<\/li>\n
- \nRemission<\/span> it is rare and brief<\/li>\n
- Results in growth retardation<\/li>\n
- \nContractures<\/span> They are common<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n
<\/span>Congenital dyserythropoietic anemia<\/span><\/h3>\n\n- Microcytic hypochromic anemia (reduced blood count with small pale red blood cells)<\/li>\n
- Start in the first year of life<\/li>\n
- It varies from mild to transfusion.dependent<\/span>\n<\/li>\n<\/ul>\n
<\/span>Inflammation of the skin<\/span><\/h3>\n\n- Transient and not a consistent feature<\/li>\n
- Neutrophils skin disease<\/span> similar to Sweet's disease\n<\/li>\n
- \n
Psoriasis (may be the carriers<\/span>)<\/li>\n- Palmoplantar<\/span> pustulosis<\/span><\/li>\n
- \nCutaneous<\/span> pustulosis<\/li>\n
- Acne<\/li>\n<\/ul>\n
<\/span>Other features<\/span><\/h3>\nOther reported inconsistent features include:<\/p>\n
\n- Liver enlargement (hepatomegaly<\/span>)<\/li>\n
- \nNeonatal<\/span> cholestatic<\/span> jaundice<\/span> (yellow skin in the newborn baby due to blockage of the biliary tract)<\/li>\n<\/ul>\n
Bone involvement produces:<\/p>\n
\n- Delayed bone age<\/li>\n
- Short adult height<\/li>\n
- Permanent flexion<\/span> contractures<\/li>\n<\/ul>\n
Quality of life can be poor due to:<\/p>\n
\n- Recurring pain<\/li>\n
- Chronic anemia<\/li>\n
- Contractures<\/li>\n
- Muscle atrophy<\/span> (wear) due to insufficient use<\/li>\n<\/ul>\n
It is possible that wearers may develop only skin features, such as psoriasis and pustulosis, although the numbers are too small to be sure yet.<\/p>\n
<\/span>How is Majeed syndrome diagnosed?<\/span><\/h2>\nThe diagnosis of CRMO is based on:<\/p>\n
\n- at least 2 typical X-ray bone injuries<\/li>\n
- duration at least 6 months<\/li>\n
- typical histological features in bone biopsy<\/li>\n
- under 18 years of age at diagnosis<\/li>\n<\/ul>\n
LPIN2 gene mutations can be identified in molecular<\/span> Genetic testing. This is the only gene that has been affected so far in Majeed syndrome.<\/p>\nX-rays: Typical lesions are found in the metaphyses of the long bones as irregular radiolucent areas (osteolysis) surrounded by higher radiodensity (sclerosis<\/span>)<\/p>\nSkeletal examinations: increased absorption of Tc-99 or Ga-67 in inflammatory<\/span> injuries and can detect asymptomatic<\/span> Injuries<\/p>\nMagnetic resonance<\/span>: It is the most sensitive investigation for active bone lesions, especially in the vertebrae.<\/p>\nBone biopsy: histology<\/span> shows nonspecific inflammation with granulocytes<\/span>.<\/p>\nBone marrow biopsy: increased erythropoiesis, including dyserythropoiesis with binucleated and trinucleated normoblasts.<\/p>\n
Skin biopsy: intraepidermal<\/span> neutrophil abscesses<\/p>\nCultures: bone, bone marrow, blood and skin are always negative.<\/p>\n
Blood test:<\/p>\n
\n- Microcytic hypochromic anemia<\/li>\n
- High erythrocytes<\/span> sedimentation rate (ESR<\/span>) - consistent<\/li>\n
- White blood cell count may be normal or increased<\/li>\n<\/ul>\n
Majeed syndrome should be distinguished from the distinct clinical entity Recurrent chronic multifocal osteomyelitis (CRMO, MIM 259680), which is generally a sporadic condition but has also been reported in families. It usually begins later in childhood (4-14 years onset) and usually resolves. Episodes generally occur less frequently with longer periods of remission between attacks than those reported in Majeed syndrome. It is not associated with anemia, although the skin may be affected (psoriasis, palmoplantar pustulosis, Sweet syndrome), as can the joints and intestines.<\/p>\n
<\/span>Majeed syndrome treatment<\/span><\/h2>\nFor osteomyelitis:<\/p>\n
\n- Nonsteroidal anti-inflammatory<\/span> drugs (NSAID<\/span>)<\/li>\n
- Short course systemic<\/span> corticosteroids\n<\/li>\n
- Physiotherapy to maintain muscles and joints.<\/li>\n
- Avoid prolonged bed rest<\/li>\n
- \n
Colchicine has been reported to be of no use in 3 patients.<\/li>\n<\/ul>\n
For anemia:<\/p>\n
\n- Regular blood counts<\/li>\n
- Blood transfusions<\/li>\n
- Splenectomy<\/li>\n<\/ul>\n
For the skin:<\/p>\n
\n- Short course of oral corticosteroids<\/li>\n<\/ul>\n
Prenatal<\/span> Testing may be considered in subsequent pregnancies, since siblings of an affected child have a 25% chance of also developing the syndrome and a 50% chance of carrying the mutated gene. Tests can only be done if the actual mutation has been identified in the affected child. All children of an affected person must be carriers of the syndrome.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"\u00bfQu\u00e9 es majeed? s\u00edndrome? El s\u00edndrome de Majeed (MIM609628) es un hereditario muy raro. autoinflamatorio condici\u00f3n que se presenta en la primera infancia con cr\u00f3nico recurrente multifocal osteomielitis (CRMO o…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-16703","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/16703","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=16703"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/16703\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=16703"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=16703"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=16703"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}