Majeed syndrome

Contents

What is majeed? syndrome?

Majeed syndrome (MIM609628) is a very rare inheritance. autoinflammatory condition that occurs in early childhood with chronic recurrent multifocal osteomyelitis (CRMO or inflamed bones) and congenital dyserythropoietic anemia (CDA, or anemia due to improper manufacturing of red blood cells by the bone marrow). Transient neutrophilic skin inflammation can occur, often resembling Sweet's disease, in which biopsy reveals many polymorphonuclear neutrophils white blood cells.

What is the cause of Majeed syndrome and who gets it?

Majeed syndrome is a autosomal recessive genetic condition, i.e. two copies of the mutation gene are mandatory, one of each carrier father.

The altered gene in Majeed syndrome is called LPIN2, located in chromosome 18p11.31, which encodes the Lipin 2 protein. Homozygous (two copies of it) mutation) and compound heterozygotes (two different mutations affecting the same gene) have been identified. Nonsense and nonsense mutations have been found. the incidence 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 wrapped in lipid (grease) metabolism. The mechanism of the disease is so far unknown, but it probably involves the innate immune system.

So 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.

Clinical features develop in early childhood, no later than 2 years of age. The youngest reported onset has been at 3 weeks of age.

Clinical characteristics of Majeed syndrome.

Majeed syndrome presents clinically as acute episodes of fever, joint pain and inflammation that last for several days, with 1-3 attacks per month.

The cardinal features of Majeed syndrome are:

Recurrent chronic multifocal osteomyelitis
Congenital dyserythropoietic anemia
Inflammation of the skin

Recurrent chronic multifocal osteomyelitis (CRMO)

Early start
Severe pain
Mild swelling around the joints.
Generally affects large joints, but may involve small joints
Distinguished from sporadic CRMO:
- More frequent episodes (at least monthly)
- Forever
- Remission it is rare and brief
- Results in growth retardation
- Contractures They are common

Congenital dyserythropoietic anemia

Microcytic hypochromic anemia (reduced blood count with small pale red blood cells)
Start in the first year of life
It varies from mild to transfusion.dependent

Inflammation of the skin

Transient and not a consistent feature
Neutrophils skin disease similar to Sweet's disease
Psoriasis (may be the carriers)
Palmoplantar pustulosis
Cutaneous pustulosis
Acne

Other features

Other reported inconsistent features include:

Liver enlargement (hepatomegaly)
Neonatal cholestatic jaundice (yellow skin in the newborn baby due to blockage of the biliary tract)

Bone involvement produces:

Delayed bone age
Short adult height
Permanent flexion contractures

Quality of life can be poor due to:

Recurring pain
Chronic anemia
Contractures
Muscle atrophy (wear) due to insufficient use

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.

How is Majeed syndrome diagnosed?

The diagnosis of CRMO is based on:

at least 2 typical X-ray bone injuries
duration at least 6 months
typical histological features in bone biopsy
under 18 years of age at diagnosis

LPIN2 gene mutations can be identified in molecular Genetic testing. This is the only gene that has been affected so far in Majeed syndrome.

X-rays: Typical lesions are found in the metaphyses of the long bones as irregular radiolucent areas (osteolysis) surrounded by higher radiodensity (sclerosis)

Skeletal examinations: increased absorption of Tc-99 or Ga-67 in inflammatory injuries and can detect asymptomatic Injuries

Magnetic resonance: It is the most sensitive investigation for active bone lesions, especially in the vertebrae.

Bone biopsy: histology shows nonspecific inflammation with granulocytes.

Bone marrow biopsy: increased erythropoiesis, including dyserythropoiesis with binucleated and trinucleated normoblasts.

Skin biopsy: intraepidermal neutrophil abscesses

Cultures: bone, bone marrow, blood and skin are always negative.

Blood test:

Microcytic hypochromic anemia
High erythrocytes sedimentation rate (ESR) - consistent
White blood cell count may be normal or increased

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.

Majeed syndrome treatment

For osteomyelitis:

Nonsteroidal anti-inflammatory drugs (NSAID)
Short course systemic corticosteroids
Physiotherapy to maintain muscles and joints.
Avoid prolonged bed rest
Colchicine has been reported to be of no use in 3 patients.

For anemia:

Regular blood counts
Blood transfusions
Splenectomy

For the skin:

Short course of oral corticosteroids

Prenatal 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.