Majeed Syndrome – aka Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia and Neutrophilic Dermatosis Syndrome

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Acronym:
MAJEED

SAID group:
Inflammatory Bone Diseases

Gene:
LPIN2

Inheritance:
Autosomal recessive. Two LPIN2 mutations are required to cause symptoms of Majeed.

Ethnicity:
Currently, the only documented cases of Majeed are of Middle Eastern ancestry. [18]

Frequency:
Unknown, but very rare. 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, starting between 3 weeks to 2 years of age. [18]

Skin cutaneous:
Most patients have inflammatory dermatosis, Sweet’s syndrome, pustular skin lesions, psoriasis. Intra-epidermal neutrophils. [18] [53]

Neurologic:
High fevers last for a few days with flares and severe pain. Other neurological symptoms are not noted. Growth delays in height, and chronic pain are common. [18] [53]

Auditory:
Not noted. [18] [53]

Ophthalamic:
Not noted. [18] [53]

Cardiopulmonary:
Not noted. [18] [53]

Abdominal:
Hepatomegaly and cholestatic jaundice in the neonatal period, but it is transient. [18] [53]

Lymphatic:
Neonates: hepatomegaly and neutropenia; anemia is common and can be severe. [18]

Joints bones muscles cartilage:
Periarticular tender soft tissue swelling. Bone pain. Bone biopsy shows no infection. Early-onset Chronic Recurrent Multifocal Osteomyelitis (CRMO). Periarticular tender soft tissue swelling, short stature, delayed bone age, contractures are often noted. [18]

Vasculitis:
Not noted. [18] [53]

Amyloidosis:
Not noted. [18] [53]

Abnormal labs:
Congenital dyserythropoietic anemia (CDA). High ESR. WBC can be normal, or elevated, with neutropenia in infancy. Cultures are negative. [18]

Search Keywords:
Majeed Syndrome, Chronic Recurrent Multifocal Osteomyelitis Congenital Dyserythropoietic Anemia and Neutrophilic Dermatosis Syndrome, Inflammatory Bone Diseases, LPIN2, inflammatory dermatosis, Sweet’s syndrome, sweets syndrome, pustular skin lesions, psoriasis, growth delay, hepatomegaly, cholestatic jaundice, bone pain, periarticular, short stature, delayed bone age, Contractures, Chronic Recurrent Multifocal Osteomyelitis, CRMO, Congenital dyserythropoietic anemia, CDA, neutropenia, sweets, sweets syndrome CRMO, sweets bone lesions, soft tissue swelling anemia, soft tissue swelling, anemia, leg pain, stunted growth, large liver, enlarged liver, muscle contractures, pain


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Photo credit:

Leobarco. Sweet’s syndrome 3 IBDERMA.com Derma Photo gallery by Leobarco, http://www.pbase.com/leobarco/image/69914524

Resources:

Find periodic fever syndrome panels, which test for Majeed and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).

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