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]

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