Affected individuals present with the triad of microcytic chronic dyserythropoietic anemia (CDA), chronic recurrent multifocal osteomyelitis (CRMO), and an inflammatory dermatosis.
CDA presents in the first year of life and ranges in severity from mild to transfusion dependent.
Initial presentation of CRMO is usually between 3 weeks to 2 years of age but onset up to 8 years of age has been reported. Its course is characterized by 1-3 exacerbations a month, lasting a few days each, and likely affecting the patient for life. Exacerbations comprise fever, severe joint pain, and soft tissue swelling, predominantly around large joints. Prolonged disease often leads to delayed bone age, growth retardation, and permanent flexion contractures.
The inflammatory dermatosis is not a consistent feature. The most common skin manifestation is Sweet syndrome, which presents before 3 years of age. One patient with Majeed syndrome developed cutaneous pustulosis.
M04.8 – Other autoinflammatory syndromes
703540008 – Majeed syndrome
Differential Diagnosis & Pitfalls
- Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome – Onset in adulthood.
- Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome – Distinct skin lesions, autosomal dominant inheritance.
- Sporadic CRMO – Later onset (7-15 years old), only 2-4 exacerbations per year, and spontaneously remits. Not associated with anemia.