Diagnostic Criteria

No consensus clinical diagnostic criteria for LPIN2-related Majeed syndrome have been published.

Suggestive Findings

LPIN2-related Majeed syndrome should be suspected in individuals with the following clinical, supportive laboratory, imaging, and family history findings.

Clinical findings

• Recurrent bone pain near the joints, often of the long bones of the lower extremities

• Joint swelling and subsequent joint contracture

• Chronic recurrent multifocal osteomyelitis that is sterile

• Neutrophilic dermatosis, which may present as painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates

Note: This finding can be transient.

• Failure to thrive

• Recurrent fever

• Hepatosplenomegaly

• Gastrointestinal issues, including recurrent abdominal pain and/or recurrent diarrhea

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

Differential Diagnosis

Table 3.

Genes of Interest in the Differential Diagnosis of LPIN2-Related Majeed Syndrome

Gene | Disorder | MOI | Features of This Disorder

Overlapping w/LPIN2-related Majeed syndrome | Distinguishing from LPIN2-related Majeed syndrome

IL1RN

| Interleukin-1 receptor antagonist deficiency (OMIM 612852) | AR | Multifocal sterile osteomyelitis, ESR, CRP | Predominant skin pustulosis from early infancy

NLRP3

| Chronic infantile neurologic cutaneous articular syndrome (OMIM 607115) | AD | Recurrent fever, bone pain, skin rash | CNS involvement, chronic meningitis

PSTPIP1

| Pyogenic sterile arthritis, pyoderma gangrenosum, acne (OMIM 604416) | AD | Sterile arthritis, ESR, CRP | Acne, pyoderma gangrenosum

TNFRSF1A

| TNF receptor-associated periodic fever syndrome | AD | Recurrent fever, ESR, CRP | Systemic ...

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

Management Guidelines

No clinical practice guidelines for LPIN2-related Majeed syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LPIN2-related Majeed syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with LPIN2-Related Majeed Syndrome

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended. Table 6. Recommended Surveillance for Individuals with LPIN2-Related Majeed Syndrome

Source: GeneReviews — "LPIN2-Related Majeed Syndrome"