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Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
Insights
This study describes a rare genetic syndrome in three children featuring persistent skin rash, joint issues, and neurological problems. Polymorphonuclear cell infiltration was observed in multiple tissues, despite normal immunologic tests.
Area of Science:
- Pediatric Rheumatology
- Dermatology
- Neurology
Background:
- Describes a rare congenital syndrome affecting three unrelated children.
- Characterized by persistent skin rash, fever, lymphadenopathy, splenomegaly, and symmetric arthritis of large joints.
Observation:
- One child developed psoriasis at age 3.
- Joint X-rays revealed early patellar ossification and abnormal epiphyseal appearance.
- Neurologic involvement included mental retardation, enlarged head circumference, eye lesions, delayed fontanel closure, and chronic meningitis.
Findings:
- Polymorphonuclear cell infiltration was present in skin, lymph nodes, synovial fluid, and cerebrospinal fluid (CSF).
- No specific immunologic abnormalities were detected.
- The syndrome presents with multisystemic inflammatory manifestations.
Implications:
- Highlights a distinct syndrome with overlapping features of autoinflammatory and autoimmune conditions.
- Suggests a potential role for polymorphonuclear cells in the pathogenesis of this syndrome.
- Emphasizes the need for comprehensive evaluation in children with unexplained chronic inflammatory symptoms.
Abstract:
Three unrelated children (one girl and two boys) have had since birth a syndrome characterized by a permanent skin rash which becomes more intense during flare-ups associated with fever, lymphadenopathy, splenomegaly, and arthritis symmetrically involving the large joints. In one boy, typical psoriasis was observed at age 3 years. In two patients, roentgenograms of the joints showed early patellar ossification and an abnormal epiphyseal appearance. The three children also had neurologic involvement, with mental retardation, enlarged head circumference, eye lesions, late closure of the anterior fontanel, and a chronic meningitis with infiltration by polymorphonuclear cells. No immunologic abnormalities were found, but polymorphonuclear cells infiltrated the skin, lymph nodes, synovial fluid, and CSF.