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Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. 2013

Mikhail M Kostik, and Irina A Chikova, and Vladislav V Avramenko, and Laly I Vasyakina, and Emmanuelle Le Trionnaire, and Vyacheslav G Chasnyk, and Thierry Levade
Hospital Pediatric Department, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint-Petersburg, Russia, 194100, kost-mikhail@yandex.ru.

The case of a 10-year-old boy with Farber lipogranulomatosis with predominant joint involvement, subacute, laryngeal and tongue granulomas, microcytic anemia, elevated ESR and CRP, is presented. The boy had no signs of CNS and internal organ involvement. The disease manifested at 6 months; at 11 months the boy had widespread granulomatous polyarthritis with contractures, and juvenile idiopathic arthritis (JIA) was suggested. All antirheumatic therapies failed. Immunologic assessment revealed elevated serum interleukin-1β, increased T-helper, NK and CD25-positive cells, and circulating immune complexes. Our case with predominant rheumatologic manifestations illustrates a differential diagnosis of JIA.

UI MeSH Term Description Entries
D008297 Male Males
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001168 Arthritis Acute or chronic inflammation of JOINTS. Oligoarthritis,Polyarthritis,Arthritides,Oligoarthritides,Polyarthritides
D001171 Arthritis, Juvenile Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent. Arthritis, Juvenile Chronic,Arthritis, Juvenile Idiopathic,Arthritis, Juvenile Rheumatoid,Childhood Arthritis,PCJIA,PJIA Polyarticular Juvenile Idiopathic Arthritis,Polyarticular Juvenile Idiopathic Arthritis,Polyarticular-Course Juvenile Idiopathic Arthritis,Still's Disease, Juvenile-Onset,Enthesitis-Related Arthritis, Juvenile,Juvenile Chronic Arthritis,Juvenile Idiopathic Arthritis,Juvenile Rheumatoid Arthritis,Juvenile-Onset Still Disease,Juvenile-Onset Stills Disease,Oligoarthritis, Juvenile,Polyarthritis, Juvenile, Rheumatoid Factor Negative,Polyarthritis, Juvenile, Rheumatoid Factor Positive,Psoriatic Arthritis, Juvenile,Still Disease, Juvenile-Onset,Systemic Arthritis, Juvenile,Arthritides, Childhood,Arthritis, Childhood,Arthritis, Juvenile Enthesitis-Related,Arthritis, Juvenile Psoriatic,Arthritis, Juvenile Systemic,Childhood Arthritides,Chronic Arthritis, Juvenile,Enthesitis Related Arthritis, Juvenile,Idiopathic Arthritis, Juvenile,Juvenile Arthritis,Juvenile Enthesitis-Related Arthritis,Juvenile Oligoarthritis,Juvenile Onset Still Disease,Juvenile Onset Stills Disease,Juvenile Psoriatic Arthritis,Juvenile Systemic Arthritis,Juvenile-Onset Still's Disease,Rheumatoid Arthritis, Juvenile,Still Disease, Juvenile Onset,Still's Disease, Juvenile Onset,Stills Disease, Juvenile-Onset
D055577 Farber Lipogranulomatosis A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE. Acid Ceramidase Deficiency,Ceramidase Deficiency,Farber Disease,Farber's Disease,N-Laurylsphingosine Deacylase Deficiency,Acid Ceramidase Deficiencies,Ceramidase Deficiencies,Ceramidase Deficiency, Acid,Deficiencies, Ceramidase,Deficiencies, N-Laurylsphingosine Deacylase,Deficiency, Acid Ceramidase,Deficiency, Ceramidase,Deficiency, N-Laurylsphingosine Deacylase,Disease, Farber's,Diseases, Farber's,Farber's Diseases,Farbers Disease,Lipogranulomatosis, Farber,N Laurylsphingosine Deacylase Deficiency,N-Laurylsphingosine Deacylase Deficiencies

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