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1.
Ital J Pediatr ; 44(1): 26, 2018 Feb 17.
Article in English | MEDLINE | ID: mdl-29454377

ABSTRACT

BACKGROUND: Chronic recurrent multifocal osteomyelitis (CRMO), also known as chronic nonbacterial osteomyelitis, is a rare, noninfectious inflammatory disorder that causes multifocal bone lesions with swelling and pain. Lytic and sclerotic bone lesions could be found on X-ray. Short tau inversion recovery magnetic resonance imaging (STIR MRI) shows bone marrow oedema, bone expansion, lytic areas and periosteal reaction. CRMO is characterized by periodic exacerbations and remissions of unclear/unknown pathogenesis. CASE PRESENTATION: A 10 years old girl, suffering from pain in her right shoulder since the age of 9 years presented to our Department. Thanks to clinical data, laboratoristic and radiological findings and bone biopsy CRMO was diagnosed. So patient started anti-inflammatory treatment and her conditions improved. CONCLUSIONS: In a child with bone pain should be considered also rare condition as CRMO to perform a correct diagnosis and start an adequate treatment avoiding complications such as bone damage. This condition should be suspected in a child with recurrent bone pain, modest increase of inflammatory indices, lytic or sclerotic bone lesion on X Ray. Typical CRMO localizations are metaphyses of long bones, pelvis, clavicle, vertebral column, sternum, ribs, jaw, but any bone can be involved. The most common CRMO differential diagnosis is represented by infections, malignant bone tumors, Langerhans Cells Histiocytosis (LCH).


Subject(s)
Adrenal Cortex Hormones/administration & dosage , Osteomyelitis/diagnostic imaging , Osteomyelitis/drug therapy , Shoulder Pain/diagnosis , Blood Chemical Analysis , Child , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging/methods , Osteomyelitis/physiopathology , Pain Measurement , Radiography/methods , Severity of Illness Index , Shoulder Pain/etiology , Treatment Outcome
2.
Clin Rheumatol ; 34(7): 1171-80, 2015 Jul.
Article in English | MEDLINE | ID: mdl-25833143

ABSTRACT

Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1ß. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.


Subject(s)
Eye Diseases/immunology , Inflammation/immunology , Arthritis/genetics , Arthritis/immunology , Autoimmune Diseases/genetics , Autoimmune Diseases/immunology , Cryopyrin-Associated Periodic Syndromes/genetics , Cryopyrin-Associated Periodic Syndromes/immunology , Cytokines/metabolism , Familial Mediterranean Fever/genetics , Familial Mediterranean Fever/immunology , Female , Fever/genetics , Fever/immunology , Hereditary Autoinflammatory Diseases/genetics , Hereditary Autoinflammatory Diseases/immunology , Humans , Interleukin-1beta/metabolism , Male , Mevalonate Kinase Deficiency/genetics , Mevalonate Kinase Deficiency/immunology , Mutation , Phosphotransferases (Alcohol Group Acceptor)/deficiency , Sarcoidosis , Synovitis/genetics , Synovitis/immunology , Uveitis/genetics , Uveitis/immunology
3.
Ital J Pediatr ; 39: 64, 2013 Oct 14.
Article in English | MEDLINE | ID: mdl-24124913

ABSTRACT

Type 1 diabetes mellitus may be associated with many autoimmune diseases with the common autoimmune pathogenesis. We describe the case of a girl suffering from Type 1 diabetes mellitus and autoimmune Hashimoto's thyroiditis since the childhood and, due to the onset of Juvenile Idiopathic Arthritis during adolescence, for three years practiced therapy with an anti-TNF drug, etanercept . Currently her inflammatory markers are normal, arthritis is inactive and diabetes is well controlled. During the treatment with anti-TNF drug we observed a significative reduction of insulin dose, probably due to an increased tissue sensitivity secondary to the suppression of the activity of TNF-alpha. Several clinical trials that have evaluated the effect of immunomodulatory agents in diabetic patients, especially in those with recent onset of disease, were already performed but further studies of longer duration on a larger population are needed to assess the role of biologic drugs and immunotherapy in this group of patients.


Subject(s)
Arthritis, Juvenile/drug therapy , Arthritis, Juvenile/immunology , Diabetes Mellitus, Type 1/immunology , Hashimoto Disease/immunology , Immunoglobulin G/therapeutic use , Receptors, Tumor Necrosis Factor/therapeutic use , Rheumatoid Factor/blood , Adolescent , Arthritis, Juvenile/complications , Arthritis, Juvenile/diagnosis , Autoimmune Diseases/complications , Autoimmune Diseases/diagnosis , Autoimmune Diseases/drug therapy , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/diagnosis , Dose-Response Relationship, Drug , Drug Administration Schedule , Etanercept , Female , Follow-Up Studies , Hashimoto Disease/complications , Hashimoto Disease/diagnosis , Humans , Immunosuppressive Agents/therapeutic use , Injections, Subcutaneous , Risk Assessment , Treatment Outcome
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