Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Rash orticarioide alla nascita e malattia infiammatoria cronica

NEONATAL URTICARIA-LIKE RASH AND MULTISYSTEMIC INFLAMMATORY DISEASE

R. Meneghetti, A. Favia*, D. Giglia, L. Lepore

Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
*Divisione di Pediatria, Ospedale di Portogruaro, Venezia

Aprile 2006 - pagg. 257 -258

Abstract
We describe two unrelated children with neonatal onset of urticarial skin rash and subsequent development of a chronic multisystemic inflammatory syndrome, characterized by fever episodes, deforming arthropaty, central-nervous-system involvement, sensorineural hearing loss (chronic, infantile, neurologic, cutaneous and articular syndrome or CINCA syndrome). In both children typical facies with frontal bossing and saddle back nose was observed. We describe the molecular basis (CIAS1/cryopyrin mutations) and the pathogenetic hypothesis of CINCA. Therapy with IL-1ß-receptor blockade (anakinra) was successful in both cases.
Parole chiave
Arthropaty CINCA syndrome Fever Neurological involvement Urticarial rash
Suggerite dall'AI
malattia infiammatoria cronica
Classificazione MeSH
Musculoskeletal Diseases Joint Diseases Arthritis (21)
Skin and Connective Tissue Diseases Skin Diseases Skin Diseases, Vascular Urticaria Chronic Urticaria Chronic Inducible Urticaria
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Infant, Newborn, Diseases (41)
Amino Acids, Peptides, and Proteins Peptides Intercellular Signaling Peptides and Proteins Cytokines Interleukin 1 Receptor Antagonist Protein (9)
NLRP3 Protein
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Skin Diseases, Genetic (13)
Skin and Connective Tissue Diseases Skin Diseases Skin Diseases, Vascular Urticaria (57)
Leggi anche
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Le sindromi autoinfiammatorie: quando non è solo PFAPA
Tommasini A, Lepore L · 2021
Cryopyrin-Associated Periodic Syndromes, Interleukin 1 Receptor Antagonist Protein, Skin Diseases, Genetic/Hereditary Autoinflammatory Diseases, Urticaria/Cryopyrin-Associated Periodic Syndromes
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Una botta di orticaria…
Cappozzo F, Crocco M. · 2024
Cryopyrin-Associated Periodic Syndromes/Urticaria, Urticaria
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Arthritis
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Orticaria cronica spontanea
Colussi L, Malni I, Badina L, Berti I. · 2024
Cryopyrin-Associated Periodic Syndromes/Chronic Urticaria, Urticaria/Angioedema
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Corrispondenza: leporel@burlo.trieste.it