Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Periodic fever can be defined as recurrent episodes of fever lasting from a few days to several weeks separated by symptom-free intervals of variable duration, recurring throughout several months. Although these clinical pictures are unusual in clinical practice, in some instances the differential diagnosis with recurrent infections, malignancies and connective tissue diseases is difficult. The aim of this review is to group together these different clinical pictures, which are dispersed in the literature, to obtain an overall and detailed perspective.We classified these processes in two categories: hereditary (familial Mediterranean fever, hyper-IgD syndrome, tumor necrosis factor-receptor-associated periodic syndrome, Muckle-Wells syndrome and familial cold urticaria) and non-hereditary (periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA syndrome], cyclic neutropenia, chronic infantile neurological cutaneous and articular syndrome [CINCA syndrome], Castleman's disease, early onset sarcoidosis and Blau syndrome). Although diagnosis is essentially clinical, in recent years many advances have been made in the knowledge of the molecular and genetic bases of hereditary diseases, which may be of considerable help in establishing the diagnosis and improving treatment.
 ...
PMID:[Periodic fever]. 1239 68

Muckle-Wells syndrome is a rare autosomally dominant disorder belonging to the group of periodic fever syndromes. Three main features of the disease are: (i) urticarial eruptions; (ii) progressive perceptive deafness; and (iii) amyloid nephropathy. A 26-year-old Japanese woman had suffered at birth from an urticarial rash and episodic fever. The fever was frequently associated with chills and ill-defined malaise. There was no familial history of urticarial rash or fever. Although she did not recognize hearing loss, audiometry revealed perceptive deafness. She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. Skin biopsy specimens from her buttock showed a sparse perivascular and interstitial infiltrate of neutrophils in the papillary dermis. Periodic fever syndrome was diagnosed. Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T, G907A, G1315A, G1075C) were detected. We treated her with prednisolone, which had a partial effect. Previous treatment with colchicines, antihistamines, dapsone, clarithromycin, minocycline hydrochloride and loxoprofen sodium had been unsuccessful. Muckle-Wells syndrome may go undiagnosed for many years or be misdiagnosed as refractory urticaria. Therefore, we should consider the possibility of periodic fever syndrome when we see patients with refractory urticaria and episodic fever.
 ...
PMID:A probable case of Muckle-Wells syndrome. 1655 80