1/10. A large kindred with familial cold autoinflammatory syndrome.BACKGROUND: Familial cold autoinflammatory syndrome (FCAS), formerly known as familial cold urticaria, is a rare condition characterized by fever, rash, and arthralgias elicited by exposure to cold. Recently, mutations responsible for FCAS were identified in a novel gene (CIAS1), making it possible to confirm the diagnosis in most patients. OBJECTIVE: We present a summary of clinical data from a large family with FCAS to further define the characteristics of the disorder and to validate previously proposed clinical criteria. methods: A total of 73 participants were evaluated by interview and questionnaire, including 36 affected individuals. Responses from the questionnaire were analyzed and comparisons of proportions were made using the Z test. dna was isolated and genotyping was performed on all subjects. Affected haplotypes (genotype patterns) were identified and used to confirm the diagnosis. Sequencing of the CIAS1 gene was performed in selected patients to confirm the mutation. RESULTS: The prevalence of rash, fever/chills, joint complaints, nausea, headache, and thirst were not significantly different from previously reported proportions. There was statistically significant differences in conjunctivitis, sweating, and drowsiness with alpha = 0.01. The mean temperature required to produce symptoms was 22 degrees C, and the average earliest onset of symptoms after exposure was 1.5 hours. CONCLUSIONS: Applying the proposed clinical criteria, 41% of affected subjects met all six criteria, 90% met five criteria, and 100% met four criteria for FCAS. None of the unaffected subjects met more than two criteria. Using a threshold of 4 of 6 clinical criteria, the data support the diagnostic validity of the proposed clinical criteria.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
2/10. impetigo herpetiformis in a primigravida: successful treatment with etretinate.impetigo herpetiformis (IH) is a rare dermatosis which usually occurs during the third trimester of pregnancy. It is characterized by acute erythematosquamous plaques covered with tiny superficial pustules in a herpetiform distribution with less likely mucus membranes involvement. It can be associated with constitutional symptom s such as fever, chills, nausea, vomiting and diarrhea. impetigo herpetiformis can cause serious complications to the mother and fetus which include: maternal hypocalcemia leading to delirium, convulsions, and tetany in the mother, and placental insufficiency leading to still birth, neonatal death or fetal abnormalities. Lesions are expected to disappear after birth but may recur during subsequent pregnancies at an earlier gestational age. Presented here is a case of IH occurring during the 37th week of gestation in a primigravida who failed to respond to oral steroid but successfully cleared with oral etretinate.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
3/10. Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions.Muckle-Wells syndrome (MWS) is a rare syndrome, characterized by chronic recurrent urticaria, often combined with fever, chills, rigors, malaise, and arthralgia. Progressive sensorineural deafness, and, in approximately one third of the patients, amyloidosis of the kidneys as well as of other organs may occur. It was first described in 1962 by Muckle and Wells. Herein we describe six cases of MWS showing, in addition to the classic features of MWS, unique skin lesions that to the best of our knowledge have not been described before in association with MWS.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
4/10. A probable case of Muckle-Wells syndrome.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.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
5/10. Snake venom or antivenom induced urticaria.An amateur herpetologist developed chills, diaphoresis and generalized urticaria 5 h after receiving Antivenin (Crotalidae) Polyvalent (Wyeth) for treatment of rattlesnake (crotalus atrox) envenomation. The patient had been bitten 8 mo earlier by a copperhead (agkistrodon contortrix mokeson) resulting in minimal envenomation. He also had been skin testing himself for 6 mo with both diluted crotalus atrox venom and Antivenin (Crotalidae) Polyvalent (Wyeth) to determine how sensitive he was to antivenom and how resistant he was to the effects of venom. Unusual reactions to antivenom during the treatment of snake-bite victims, such as amateur herpetologists or snake fanciers, with access to both venom and antivenom should raise questions about unusual means of sensitization.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
6/10. Atypical measles: a diagnostic conundrum.Atypical measles syndrome has been reported extensively in the pediatric medical literature. However, the clinical picture in the adult is similar to that of many other diseases, making the diagnosis elusive. The case reported here was unusually morbid. The patient, a young man, had been in excellent health until the onset of a perplexing syndrome. When seen by the author, he had been ill for 1 week with chills, pharyngitis, and vomiting; later, a nonpruritic, maculopapular rash developed. Symptoms progressed to pneumonitis and hepatitis. A rubeola titer was obtained and was found to be considerably elevated. Because of the high titer and the fact that the patient had been immunized against measles in early childhood, the diagnosis was atypical measles syndrome. Two theories are offered to explain the pathogenesis of this disease.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
7/10. Generalized hypersensitivity reaction to intravesical thiotepa and doxorubicin.We describe an unusual case of pruritus after intravesical thiotepa, and diaphoresis, shortness of breath, chills and pruritus following intravesical doxorubicin therapy. Such generalized allergic reactions occur uncommonly after bladder instillation of thiotepa or doxorubicin.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
8/10. Unusual cold-induced disorders: cold-dependent dermatographism and systemic cold urticaria.Two patients are described in whom new cold-induced disorders were defined. The patients presented with histories suggesting either dermatographism or typical cold urticaria; however, standard tests for each disorder failed to reproduce the patients' symptoms. One patient had dermatographism that was observable only upon chilling the skin subsequent to scratching it. The reaction was associated with detectable elevation of venous histamine levels coincident with the development of urticaria. The second patient had generalized urticaria that was induced by systemic rather than local cold challenge. The reaction was anaphylactoid in nature and was associated with systemic elevation of histamine levels. This patient was also mildly dermatographic, and skin reactivity was markedly augmented during an episode of generalized hives. These cold-dependent disorders should be included in the differential diagnosis of patients with histories suggestive of cold urticaria with or without a dermatographic component. Further evaluation is indicated when the standard tests for either of these disorders are negative.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
9/10. Familial cold urticaria: a father and daughter with typical clinical and laboratory features.BACKGROUND: Familial cold urticaria is a rare, autosomally dominant disease of interest to physicians treating urticarial-type diseases. OBJECTIVE: To describe two patients, a father and daughter with the characteristics of this disease and review the features that differentiate it from other cold-induced syndromes. methods: Both patients underwent a cold room challenge, a lesional skin biopsy, and an ice-cube test, P-K test and extensive laboratory studies pre- and post-cold-room challenge. RESULTS: A careful history revealed winter outbreaks of erythematous, nonpruritic lesions occurring hours after cold air exposure since early childhood. Systemic symptoms included burning, chills, and arthralgias rather than the anaphylactic symptoms associated with acquired urticarias. Cold room challenge induced "non-urticarial" lesions after a delay of one-half to two hours. Lesional biopsy demonstrated polymorphonuclear infiltration with increased eosinophils. ice-cube tests and P-K tests were negative, and laboratory studies were remarkable only for a rise in leukocytes and erythrocytic sedimentation rate after positive challenge. Abnormal serum proteins were not found. CONCLUSION: Familial cold urticaria is an inherited disease with distinct characteristics that distinguish it from acquired cold urticarias and other cold-induced syndromes. Most importantly, lesions occur with a delay after exposure to cold air and are not urticarial. Anaphylactic symptoms do not occur and abnormal serum proteins are not found.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
10/10. Familial cold urticaria.Familial cold urticaria (FCU) is a rare autosomal dominant condition, first described in 1940. The onset is in early life in all reported cases. Symptoms are triggered by generalized exposure to cold air, particularly in damp and windy weather. The cutaneous lesions consist of erythematous macules or plaques, urticarial lesions and sometimes petechiae. Associated fever, chills, joint pains, nausea, stiffness and swelling of the hands and feet frequently occur. The symptoms are variable, ranging from mild to incapacitating. The pathogenesis of FCU remains unknown. To our knowledge only 10 pedigrees have been published, seven from the USA and one each from Holland, france and south africa. We wish to report another extensive pedigree after having had the opportunity to investigate one member of the family in detail. A short form of this pedigree has been published elsewhere.- - - - - - - - - - ranking = 1keywords = chill (Clic here for more details about this article) |
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