Background: Often quoted as "heaven on earth," Kashmir forms one of the two divisions of the Union territory of Jammu and Kashmir. A high-altitude region with abundant precipitation and snowfall, the ...people of Kashmir experience peculiar dermatoses not commonly seen in the majorly tropical subcontinent of India. In this study, we focussed on cold dermatoses as a comprehensive cluster and attempted to study them as a group. Aims: To determine the prevalence of cold dermatoses in Kashmir valley and study their epidemiological characteristics. Methods: This observational, cross-sectional community-based study was conducted on native Kashmiri population in three districts of the valley, exclusively during the winter season of the year 2016-17 and 2017-18. The data were tabulated and analyzed with Chi-square test for discrete variables and t-test for continuous variables, using OpenEpi. A P value of less than 0.05 was taken as significant. Results: The study included a total of 1200 cases with 602 males and 598 females. Perniosis was most commonly encountered dermatoses in our study with a prevalence of 12.2%. Frostbite had a prevalence of 0.83%. Raynaud's phenomenon and asteatotic eczema were seen in 1.5% and 1.67% of the population, respectively. Cold panniculitis, cold urticaria, and livedo reticularis were each seen in 0.08% of the population. Conclusions: Cold dermatoses form an important source of morbidity among the native population of Kashmir. These can be easily prevented by ensuring adequate protection against cold. Creating awareness regarding these disorders and probable association with connective tissue disorders is also imperative.
Chronic urticaria (CU) is one of the most common skin disorders worldwide. Among the inducible subgroup of CU, cold urticaria (ColdU) can affect both children and adults and is the only type ...associated with the risk of anaphylaxis without cofactors. In the scientific literature, data about cold anaphylaxis (ColdA) are poor, especially at pediatric age, and little is known about risk factors associated with the onset of systemic reactions and about the criteria for prescribing adrenaline auto-injectors (AAIs) in these patients. We describe the clinical characteristics and management of a case series of 21 patients with a history of ColdA, and we compare them with the pediatric case reports and case series published so far. On the basis of the scientific literature and of our case series of patients, we suggest that AAI should be prescribed to all high-risk patients: those with urticaria caused by cold-water immersion, oropharyngeal reactions, and with a previous history of systemic symptoms or anaphylaxis.
La doxiciclina es una tetraciclina sintética aprobada por primera vez en 1967. Además de las propiedades antibacterianas de amplio espectro que posee esta molécula, se han ido descubriendo ...propiedades antiinflamatorias interesantes que la han convertido en una posible opción terapéutica en múltiples enfermedades no infecciosas. En el campo de la dermatología, las tetraciclinas son probablemente el antibiótico oral más prescrito, con dosis, en general, inferiores a las indicadas para procesos infecciosos, con un perfil de eficacia y seguridad óptimo. Enfermedades relacionadas con la unidad foliculosebácea, procesos granulomatosos y proliferaciones vasculares, entre otros, pueden ser tratados con doxiciclina gracias a la inhibición de las vías moleculares relacionadas con estos procesos. Las principales características de la doxiciclina, y su amplio uso en dermatología, obligan al dermatólogo a estar familiarizado con este fármaco.
Doxycycline is a synthetic tetracycline that was approved in 1967. This wide-spectrum antibiotic has been shown to also have useful anti-inflammatory properties that make it suitable for the treatment of a number of noninfectious conditions. Tetracyclines are probably the most commonly prescribed antibiotics in dermatology, where they are usually used at doses lower than those effective against infections. They also have an excellent efficacy and safety profile. Because of doxycycline's ability to inhibit the molecular pathways associated with certain processes, this antibiotic can be used to treat hair follicle diseases, granulomatous diseases, and vascular proliferation, among other conditions. The main properties of doxycycline and its many applications in dermatology make this drug one that specialists should become familiar with.
Cryopyrinopathies Quartier, P.; Rodrigues, F.; Georgin-Lavialle, S.
La revue de medecine interne,
April 2018, 2018-04-00, Letnik:
39, Številka:
4
Journal Article
Recenzirano
Les cryopyrinopathies sont associées à des mutations d’un même gène mais regroupent 3 syndromes, par gravité croissante l’urticaire familial au froid, le syndrome de Muckle-Wells et le syndrome ...chronique, infantile, neurologique, cutané, articulaire (CINCA) également appelé neonatal-onset multisystem inflammatory disease (NOMID). La transmission est le plus souvent autosomique dominante sauf dans le syndrome CINCA/NOMID où prédominent les néomutations. Les mutations du gène codant la cryopyrine, NLRP3, sont à l’origine d’une activité dérégulée de la caspase 1 avec production excessive d’interleukine-1 et un syndrome auto-inflammatoire qui dans l’urticaire familial au froid et le syndrome de Muckle-Wells peut être déclenché ou aggravé par le froid. De plus en plus de mutations sont décrites y compris des mutations somatiques pouvant expliquer des signes survenant à l’âge adulte. Les patients présentent une éruption cutanée pseudo-urticarienne, des arthralgies, des céphalées, parfois de la fièvre, une inflammation biologique mais également dans les formes sévères une atteinte neuro-sensorielle avec surdité de perception, atteinte ophtalmologique et méningite chronique. Certains patients CINCA/NOMID développent de plus une hypertrophie pseudo-tumorale des cartilages de croissance articulaire. L’histoire naturelle de la maladie est en général bénigne dans l’urticaire familial au froid mais sévère dans les autres formes, notamment du fait de l’atteinte neuro-sensorielle. Par ailleurs, un risque d’amylose AA secondaire existe dans toutes les formes en l’absence de contrôle de l’inflammation chronique. Le traitement anti-interleukine-1 par anakinra, rilonacept ou canakinumab permet généralement une rémission complète des symptômes mais des séquelles sont possibles en particulier si se sont déjà développées surdité ou hypertrophie cartilagineuse. Ce traitement est également important pour prévenir l’amylose, à défaut stabiliser ou parfois permettre la régression de lésions constituées.
Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness. More and more mutations are described and even somatic mutations that can explain some clinical signs beginning in adulthood. Patients disclose a pseudo-urticarial rash, arthralgia, headaches, sometimes fever, biological inflammation but also, in severe forms of the disease, neurologic inflammation with central deafness, ophthalmologic inflammation, chronic meningitis. Some CINCA/NOMID patients also develop growth cartilage pseudo-tumoral hypertrophy. Natural disease history is usually benign in familial cold urticarial but severe in the other forms, particularly regarding neuro-sensorial involvement. In addition, secondary AA amyloidosis may develop in all forms in the absence of control of chronic inflammation. Anti-interleukin-1 treatment with anakinra, rilonacept or canakinumab induces in most cases complete remission, however sequelae may be present, particularly if central deafness or cartilage bone hypertrophy have already developed. This treatment is also important to prevent secondary amyloidosis or stabilize and even sometimes allow improvement of amyloidosis lesions.
The auto-inflammatory diseases linked to NLRC4 mutations are recently described entities. Transmission is autosomal dominant in 80 % of cases; cases of somatic mutation have already been reported. ...The disease may display two very different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation suggesting a cryopyrinopathy in its CINCA form; the mortality of this phenotype is high (25 %). The phenotype 2 (70 %), mild, usually starts after the age of 3 and is characterized by cold urticaria, arthralgia, ocular features and fever in 50 % of cases without visceral failure. Anti-interleukin-1 inhibitors are effective in most cases (83 %). Interleukin-18 (IL-18) levels are very high in both clinical forms. Interleukin-18 inhibitors and anti-interferon-gamma inhibitors were remarkably effective in two very severe phenotype 1 patients. Thus, NLRC4 mutations can induce various clinical manifestations with two distinct phenotypes. Although still rare, because very recently described, this group of diseases could be evoked by an internist in front of cold familial urticarial; probably more and more cases will be diagnosed thanks to the major progresses of genetic diagnostic tools such as next generation sequencing.
Chronic urticaria Greaves, Malcolm
Journal of allergy and clinical immunology,
04/2000, Letnik:
105, Številka:
4
Journal Article
Recenzirano
Odprti dostop
Chronic urticaria remains a major problem in terms of etiology, investigation, and management. It is important to identify patients in whom physical urticaria is the principal cause of disability. ...Once confirmed by appropriate challenge testing, no further investigation is required. Urticarial vasculitis (UV) is a major differential diagnosis of “idiopathic” urticaria (CIU). I perform biopsy of most patients in this category because UV cannot be considered confirmed in the absence of histologic evidence. Patients with confirmed UV need to be thoroughly investigated for paraproteins, lupus erythematosus hepatitis B and C, and inflammatory bowel disease. Of patients with CIU, a few (<5%) prove to have food additive reactivity confirmed by placebo-controlled challenge testing. There is no convincing evidence of the involvement of Helicobacter pylori or parasite infestation as a cause of chronic urticaria, although H pylori could have an indirect role. Recently it has become clear that 27% to 50% of patients with CIU have functional autoantibodies directed against the α-chain of the high-affinity IgE receptor or less commonly against IgG. These antibodies, whose involvement has now been independently confirmed in several centers, are identified by autologous serum skin testing and confirmed by histamine release studies or immunoblotting. Their removal (by intravenous Ig or plasmapheresis) or treatment by cyclosporine has proved highly beneficial in severely affected patients. However, the routine treatment of all CIU patients, irrespective of etiology, remains the judicious use of H1 antihistamines. (J Allergy Clin Immunol 2000;105:664-72.)
Les maladies auto-inflammatoires liées aux mutations du gène NLRC4 sont des entités de description récente. La transmission est autosomique dominante dans 80 % des cas. Elles comportent deux ...phénotypes cliniques très différents : le phénotype 1 (30 %), sévère, est dominé par une atteinte multisystémique qui débute chez le nouveau-né et le petit nourrisson par des symptômes de maladie inflammatoire chronique de l’intestin (MICI), avec syndrome d’activation macrophagique (SAM), voire une présentation évocatrice de cryopyrinopathie de forme CINCA-“like” (chronic infantile neurological cutaneous articular) ; il y a une mortalité chez un quart des patients décrits. Le phénotype 2 (60 %), modéré, débute après l’âge de 3 ans et est caractérisé par une urticaire au froid, des arthralgies, des signes oculaires et de la fièvre dans la moitié des cas, sans défaillance viscérale. Les anti-interleukine (IL)-1 sont efficaces dans la majeure partie des cas. Les concentrations sériques d’IL-18 sont très élevées dans les deux formes cliniques. Les anti-IL-18 et anti-interféron-gamma ont eu une efficacité remarquable chez deux patients de phénotype 1. Ainsi, les mutations de NLRC4 peuvent induire des manifestations cliniques variées avec deux phénotypes distincts. Bien qu’encore rares, car de description récente, ces maladies peuvent évoquées par un interniste devant notamment une urticaire familiale au froid et sera ont probablement de plus en plus diagnostiquée grâce à l’utilisation des techniques de séquençage de nouvelle génération (NGS).
The auto-inflammatory diseases linked to NLRC4 mutations are recently described entities. Transmission is autosomal dominant in 80 % of cases; cases of somatic mutation have already been reported. The disease may display two very different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation suggesting a cryopyrinopathy in its CINCA form; the mortality of this phenotype is high (25 %). The phenotype 2 (70 %), mild, usually starts after the age of 3 and is characterized by cold urticaria, arthralgia, ocular features and fever in 50 % of cases without visceral failure. Anti-interleukin-1 inhibitors are effective in most cases (83 %). Interleukin-18 (IL-18) levels are very high in both clinical forms. Interleukin-18 inhibitors and anti-interferon-gamma inhibitors were remarkably effective in two very severe phenotype 1 patients. Thus, NLRC4 mutations can induce various clinical manifestations with two distinct phenotypes. Although still rare, because very recently described, this group of diseases could be evoked by an internist in front of cold familial urticarial; probably more and more cases will be diagnosed thanks to the major progresses of genetic diagnostic tools such as next generation sequencing.
Cold contact urticaria is the second most common subtype of physical urticaria. Cold stimulation standardized tests are mandatory to confirm the diagnosis. The aim of this study is to define the ...utility of determining thresholds (critical time and temperature) in assessment of the clinical course of typical acquired cold contact urticaria. Nineteen adult patients (10 women and 9 men; mean age 45 years) were included in the study and the diagnosis was confirmed with the ice-cube test and TempTest 3.0. Patients were treated continuously for 1 year with 20 mg/day rupatadine (anti-H1). Thresholds measurements were made before and after treatment. Improvements in temperature and critical time thresholds were found in the study sample, demonstrating the efficacy of continuous treatment with rupatadine. In most cases association with a clinical improvement was found. We propose an algorithm for the management of acquired cold contact urticaria based on these results.
•Cold-induced urticaria is a variety of urticaria induced by exposure to cold object.•We describe a patient who developed post-infectious sensory neuropathy and cold urticaria.•Anti-ganglioside ...antibodies search in serum was positive for anti-GQ1b and anti-GT1a IgG.•This is the first report of an association between a sensory neuropathy and cold urticaria.
A 64 years-old woman presented subacute onset distal paraesthesia concurrently with cold-induced urticaria, a rare form of physical urticaria. Both the disturbances developed a fortnight after an upper respiratory tract infection. EMG confirmed an exclusively sensory polyneuropathy, with prolongation of distal latencies and reduction of amplitudes. Anti-GQ1b and anti-GT1a antigangliosides antibodies were found in serum. The clinical workout included CSF analysis, cryoglobulin and paraprotein search, neurotropic infective agents, neoplastic markers and extensive autoimmune disease antibodies analysis, all of which resulted negative. Intravenous immunoglobulins were administered, leading to progressive resolution of the sensory disturbance, while a combination of steroid and anti-histaminics treatment was used for the urticaria. The positivity for anti-ganglioside search with an EMG pattern characterized by a mixture of demyelinating and axonal features may suggest a nodo-paranodopathy at early stages. This is the first case of an association between an acute sensory neuropathy and cold urticaria, two immune mediated conditions apparently due to very different hypersensitivity pathways. A proposed mechanism for the co-occurence of these two conditions is presented, whereas this case expands the clinical spectrum of autoimmune diseases associated with anti-GQ1b and anti-GT1a antibodies.
PDF
