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Rheumatology is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called rheumatologists.
Infliximab, a chimeric monoclonal antibody, sold under the brand name Remicade among others, is a medication used to treat a number of autoimmune diseases. This includes Crohn's disease, ulcerative colitis, rheumatoid arthritis, ankylosing spondylitis, psoriasis, psoriatic arthritis, and Behçet's disease. It is given by slow injection into a vein, typically at six- to eight-week intervals.
Uveitis is inflammation of the uvea, the pigmented layer of the eye between the inner retina and the outer fibrous layer composed of the sclera and cornea. The uvea consists of the middle layer of pigmented vascular structures of the eye and includes the iris, ciliary body, and choroid. Uveitis is described anatomically, by the part of the eye affected, as anterior, intermediate or posterior, or panuveitic if all parts are involved. Anterior uveitis (iridocyclitis) is the most common, with the incidence of uveitis overall affecting approximately 1:4500, most commonly those between the ages of 20-60. Symptoms include eye pain, eye redness, floaters and blurred vision, and ophthalmic examination may show dilated ciliary blood vessels and the presence of cells in the anterior chamber. Uveitis may arise spontaneously, have a genetic component, or be associated with an autoimmune disease or infection. While the eye is a relatively protected environment, its immune mechanisms may be overcome resulting in inflammation and tissue destruction associated with T-cell activation.
Gastrointestinal diseases refer to diseases involving the gastrointestinal tract, namely the esophagus, stomach, small intestine, large intestine and rectum, and the accessory organs of digestion, the liver, gallbladder, and pancreas.
Aphthous stomatitis, or recurrent aphthous stomatitis (RAS), is a common condition characterized by the repeated formation of benign and non-contagious mouth ulcers (aphthae) in otherwise healthy individuals. The informal term canker sore is also used, mainly in North America, although it may also refer to other types of mouth ulcers. The cause is not completely understood but involves a T cell-mediated immune response triggered by a variety of factors which may include nutritional deficiencies, local trauma, stress, hormonal influences, allergies, genetic predisposition, certain foods, dehydration, some food additives, or some hygienic chemical additives like SDS.
Relapsing polychondritis is a systemic disease characterized by repeated episodes of inflammation and in some cases deterioration of cartilage. The disease can be life-threatening if the respiratory tract, heart valves, or blood vessels are affected. The exact mechanism is poorly understood.
Reactive arthritis, also known as Reiter's syndrome, is a form of inflammatory arthritis that develops in response to an infection in another part of the body (cross-reactivity). Coming into contact with bacteria and developing an infection can trigger the disease. By the time the patient presents with symptoms, often the "trigger" infection has been cured or is in remission in chronic cases, thus making determination of the initial cause difficult.
A genital ulcer is an open sore located on the genital area, which includes the vulva, penis, perianal region, or anus. Genital ulcers are most commonly caused by infectious agents. However, this is not always the case, as a genital ulcer may have noninfectious causes as well.
Pathergy is a skin condition in which a minor trauma such as a bump or bruise leads to the development of skin lesions or ulcers that may be resistant to healing. Pathergy can also lead to ulcerations at the site of surgical incisions. Pathergy is seen with both Behçet's disease and pyoderma gangrenosum. A highly similar phenomenon known as the Koebner phenomenon occurs in autoimmune diseases such as psoriasis and systemic lupus erythematosus, among others.
Autoimmune inner ear disease (AIED) was first defined by Dr. Brian McCabe in a landmark paper describing an autoimmune loss of hearing. The disease results in progressive sensorineural hearing loss (SNHL) that acts bilaterally and asymmetrically, and sometimes affects an individual's vestibular system. AIED is used to describe any disorder in which the inner ear is damaged as a result of an autoimmune response. Some examples of autoimmune disorders that have presented with AIED are Cogan's syndrome, relapsing polychondritis, systemic lupus erythematosus, granulomatosis with polyangiitis, polyarteritis nodosa, Sjogren's syndrome, and Lyme disease.
HLA-B51 (B51) is an HLA-B serotype. The serotype identifies the more common HLA-B*51 gene products.
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes. PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease, type 1 diabetes, or both. It is heterogeneous and has not been linked to one gene. Rather, individuals are at a higher risk when they carry a particular human leukocyte antigen. APS-II affects women to a greater degree than men.
Behçet's disease is recognized as a disease that cause inflammatory perivasculitis, inflammation of the tissue around a blood or lymph vessel, in practically any tissue in the body. Usually, prevalent symptoms include canker sores or ulcers in the mouth and on the genitals, and inflammation in parts of the eye. In addition, patients experience severe headache and papulopustular skin lesions as well. The disease was first described in 1937 by a Turkish dermatologist, Dr. Hulusi Behçet. Behçet's disease is most prevalent in the Middle East and the Far East regions; however, it is rare in America regions.
Hughes–Stovin Syndrome (HSS) is a rare autoimmune disorder often described as inflammation in relation to blood vessels, a form of vasculitis. It is not associated with any known cause and is typically characterized by multiple aneurysms in pulmonary arteries and deep vein thromboses. It is named after the two British physicians, John Patterson Hughes and Peter George Ingle Stovin, who first described it in 1959. HSS is presumed to be a rare variant of Behçet's disease, which entails more general problems with the circulatory system. Due to its clinical similarity with Behçet's disease, it has also been referred to as 'Incomplete Behçet's disease.' Most patients are young adult males between the age of 20–40. Common clinical presentations include fever, cough, dyspnea and hemoptysis. Radiological features are similar to those of Behçet's disease.
Red ear syndrome (RES) is a rare disorder of unknown etiology which was originally described in 1994. The defining symptom of red ear syndrome is redness of one or both external ears, accompanied by a burning sensation. A variety of treatments have been tried with limited success.
Behçet's disease (BD) is a type of inflammatory disorder which affects multiple parts of the body. The most common symptoms include painful sores on the mucous membranes of the mouth and other parts of the body, inflammation of parts of the eye, and arthritis. The sores can last from a few days, up to a week or more. Less commonly there may be inflammation of the brain or spinal cord, blood clots, aneurysms, or blindness. Often, the symptoms come and go.
Tracheobronchomalacia (TBM) is a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse. This condition can also affect the bronchi. There are two forms of this condition: primary TBM and secondary TBM. Primary TBM is congenital and starts as early as birth. It is mainly linked to genetic causes. Secondary TBM is acquired and starts in adulthood. It is mainly developed after an accident or chronic inflammation.
VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The name VEXAS is an acronym deriving from the core features of disease:
Panuveitis also known as Diffuse uveitis or Total uveitis is an eye disease affecting the internal structures of the eye. In this inflammation occurs throughout the uveal tract, with no specific areas of predominant inflammation. In most cases, along with the uvea, the retina, vitreous humor, optic nerve or lens are also involved.
References
- ↑ Pak, Stella; Logemann, Shaina; Dee, Christine; Fershko, Adam (October 4, 2017). "Breaking the Magic: Mouth and Genital Ulcers with Inflamed Cartilage Syndrome". Cureus. Cureus, Inc. 9 (10): e1743. doi: 10.7759/cureus.1743 . ISSN 2168-8184. PMC 5714402 . PMID 29218258.
- ↑ Alpsoy, Erkan (April 14, 2016). "Behçet's disease: A comprehensive review with a focus on epidemiology, etiology and clinical features, and management of mucocutaneous lesions". The Journal of Dermatology. Wiley. 43 (6): 620–632. doi:10.1111/1346-8138.13381. ISSN 0385-2407. PMID 27075942.
- ↑ Cantarini, Luca; Vitale, Antonio; Brizi, Maria Giuseppina; Caso, Francesco; Frediani, Bruno; Punzi, Leonardo; Galeazzi, Mauro; Rigante, Donato (2014). "Diagnosis and classification of relapsing polychondritis". Journal of Autoimmunity. Elsevier BV. 48–49: 53–59. doi:10.1016/j.jaut.2014.01.026. ISSN 0896-8411. PMID 24461536.
- 1 2 3 4 Nakai, Noriaki; Kaneko, Yuka; Kida, Takashi; Kawahito, Yutaka; Katoh, Norito (2016). "Mouth and genital ulcers with inflamed cartilage syndrome: Case report and review of the published work". Indian Journal of Dermatology. Medknow. 61 (3): 347. doi: 10.4103/0019-5154.182463 . ISSN 0019-5154. PMID 27293269.
- 1 2 3 4 5 6 Kötter, I; Deuter, C; Günaydin, I; Zierhut, M (2006). "MAGIC or not MAGIC--does the MAGIC (mouth and genital ulcers with inflamed cartilage) syndrome really exist? A case report and review of the literature". Clinical and Experimental Rheumatology. 24 (5 Suppl 42): S108–S112. PMID 17067439 . Retrieved 13 January 2024.
- ↑ Nascimento, Ana Claudia Mendes do; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Helio Amante (2014). "Syndrome In Question". Anais Brasileiros de Dermatologia. FapUNIFESP (SciELO). 89 (1): 177–179. doi:10.1590/abd1806-4841.20142615. ISSN 0365-0596. PMC 3938379 . PMID 24626673.
- 1 2 Firestein, Gary S.; Gruber, Harry E.; Weisman, Michael H.; Zvaifler, Nathan J.; Barber, Joan; O'Duffy, J.Desmond (1985). "Mouth and genital ulcers with inflamed cartilage: MAGIC syndrome. Five patients with features of relapsing polychondritis and behçet's disease". The American Journal of Medicine. Elsevier BV. 79 (1): 65–72. doi:10.1016/0002-9343(85)90547-9. ISSN 0002-9343. PMID 4014306.