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PAPA Syndrome
PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterised by its effects on skin and joints. Signs and symptoms PAPA syndrome usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty. The arthritis is the predominant feature, noted by its juvenile onset and destructive course. Individuals often recall episodes of arthritis precipitated by a traumatic event. With repeated episodes the joints become damaged with multiple joint replacements required. Hopefully, with improved treatment options, the damage will be limited in new cases. Pyoderma gangrenosum is variably expressed, which means that it is not always present in all individuals with the disease. It presents as poorly healing ulcers with undermined edges. Pathergy is an important feature (this term refers to the tendency of ulcers to arise at points of injury). There are reports of lesions developing at the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acne
Acne, also known as ''acne vulgaris'', is a long-term Cutaneous condition, skin condition that occurs when Keratinocyte, dead skin cells and Sebum, oil from the skin clog hair follicles. Typical features of the condition include comedo, blackheads or whiteheads, pimples, oily skin, and possible scarring. It primarily affects skin with a relatively high number of sebaceous gland, oil glands, including the face, upper part of the chest, and back. The resulting appearance can lead to anxiety (mood), anxiety, reduced self-esteem, and, in extreme cases, clinical depression, depression or suicidal ideations, thoughts of suicide. Susceptibility to acne is primarily genetic in 80% of cases. The roles of diet and cigarette smoking in the condition are unclear, and neither hygiene, cleanliness nor exposure to sunlight appear to play a part. In both sexes, hormones called androgens appear to be part of the underlying mechanism, by causing increased production of sebum. Another common fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Isotretinoin
Isotretinoin, also known as 13-''cis''-retinoic acid and sold under the brand name Accutane among others, is a medication primarily used to treat severe acne. It is also used to prevent certain skin cancers (squamous-cell carcinoma), and in the treatment of other cancers. It is used to treat harlequin-type ichthyosis, a usually lethal skin disease, and lamellar ichthyosis. It is a retinoid, meaning it is related to vitamin A, and is found in small quantities naturally in the body. Its isomer, tretinoin, is also an acne drug. The most common adverse effects are dry lips ( cheilitis), dry and fragile skin, and an increased susceptibility to sunburn. Uncommon and rare side effects include muscle aches and pains (myalgias), and headaches. Isotretinoin is known to cause birth defects due to in-utero exposure because of the molecule's close resemblance to retinoic acid, a natural vitamin A derivative that controls normal embryonic development. It is also associated with psychiatri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetracycline Antibiotics
Tetracyclines are a group of broad-spectrum antibiotic compounds that have a common basic structure and are either isolated directly from several species of ''Streptomyces'' bacteria or produced semi-synthetically from those isolated compounds. Tetracycline molecules comprise a linear fused tetracyclic nucleus (rings designated A, B, C and D) to which a variety of functional groups are attached. Tetracyclines are named for their four ("tetra-") hydrocarbon rings ("-cycl-") derivation ("-ine"). They are defined as a subclass of polyketides, having an octahydrotetracene-2-carboxamide skeleton and are known as derivative (chemistry), derivatives of polycyclic naphthacene carboxamide. While all tetracyclines have a common structure, they differ from each other by the presence of chloride, methyl, and hydroxyl groups. These chemical modification, modifications do not change their broad antibacterial activity, but do affect pharmacological properties such as half-life and binding to prot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Family History
Genealogy () is the study of families, family history, and the tracing of their Lineage (anthropology), lineages. Genealogists use oral interviews, historical records, genetic analysis, and other records to obtain information about a family and to demonstrate kinship and Pedigree chart, pedigrees of its members. The results are often displayed in charts or written as narratives. The field of family history is broader than genealogy, and covers not just lineage but also family and community history and biography. The record of genealogical work may be presented as a "genealogy", a "family history", or a "family tree". In the narrow sense, a "genealogy" or a "family tree" traces the descendants of one person, whereas a "family history" traces the ancestors of one person, but the terms are often used interchangeably. A family history may include additional biographical information, family traditions, and the like. The pursuit of family history and origins tends to be shaped by s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Cold Urticaria
Cold urticaria (essentially meaning cold hives) is a disorder in large red welts called hives (''urticaria'') form on the skin after exposure to a cold stimulus. The hives are usually itchy and often the hands and feet will become itchy and swollen as well. Hives vary in size from about in diameter to as big as about or larger. This disorder, or perhaps two disorders with the same clinical manifestations, can be inherited (''familial cold urticaria'') or acquired (''primary acquired cold urticaria''). The acquired form is most likely to begin between ages 18 and 25, although it can occur as early as 5 years old in some cases. Life-threatening risks include suffocation resulting from swollen tissue (Pharynx, pharyngeal angioedema) induced by cold foods or beverages, drowning after shock from swimming in cold water, and anaphylactic shock. Types Cold urticaria may be divided into the following types: Primary cold contact urticaria Primary cold contact urticaria is a cutaneous c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Onset Multisystem Inflammatory Disease
Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes. NOMID can result from a mutation in the ''CIAS1'' gene (also known as ''NLRP3'' gene), which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle–Wells syndrome. NOMID has been successfully treated with the drug anakinra. This syndrome is also known as the Prieur–Griscelli syndrome as it was first described by these authors in 1981.Prieur AM, Griscelli C (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J. Pediat 99:79-83 Signs and symptoms The age of onset is almost always before 3 months of age. Many infants are born preterm (1/3 cases) and dysmature ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muckle–Wells Syndrome
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS). Sign and symptoms * Sensorineural deafness * Recurrent urticaria (hives) * Fevers * Chills * Arthralgia (painful joints) Causes MWS occurs when a mutation in the ''CIAS1'' gene, encoding for NLRP3, leads to increased activity of the protein cryopyrin. This protein is partly responsible for the body's response to damage or infection. During these states, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperimmunoglobulinemia D With Recurrent Fever
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a very rare genetic disease. It is characterized by an elevated level of immunoglobulin D in the blood. Mevalonate kinase (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes mevalonate kinase which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body, with high levels found in the urine. The severity of MKD depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and mevalonic aciduria (MVA); a more severe, but rarer form. Genetics Mevalonate kinase deficiency is inherited in an autosomal r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin. While all ethnic groups are susceptible to FMF, it usually occurs in people of Mediterranean origin—including Sephardic Jews, Mizrahi Jews, Ashkenazi Jews, Assyrian People, Assyrians, Armenians, Azerbaijanis, Levantine people, Levantines, Kurds, Greeks, Turkish people, Turks and Italians. The disorder has been given various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease. Note that "periodic fever" can also refer to any of the periodic fever syndromes. Signs and symptoms Attacks There are seven types of attacks. Ninety percent of all patients have t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoinflammatory Disease
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system. The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis. Most autoinflammatory diseases are genetic and present during childhood. The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin. Pyrin is a protein n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CD2BP1
Proline-serine-threonine phosphatase-interacting protein 1 is an enzyme that in humans is encoded by the ''PSTPIP1'' gene. Interactions PSTPIP1 has been shown to interact with: * Abl gene, * BZW1, * CD2, * PTPN12, * PTPN18, and * Wiskott-Aldrich syndrome protein. See also * PAPA syndrome PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterised by its effects on skin and joints. Signs and symptoms PAPA syndrome usually begins with arthritis at a young age, with t ... References Further reading * * * * * * * * * * * * * * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
