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Naxos Syndrome
__notoc__ Naxos syndrome or Naxos disease (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy" or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Dr. Nikos Protonotarios) is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands. It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP). Naxos disease has the same cutaneous phenotype as the Carvajal syndrome. Symptoms Between 80 and 99% of those with Naxos disease will display some of the following symptoms: * Disease of the heart muscle * Thickening of palms and soles * Sudden increased heart rate * Dizzy spells * Kinked hair See also * Olmsted syndrome * List of cutaneous conditions ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, and its behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disease. ACM is caused by genetic defects of parts of the cardiac muscle known as desmosomes, areas on the surface of muscle cells which link them together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations. ARVC can also develop in intense endurance training, endurance athletes in the absence of desmosomal abnormalities. Exercise-induced ARVC is possibly a result of excessive right ventricular wall stress during high intensity exercise. The disease is a type of Ischemia, non-ischemic cardiomyopathy that primarily involves the Ventricle (heart), right ventricle, though cases of exclusive left ventricular disease have been reported. It is characterized by hypokinesia, hypokinetic areas involving the free wall of the ventricle, with fibrofatty replacement of the myocardium, with associated Heart arrhythmia, arrhythmias often originating in the right ventricle. The nomenc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Naxos
Naxos (; , ) is a Greek island belonging to the Cyclades island group. It is the largest island in the group. It was an important centre during the Bronze Age Cycladic Culture and in the Ancient Greek Archaic Period. The island is famous as a source of emery, a rock rich in corundum, which until modern times was one of the best abrasives available. The largest town and capital of the island is Chora or Naxos City, with 8,897 inhabitants (2021 census). The main villages are Filoti, Apiranthos, Vivlos, Agios Arsenios, Koronos and Glynado. History Mythic Naxos According to Greek mythology, the young Zeus was raised in a cave on Mt. Zas ("''Zas''" meaning "''Zeus''"). Homer mentions " Dia"; literally the sacred island "of the Goddess". Károly Kerényi explains: One legend has it that in the Heroic Age before the Trojan War, Theseus abandoned Ariadne on this island after she helped him kill the Minotaur and escape from the Labyrinth. Dionysus (god of wine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nikos Protonotarios
Nikos Protonotarios (Naxos, 1 October 1956 – Athens, 25 September 2014) was a Greek researcher and cardiologist who made fundamental contributions to the field of arrhythmogenic myocardial diseases. Biography He was born in Apeiranthos, Naxos, Greece. In 1981, he graduated at the top of his class from the Medical School of the National and Kapodistrian University of Athens The National and Kapodistrian University of Athens (NKUA; , ''Ethnikó kai Kapodistriakó Panepistímio Athinón''), usually referred to simply as the University of Athens (UoA), is a public university in Athens, Greece, with various campuses alo .... In 1983, he returned to his hometown, Naxos, where he fulfilled his Rural Medical Service. During this period, along with his wife, Dr. Antigoni-Eleni Tsatsopoulou, he identified and studied the first cases of arrhythmogenic myocardial disease, which he later made known to the global medical community as "Naxos Disease" through his historic work in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palmoplantar Keratoderma
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described in medical literature. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: * ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner", "Vörner's epidermo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Desmoplakin
Desmoplakin is a protein in humans that is encoded by the ''DSP'' gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury; striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus. Structure Desmoplakin exists as two predominant isoforms; the first, known as "DPII", has molecular weight 260.0 kDa (2272 amino acids) and the second, known as "DPI", has molecular weight 332.0 kDa (2871 amino acids). These isoforms are identical except for the shorter rod domain in DPII. DPI is the predomi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plakoglobin
Plakoglobin, also known as junction plakoglobin or gamma-catenin, is a protein that in humans is encoded by the ''JUP'' gene. Plakoglobin is a member of the catenin protein family and homologous to β-catenin. Plakoglobin is a cytoplasmic component of desmosomes and adherens junctions structures located within intercalated discs of cardiac muscle that function to anchor sarcomeres and join adjacent cells in cardiac muscle. Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. Structure Human plakoglobin is 81.7 kDa in molecular weight and 745 amino acids long. The ''JUP'' gene contains 13 exons spanning 17 kb on chromosome 17q21. Plakoglobin is a member of the catenin family, since it contains a distinct repeating amino acid motif called the armadillo repeat. Plakoglobin is highly similar to β-catenin; both have 12 armadillo repeats as well as N-terminal and C-terminal globular domains of unknown structure. Plakoglobin was originally ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DSC2
Desmocollin-2 is a protein that in humans is encoded by the ''DSC2'' gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in ''DSC2'' have been causally linked to arrhythmogenic right ventricular cardiomyopathy. Structure Desmocollin-2 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. Three different posttranslational modifications (''N''-Glycosylations, ''O''-Mannosylations and disulfide bridges) were present in the extracellular domain of desmocollin-2. The desmocollin family members are arranged as closely linked genes on human chromosome 18q12.1. Human ''DSC2'' consists of greater than 32 kb of DNA and has 17 exons, with exon 16 being alternatively spliced and encoding dist ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carvajal Syndrome
Carvajal (also spelled Carbajal) is a Spanish surname and place name. Notable people with the surname include: * Ailem Carvajal Gómez (born 1972), Cuban composer and pianist * Alfonso Carvajal (writer) (born 1958), Colombian writer and editor * Andarín Carvajal (1875–1949), Cuban athlete * Antonio Fernandez Carvajal (c.1590–1659), Portuguese Jewish merchant, and the first naturalized English Jew * Beatriz Carvajal (born 1949), Spanish actress * Bernardino López de Carvajal (1455–1523), Spanish cardinal * Dani Carvajal (born 1992), Spanish footballer * Francisco de Carvajal (1464–1548), Spanish military officer, conquistador, and explorer * Francisco Fernández Carvajal (born 1938), Spanish priest in the Opus Dei Prelature and author of several books * Francisco S. Carvajal (1870–1932), Mexican president in 1914 * Gaspar de Carvajal (c.1500–1584), Spanish Dominican missionary to the New World * Hilda Pérez Carvajal (born 1945), Venezuelan biologist * Iván C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Olmsted Syndrome
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described in medical literature. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: * ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner", "Vörner's epidermo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis (skin), epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. Embryology, In the embryo, the epidermis, hair, and glands form from the ectod ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
