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Familial Multiple Cafe-au-lait Spots
Familial multiple cafe au lait spots, also known as Autosomal dominant multiple cafe au lait spots or Neurofibromatosis type 6, is a rare, cutaneous genetic disorder which is characterized by the hereditary cutaneous presence of several cafe-au-lait spots without any other symptoms of neurofibromatosis Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown sp .... Sporadic cases may be called "Sporadic multiple cafe au lait spots". Few cases have been described in medical literature, although it is estimated that the presence of multiple cafe au lait spots without NF1 is rare (but not extremely rare) among the general population. History It was first discovered when ''Riccardi et al.'' described multiple families with cafe-au-lait spots and no association for neurofibromatosis in 1980. I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatology
Dermatology is the branch of medicine dealing with the skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medical doctor who manages diseases related to skin, hair, nails, and some cosmetic problems. Etymology Attested in English in 1819, the word "dermatology" derives from the Greek δέρματος (''dermatos''), genitive of δέρμα (''derma''), "skin" (itself from δέρω ''dero'', "to flay") and -λογία '' -logia''. Neo-Latin ''dermatologia'' was coined in 1630, an anatomical term with various French and German uses attested from the 1730s. History In 1708, the first great school of dermatology became a reality at the famous Hôpital Saint-Louis in Paris, and the first textbooks (Willan's, 1798–1808) and atlases ( Alibert's, 1806–1816) appeared in print around the same time.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, ... (NF2), and schwannomatosis. In NF1 symptoms include Cafe au lait spots, light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle atrophy, muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally Benign, non-cancerous. The cause is a genetic mutation in certain oncogenes. These can be heredity, inherited from a pers ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation is any mutation/alteration in the genome of any organism (humans, animals, plant, microbes, etc.) that wasn't present or transmitted by their parents. This type of mutation (like any other) occurs spontaneously during the process of DNA replication during cell division in a fetus whose close, biological relatives don't have the mutation. Often, these kind of mutations have very little to no effect on the affected organism, but in rare cases they have a notable and/or serious effect on overall health, physical appearance, etc. Rate The average number of spontaneous mutations (not present in the parents) an infant has in its genome is approximately 43.86 DNMs. A study done in September of 2019 by the University of Utah Health revealed that certain families have a higher spontaneous mutation rate than average, meaning that their newborns had more spontaneous mutations (not present in their parents) than the average newborn, this tendency was found to be hereditar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lisch Nodule
Lisch nodule, also known as iris hamartoma, is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris, named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937. The first published use of the term ''Lisch nodule'' was in the ''New England Journal of Medicine'' "Medical Progress" series article of December 31, 1981 (Riccardi VM: Von Recklinghausen Neurofibromatosis. N Engl J Med 1981;305:1617-27). These nodules are found in neurofibromatosis type 1, and are present in greater than 94% of patients over the age of six. They are clear, yellow-brown, oval to round, dome-shaped papules that project from the surface of the iris. These nodules typically do not affect vision, but are very useful in diagnosis. They are detected by slit lamp examination. Immunohistochemistry stains positive against the proteins vimentin and S-100, and points to an ectodermal origin for the nodules. Their precise origin and structure ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
