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Dysplastic Nevus Syndrome
Dysplastic nevus syndrome, also known as familial atypical multiple mole–melanoma (FAMMM) syndrome, is an inherited cutaneous condition described in certain families, and characterized by unusual nevi and multiple inherited melanomas. First described in 1820, the condition is inherited in an autosomal dominant pattern, and caused by mutations in the CDKN2A gene. In addition to melanoma, individuals with the condition are at increased risk for pancreatic cancer. The diagnosis of dysplastic nevus syndrome is based on clinical presentation and family history. Treatment consists of resection of malignant skin lesions (melanoma). Screening for pancreatic cancer may be considered, particularly if there is a family history. Signs and symptoms Dysplastic nevus syndrome is characterized by unusual nevi and multiple inherited melanomas.Czajkowski, R., ''FAMMM Syndrome: Pathogenesis and Management'', Dermatologic Surgery, Vol. 30 Issue 2 p2, p291-296, 2004. Genetics The CDKN2A gene ...
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Cutaneous Condition
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause (skin conditions result ...
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National Institutes Of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program. , the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic, translational, and clinical research, being the largest biomedical research instit ...
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ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in 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 .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ...
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List Of Genes Mutated In Pigmented Cutaneous Lesions
A number of gene mutations have been linked to conditions of or affecting the human integumentary system. See also * List of radiographic findings associated with cutaneous conditions * List of cutaneous conditions caused by mutations in keratins * List of contact allergens * List of histologic stains that aid in diagnosis of cutaneous conditions * List of target antigens in pemphigus * List of specialized glands within the human integumentary system * List of cutaneous conditions associated with internal malignancy References * * {{DEFAULTSORT:Genes mutated in cutaneous conditions Cutaneous conditions Dermatology-related lists Mutated Cutaneous conditions A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ...
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Endoscopic Ultrasound
Endoscopic ultrasound (EUS) or echo-endoscopy is a medical procedure in which endoscopy (insertion of a probe into a hollow organ) is combined with ultrasound to obtain images of the internal organs in the chest, abdomen and colon. It can be used to visualize the walls of these organs, or to look at adjacent structures. Combined with Doppler imaging, nearby blood vessels can also be evaluated. Endoscopic ultrasonography is most commonly used in the upper digestive tract and in the respiratory system. The procedure is performed by gastroenterologists or pulmonologists who have had extensive training. For the patient, the procedure feels almost identical to the endoscopic procedure without the ultrasound part, unless ultrasound-guided biopsy of deeper structures is performed. Digestive tract Upper digestive tract For endoscopic ultrasound of the upper digestive tract, a probe is inserted into the esophagus, stomach, and duodenum during a procedure called esophagogastroduodenoscopy. ...
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Mayo Clinic
The Mayo Clinic () is a nonprofit American academic medical center focused on integrated health care, education, and research. It employs over 4,500 physicians and scientists, along with another 58,400 administrative and allied health staff, across three major campuses: Rochester, Minnesota; Jacksonville, Florida; and Phoenix/Scottsdale, Arizona. The practice specializes in treating difficult cases through tertiary care and destination medicine. It is home to the top-15 ranked Mayo Clinic Alix School of Medicine in addition to many of the highest regarded residency education programs in the United States. It spends over $660 million a year on research and has more than 3,000 full-time research personnel. William Worrall Mayo settled his family in Rochester in 1864 and opened a sole proprietorship medical practice that evolved under his sons, Will and Charlie Mayo, along with practice partners Stinchfield, Graham, Plummer, Millet, Judd, and Balfour, into Mayo Clinic. Toda ...
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Dermatologist
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 ...
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Nevi
Nevus (plural nevi) is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. The term originates from ''nævus'', which is Latin for "birthmark"; however, a nevus can be either congenital (present at birth) or acquired. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific types of nevi from one another. Classification The term ''nevus'' is applied to a number of conditions caused by neoplasias and hyperplasias of melanocytes, as well as a number of pigmentation disorders, both hypermelanotic (containing increased melanin, the pigment responsible for skin color) and hypomelanotic (containing decreased melanin). Suspicious skin moles which are multi-colored or pink may be a finding in skin cancer. Increased melanin Usually acquired * Melanocytic nevus ** Melanocytic nevi can be categorized based on the location of melanocytic cells *** Junctional: epidermis * ...
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Dysplastic Nevus
A dysplastic nevus or atypical mole is a nevus (mole) whose appearance is different from that of common moles. In 1992, the NIH recommended that the term "dysplastic nevus" be avoided in favor of the term "atypical mole". An atypical mole may also be referred to as an atypical melanocytic nevus, atypical nevus, B-K mole, Clark's nevus, dysplastic melanocytic nevus, or nevus with architectural disorder. Dysplastic nevi often grow to larger than ordinary moles and may have irregular and indistinct borders. Their color may not be uniform and may range from light pink to very dark brown. They usually begin flat, but parts may be raised above the skin surface. See ABCDE and "ugly duckling" characteristics below. Dysplastic nevi can be found anywhere, but are most common on the trunk in men, and on the calves in women. There is some controversy in the dermatology community as to whether or not the "dysplastic"/"atypical" nevus exists. Some have argued that the terms "dysplastic" and ...
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Superficial Spreading Melanoma
Superficial spreading melanoma (SSM) is usually characterized as the most common form of cutaneous melanoma in Caucasians. The average age at diagnosis is in the fifth decade, and it tends to occur on sun-exposed skin, especially on the backs of males and lower limbs of females. Signs and symptoms Often, this disease evolves from a precursor lesion, usually a dysplastic nevus. Otherwise it arises in previously normal skin. A prolonged radial growth phase, where the lesion remains thin, may eventually be followed by a vertical growth phase where the lesion becomes thick and nodular. As the risk of spread varies with the thickness, early SSM is more frequently cured than late nodular melanoma. Histopathology The microscopic hallmarks are: * Large melanocytic cells with nest formation along the dermo-epidermal junction. * Invasion of the upper epidermis in a pagetoid fashion (discohesive single cell growth). * The pattern of rete ridges is often effaced. * Invasion of the dermis b ...
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms among all individuals with such mutation. For example, if a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will develop the disease, while 5% will not. A condition, most commonly inherited in an autosomal dominant manner, is said to show complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation. A condition which shows complete penetrance is neurofibromatosis type 1 – every person who has a mutation in the gene will show symptoms of the condition. The penetrance is 100%. Common examples used to show degrees of penetrance are ...
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