|
PTEN Hamartoma Tumor Syndrome
Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma. It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermitte–Duclos disease under this description. Some articles include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS). See also * PTEN (gene) * List of cutaneous conditions * List of syndromes * Characteristics of syndromic ASD conditions Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition, generally a syndrome. Cases without such association, which account for the majority of tota ... References External links Epidermal nevi, neoplasms, and cysts Syndromes affecting the skin {{epidermal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hamartoma
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell ( monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term ''hamartoma'' is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts of the body and are most often asy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cowden Syndrome
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The incidence of Cowden's disease is about 1 in 200,000, making it quite rare. Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies. It is associated with mutations in PTEN on 10q23.3, a tumor suppressor gene otherwise known as phosphatase and tensin homolog, that results in dysregulation of the mTOR pathway leading to errors in cell proliferation, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Subject Headings
Medical Subject Headings (MeSH) is a comprehensive controlled vocabulary for the purpose of indexing journal articles and books in the life sciences. It serves as a thesaurus that facilitates searching. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed article database and by NLM's catalog of book holdings. MeSH is also used by ClinicalTrials.gov registry to classify which diseases are studied by trials registered in ClinicalTrials. MeSH was introduced in the 1960s, with the NLM's own index catalogue and the subject headings of the Quarterly Cumulative Index Medicus (1940 edition) as precursors. The yearly printed version of MeSH was discontinued in 2007; MeSH is now available only online. It can be browsed and downloaded free of charge through PubMed. Originally in English, MeSH has been translated into numerous other languages and allows retrieval of documents from different origins. Structure MeSH vocabulary is divi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bannayan–Riley–Ruvalcaba Syndrome
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes. Signs and symptoms Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.update 2016 The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of deve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lhermitte–Duclos Disease
Lhermitte–Duclos disease (LDD) (), also called dysplastic gangliocytoma of the cerebellum, is a rare diseases, rare, slowly growing tumor of the cerebellum, a ganglioglioma, gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. It is often associated with Cowden syndrome. It was described by Jacques Jean Lhermitte and P. Duclos in 1920. Signs and symptoms Main clinical signs and symptoms include: * headache * movement disorders * tremor * visual disturbances * abnormal EEG * Diplopia Patients with Lhermitte–Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, may cause neurological injury including abnormal movements. MICROSCOPY (lhermitte-duclos disease) 1>Enlarged circumscribed cerebellar folia 2>internal granular layer is focally indistinct and is occupied by large ganglion cells 3>myelinated tracks in outer molecular layer 4>underlying white matt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteus Syndrome
Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition.Woman's 11-stone legs may be lost at As attenuated forms of the disease may exist, there could be many people with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteus-like Syndrome
Proteus-like syndrome (PLS) is a condition similar to Proteus syndrome, but with an uncertain cause.It's characterized by skeletal and hamartous overgrowth of multiple tissues, nevi in cerebriform connective tissue, blood vessel malformations and linear epidermal nevi. It was featured aa the first story in the 7th episode of the 10th season of Mystery Diagnosis. See also * List of cutaneous conditions * PTEN (gene) * Multiple hamartoma syndrome Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma. It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermit ... References External links GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS) Deficiencies of intracellular signaling peptides and proteins Genodermatoses Syndromes {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTEN (gene)
Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the ''PTEN'' gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate cancer. Genes corresponding to PTEN (orthologs) have been identified in most mammals for which complete genome data are available. ''PTEN'' acts as a tumor suppressor gene through the action of its phosphatase protein product. This phosphatase is involved in the regulation of the cell cycle, preventing cells from growing and dividing too rapidly. It is a target of many anticancer drugs. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin-like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It nega ... [...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 body and composed of skin, hair, 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, 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. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Syndromes
This is an alphabetically sorted list of medical syndromes. starting with numbers. #13q deletion syndrome # 17q21.31 microdeletion syndrome #1p36 deletion syndrome # 1q21.1 deletion syndrome #1q21.1 duplication syndrome # 22q11.2 distal deletion syndrome # 22q11.2 duplication syndrome #22q13 deletion syndrome # 2p15-16.1 microdeletion syndrome # 2q37 deletion syndrome #3-M syndrome # 3C syndrome #3q29 microdeletion syndrome # 49,XXXXY # 4D syndrome # 8p23.1 duplication syndrome # 9q34 deletion syndrome A # Aagenaes syndrome # Aarskog–Scott syndrome # Aase syndrome #Abandoned child syndrome #ABCD syndrome # Abdallat–Davis–Farrage syndrome # Abderhalden–Kaufmann–Lignac syndrome #Abdominal compartment syndrome # abdominal wall pain syndrome # Ablepharon macrostomia syndrome # Abruzzo–Erickson syndrome # Achard syndrome # Achard–Thiers syndrome #Ackerman syndrome # Acorea, microphthalmia and cataract syndrome #Acrocallosal syndrome #Acropectoral syndrome #Acro–dermato ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Characteristics Of Syndromic ASD Conditions
Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition, generally a syndrome. Cases without such association, which account for the majority of total autism cases, are known as ''non-syndromic autism'' (or ''non-syndromic autism spectrum disorders''). Studying the differences and similarities (e.g. common pathways) between syndromic and non-syndromic cases can provide insights about the pathophysiology of autism and pave the way to new autism therapies. Syndromic autism Autism spectrum disorder (ASD) is referred to as syndromic when it is one of the many characteristics associated with a broader medical condition, generally a syndrome. Syndromic autism represents about 25% of the total ASD cases. In most cases, its etiology is known. Monogenic disorders are one of the causes of syndromic autism, which in this case are also known as ''monogenic autism spectrum disorders.'' T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
