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Steatocystoma Multiplex
Steatocystoma multiplex, is a benign, autosomal dominant congenital condition resulting in multiple cysts on a person's body. Steatocystoma simplex is the solitary counterpart to steatocystoma multiplex. In steatocystoma multiplex, the tendency to develop cysts is inherited in an autosomal dominant fashion, so one parent can be expected to also have steatocystoma multiplex. It may also occur sporadically. Both males and females may be affected. The onset at puberty is presumably due to hormonal stimulus of the pilosebaceous unit. They most often arise on the chest and may also occur on the abdomen, upper arms, armpits and face. In some cases cysts may develop all over the body. The cysts are mostly small (2–20 mm) but they may be several centimetres in diameter. They tend to be soft to firm semi-translucent bumps, and contain an oily, yellow liquid. Sometimes a small central punctum can be identified and they may contain one or more hairs (eruptive vellus hair cysts). They may ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benign
Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis. Malignant tumors are also characterized by genome instability, so that cancers, as assessed by whole genome sequencing, frequently have between 10,000 and 100,000 mutations in their entire genomes. Cancers usually show tumour heterogeneity, containing multiple subclones. They also frequently have reduced expression of DNA repair enzymes due to Epigenetics#DNA repair epigenetics in cancer, epigenetic methylation of DNA repair genes or altered MicroRNA#DNA repair and cancer, micr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions Caused By Mutations In Keratins
There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease. Of note, other structural proteins in the epidermis of the skin that are closely related to keratins may also cause disease if mutated. Examples include: Footnotes See also * List of keratins expressed in the human integumentary system * List of cutaneous conditions caused by problems with junctional proteins * List of target antigens in pemphigoid * List of target antigens in pemphigus * Cutaneous conditions with immunofluorescence findings * List of cutaneous conditions * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * Keratoderma Keratoderma is a hornlike skin condition. Classification The keratodermas are classified into the following subgroups:Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). ... [...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] |
Keratin Disease
A keratin disease is a genetic disorder of one of the keratin genes. An example is monilethrix. The first to be identified was epidermolysis bullosa simplex. Pathology Examples of keratin disease include: See also * List of cutaneous conditions caused by mutations in keratins There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease. Of note, other structural proteins in the epidermis of the skin that are closely rel ... References Cytoskeletal defects {{Genodermatoses-stub ... [...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] |
Cryotherapy
Cryotherapy, sometimes known as cold therapy, is the local or general use of low temperatures in medical therapy. Cryotherapy may be used to treat a variety of tissue lesions. The most prominent use of the term refers to the surgical treatment, specifically known as cryosurgery or cryoablation. Cryosurgery is the application of extremely low temperatures to destroy abnormal or diseased tissue and is used most commonly to treat skin conditions. Cryotherapy is used in an effort to relieve muscle pain, sprains and swelling after soft tissue damage or surgery. For decades, it has been commonly used to accelerate recovery in athletes after exercise. Cryotherapy decreases the temperature of tissue surface to minimize hypoxic cell death, edema accumulation, and muscle spasms, all of which ultimately alleviate discomfort and inflammation. It can be a range of treatments from the application of ice packs or immersion in ice baths (generally known as cold therapy), to the use of cold chambe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 17
Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the ''KRT17'' gene. Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages. Mutations in the gene encoding this protein lead to PC-K17 (previously known as Jackson-Lawler) type pachyonychia congenita and steatocystoma multiplex. Interactions Keratin 17 has been shown to interact with CCDC85B Coiled-coil domain-containing protein 85B is a protein that in humans is encoded by the ''CCDC85B'' gene. Function Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. .... References Further reading * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita Keratins {{gene-17-stub ... [...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] |
Relative Incidence Of Cutaneous Cysts
Relative may refer to: General use *Kinship and family, the principle binding the most basic social units society. If two people are connected by circumstances of birth, they are said to be ''relatives'' Philosophy *Relativism, the concept that points of view have no absolute truth or validity, having only relative, subjective value according to differences in perception and consideration, or relatively, as in the relative value of an object to a person *Relative value (philosophy) Economics *Relative value (economics) Popular culture Film and television * ''Relatively Speaking'' (1965 play), 1965 British play * ''Relatively Speaking'' (game show), late 1980s television game show * ''Everything's Relative'' (episode)#Yu-Gi-Oh! (Yu-Gi-Oh! Duel Monsters), 2000 Japanese anime ''Yu-Gi-Oh! Duel Monsters'' episode *'' Relative Values'', 2000 film based on the play of the same name. *''It's All Relative'', 2003-4 comedy television series *''Intelligence is Relative'', tag line for t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
