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Monilethrix
Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (''monile'') and the Greek word for hair (''thrix''). Hair becomes brittle, and breaks off at the thinner parts between the beads. It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith Signs and symptoms Some indicators of monilethrix are small bumps on the skin, mainly on the scalp, neck and arms. In most cases, firm, dark papules, covered with dark scales and crusts appears on the skin, especially the scalp. The affected individual would have beaded hair strands. The possible areas for the hair loss are the eyebrows, eyelashes, limbs, and pubic region. Hair strands are usually dull, dry, and brittle. The strands are prone to mild to severe breakage, causing onset alopecia, especially during pregnancy. Fingernail and toenails tend to appear abnorm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KRT86
Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the ''KRT86'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KRT81
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the ''KRT81'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KRT83
Keratin 83, also known as KRT83, is a protein which humans is encoded by the ''KRT83'' gene. Function The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1 ( KRT81), KRTHB3 (KRT83, this protein), and KRTHB6 (KRT86), is highly related. The other less-related subfamily includes KRTHB2 ( KRT82), KRTHB4 ( KRT84), and KRTHB5 (KRT85). All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. Clinical significance Mutations in the ''KRT83'' gene have been associated with monilethrix Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trichoscopy
Trichoscopy is a method of hair and scalp evaluation and is used for diagnosing hair and scalp diseases. The method is based on dermoscopy. In trichoscopy hair and scalp structures may be visualized at many-fold magnification. Currently magnifications ranging from 10-fold to 70-fold are most popular in research and clinical practice. The method was developed by groups of dermatologists directed by: Lidia Rudnicka in Poland, Antonella Tosti and Giuseppe Micali in Italy and Shigeki Inui in Japan. In 2004 Francesco Lacarrubba and coworkers first described videodermoscopic features of alopecia areata (micro-exclamation hairs, yellow hyperkeratotic hair follicle openings, and black cadaverized hairs. In 2005 Malgorzata Olszewska and Lidia Rudnicka first used videodermoscopy for evaluation of disease severity in androgenic alopecia and for monitoring treatment efficacy. Characteristic images of female androgenic alopecia included hair shaft heterogeneity and increased percentage of thi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatoscopy
Dermatoscopy also known as dermoscopy or epiluminescence microscopy, is the examination of skin lesions with a dermatoscope. It is a tool similar to a camera to allow for inspection of skin lesions unobstructed by skin surface reflections. The dermatoscope consists of a magnifier, a light source (polarized or non-polarised), a transparent plate and sometimes a liquid medium between the instrument and the skin. Dermatoscope is often handheld, although there are stationary cameras allowing the capture of whole body images in a single shot. When the images or video clips are digitally captured or processed, the instrument can be referred to as a digital epiluminescence dermatoscope. The image is then analyzed automatically and given a score indicating how dangerous it is. This technique is useful to dermatologists and skin cancer practitioners in distinguishing benign from malignant (cancerous) lesions, especially in the diagnosis of melanoma. Types of dermatoscopy There are two m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Conditions Caused By Problems With Junctional Proteins
Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integumentary system * List of target antigens in pemphigus * List of immunofluorescence findings for autoimmune bullous conditions * 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.). McGraw-Hill. . Congenital * Simple ker ... References * * {{DEFAULTSORT:Cutaneous conditions caused by problems with junctional proteins Junctional proteins Dermatology-related lists ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytoskeletal Defects
The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is composed of similar proteins in the various organisms. It is composed of three main components, microfilaments, intermediate filaments and microtubules, and these are all capable of rapid growth or disassembly dependent on the cell's requirements. A multitude of functions can be performed by the cytoskeleton. Its primary function is to give the cell its shape and mechanical resistance to deformation, and through association with extracellular connective tissue and other cells it stabilizes entire tissues. The cytoskeleton can also contract, thereby deforming the cell and the cell's environment and allowing cells to migrate. Moreover, it is involved in many cell signaling pathways and in the uptake of extracellular material (endocytosis), the segr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
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 incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Conditions Of The Skin Appendages
Condition or conditions may refer to: In philosophy and logic * Material conditional, a logical connective used to form "if...then..." statements * Necessary and sufficient condition, a statement which is true if and only if another given statement is true In science and technology In computer science * Exception handling#Condition systems, a generalization of exceptions in exception handling * Condition (SQL), a filtering mechanism in relational database queries * Condition variable, a synchronization primitive in concurrent programming In medicine * Medical condition, as a synonym for disease * Medical state or condition, a patient's clinical status in a hospital In numerical analysis * Condition number, a measure of a matrix in digital computation In arts and entertainment * ''Condition'' (film), a 2011 film * ''Conditions'' (album), 2009 debut album by Australian rock band The Temper Trap * ''Conditions'' (magazine), an annual lesbian feminist literary magazine * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 List of dermatologists, dermatologist .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ... [...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 A number of histologic stains are used in the field of dermatology that aid in the diagnosis of conditions of or affecting the human integumentary system The integumentary system is the set of organs forming th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
