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Congenital Ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes , since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases. Types Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the umbrella term autosomal recessive congenital ichthyosis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatology
Dermatology is the branch of medicine dealing with the Human skin, 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 is a specialist medical doctor who manages diseases related to skin. Etymology Attested in English in 1819, the word "dermatology" derives from the Ancient Greek, Greek δέρματος (''dermatos''), genitive of δέρμα (''derma''), "skin" (itself from δέρω ''dero'', "to flay") and -λογία ''wikt:-logia, -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 (Jean-Louis-Marc Alibert, Alibert's, 1806–1816) appeared in print around the same time.Freedber ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Harlequin-type Ichthyosis
Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. Restricted chest movement can lead to breathing difficulties. These plates fall off over several weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration. The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders characterised by scaly skin. Harlequin-type ichthyosis is caused by mutations in the ''ABCA12'' gene. This gene codes for a protein necessary for Membrane transport protein, transporting lipids out of cells in the outermost layer of skin. The disorder is autosomal recessive and Heredity, inherit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KRT2
Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the ''KRT2A'' gene. Keratin 2A is a type II cytokeratin. It is found largely in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is also known as bullous congenital .... References Further reading * * * * * * * * * * * * * * * * * * * External links * Keratins {{gene-12-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ichthyosis Bullosa Of Siemens
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.Caputo, Ruggero and Tadini, Gianluca''Atlas of Genodermatoses'' Page 19, Published by Taylor & Francis, 2005, Symptoms and signs Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytic hyperkeratosis but is generally milder. Ichthyosis bullosa of Siemens affects only the upper layers of the epidermis whilst epidermolytic hyperkeratosis affects the suprabasal layer which is deeper in the skin.Harper, John; Oranje, Arnold P. and Prose, Neil S.''Textbook of Pediatric Dermatology'' Page 1110, Published by Blackwell Science, 2000, At birth the baby's skin has a r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 10
Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the ''KRT10'' gene. Keratin 10 is a type I keratin. Function Keratin-10 is a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. Interactions Keratin 10 has been shown to interact with AKT1. See also *34βE12 34βE12, often written as 34betaE12 and also known as CK34βE12 and keratin 903 (CK903), is an antibody specific for high molecular weight cytokeratins 1, 5, 10 and 14. It is sometimes, less precisely, referred to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Keratin 1
Keratin 1 is a Type II intermediate filament (IFs) of the intracytoplasmatic cytoskeleton. Is co-expressed with and binds to Keratin 10, a Type I keratin, to form a coiled coil heterotypic keratin chain. Keratin 1 and Keratin 10 are specifically expressed in the spinous and granular layers of the epidermis. In contrast, basal layer keratinocytes express little to no Keratin 1. Mutations in ''KRT1'', the gene encoding Keratin 1, have been associated with variants of the disease bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected. Mutations in ''KRT10'' have also been associated with bullous congenital ichthyosiform erythroderma; however, in patients with KRT10 mutations the palms and soles are spared. This difference is likely due to Keratin 9, rather than Keratin 10, being the major binding partner of Keratin 1 in acral (palm and sole) keratinocytes. Type II cytokeratins are clustered in a region of chromosome 12q12-q13. Interact ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epidermolytic Hyperkeratosis
Epidermolytic ichthyosis (EI), is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. Hyperkeratosis typically develops several months later. Other symptoms include itch, painful fissures, strong body odor, and absence of sweat. Symptoms vary in severity and extent of skin involvement. The two main types are divided into one involving palms and soles and the other without. EI is caused by a genetic mutation. The condition involves the clumping of keratin filaments. The condition is rare, affecting around 1 in 200,000 to 300,000 babies. Signs and symptoms EI is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. Hyperkeratosis typically develops several months later. Other symptoms include itch, painful fissures, body odor, and absence of sweat. Symptoms vary in severity and extent of skin involvement. Complications include infecti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lamellar Ichthyosis
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Presentation Affected babies are born in a collodion membrane – a shiny, waxy-appearing outer layer on the skin. This is shed 10–14 days after birth, revealing the main symptom of the disease: extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to become concentrated around joints in areas such as the groin, the armpits, the inside of the elbow, and the neck. The scales often tile the skin and may resemble fish scales. Collodion baby In medicine, the term collodion baby applies to newborns who appear to have an extra layer of skin (known as a ''collodion membrane'') that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder; as such, it is a syndrome. Appearance and treatment at birth The appearance is often described as a s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CYP4F22
CYP4F22 (cytochrome P450, family 4, subfamily F, polypeptide 22) is a protein that in humans is encoded by the ''CYP4F22'' gene. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. Activity CYP4F22, like other CYP4F proteins, is a Cytochrome P450 omega hydroxylase, i.e. an enzyme that metabolizes fatty acids to their omega hydroxyl derivatives (see Omega oxidation). This hydroxylation may: a) produce a biologically important signaling molecule such as occurs in the metabolism of 20-carbon straight chain polyunsaturated fatty acid, arachidonic acid, to 20-Hydroxyeicosatetraenoic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ALOXE3
Epidermis-type lipoxygenase 3 (ALOXE3 or eLOX3) is a member of the lipoxygenase family of enzymes; in humans, it is encoded by the ''ALOXE3'' gene. This gene is located on chromosome 17 at position 13.1 where it forms a cluster with two other lipoxygenases, ALOX12B and ALOX15B. Among the human lipoxygenases, ALOXE3 is most closely (54% identity) related in amino acid sequence to ALOX12B. ALOXE3, ALOX12B, and ALOX15B are often classified as epidermal lipoxygenases, in distinction to the other three human lipoxygenases (ALOX5, ALOX12, and ALOX15), because they were initially defined as being highly or even exclusively expressed and functioning in skin. The epidermis-type lipoxygenases are now regarded as a distinct subclass within the multigene family of mammalian lipoxygenases with mouse Aloxe3 (also termed e-Lox-3) being the ortholog to human ALOXE3, mouse Alox12b being the ortholog to human ALOX12B (MIM 603741), and mouse Alox8 being the ortholog to human ALOX15B (MIM 603697)[su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ALOX12B
Arachidonate 12-lipoxygenase, 12R type, also known as ALOX12B, 12''R''-LOX, and arachidonate lipoxygenase 3, is a lipoxygenase-type enzyme composed of 701 amino acids and encoded by the ''ALOX12B'' gene. The gene is located on chromosome 17 at position 13.1 where it forms a cluster with two other lipoxygenases, ALOXE3 and ALOX15B. Among the human lipoxygenases, ALOX12B is most closely (54% identity) related in amino acid sequence to ALOXE3 Activity ALOX12B oxygenates arachidonic acid by adding molecular oxygen (O2) in the form of a hydroperoxyl (HO2) residue to its 12th carbon thereby forming 12(''R'')-hydroperoxy-5''Z'',8''Z'',10''E'',14''Z''-icosatetraenoic acid (also termed 12(''R'')-HpETE or 12''R''-HpETE). When formed in cells, 12''R''-HpETE may be quickly reduced to its hydroxyl analog (OH), 12(''R'')-hydroxy-5Z'',8''Z'',10''E'',14''Z''-eicosatetraenoic acid (also termed 12(''R'')-HETE or 12''R''-HETE), by ubiquitous peroxidase-type enzymes. These sequential metabolic re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NIPAL4
Nipa‐Like Domain‐Containing 4, also known as ''NIPAL4'' or ''Ichthyin'', is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains. ''NIPAL4'' codes for the protein magnesium transporter NIPA4, which acts as a transporter. Expression ''NIPAL4'' is mainly expressed in the skin, specifically in the granular layer of the epidermis. Function ''NIPAL4'' codes for a magnesium transporter that can also transport other divalent cations such as Ba2+, Mn2+, Sr2+ and Co2+, though to a much less extent than Mg2+. There is also evidence that ''NIPAL4'' is involved in the synthesis of very long chain fatty acids involved in the epidermal lipid metabolism. Disruptions to this pathway results in impaired skin function, causing the symptoms of ARCI. Pathology Mutations in this gene account for 16% of autosomal recessive congenital ichthyosis (ARCI) cases, making it the 2nd most common gene involved with this disease. Since its first identific ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
