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Ectodermal Dysplasia
Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive. Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body." Presentation Hair Individuals affected by an ED syndrome frequently have abnormalities of the hair follicles. Scalp and body h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes
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 sy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Presentation Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. An inability to sweat can lead to a dangerously high body temperature (hyperthermia) particularly in hot weather. In some cases, hyperthermia can cause life-threatening medical problems. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-coloured, brittle, and slow-growing. This ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pachyonychia Congenita
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Signs and symptoms Pachyonychia congenita is characterized by a clinical triad present in 97% of people with PC by the time they turn 10 years old: # Thickened toenails # Plantar keratoderma # Plantar pain that may require some patients to use wheelchairs, canes, crutches, and pain medications due to its severity Other signs and symptoms found in PC include: * Thickened fingernails * Palmar keratoderma * Oral leukokeratosis * Cysts, including steatocystoma multiplex * Follicular hyperkeratosis * Natal or prenatal teeth * Blisters * Excessive sweating of the palms and soles * Excess earwax production * Ear pain * Hoarseness * Angular chelitis * Fingernail and toenail infections Cause The conditi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KRT14
Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined. Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the ''KRT14'' gene. Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton 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 comp ... of epithelial cells. Pathology Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations. See also * 34βE12 (keratin 903) References Further reading * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/UW ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatopathia Pigmentosa Reticularis
Dermatopathia pigmentosa reticularis (DPR) is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalizereticulate hyperpigmentation noncicatricial alopecia, and onychodystrophy.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . DPR is a non life-threatening disease that largely affects the skin, hair, and nails. It has also been identified as a keratin disorder. Historically, as of 1992, only 10 cases had been described in world literature; however, due to recent advances in genetic analysis, five additional families studied in 2006 have been added to the short list of confirmed cases. Signs and Symptoms (Presentation) Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints. It is also characterized by a widespread, early-onset reticulate hyp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GJB6
Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the ''GJB6'' gene. Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. Mutations in this gene are associated with Clouston syndrome (i.e., hydrotic ectodermal dysplasia). Function The connexin gene family codes for the protein subunits of gap junction channels that mediate direct diffusion of ions and metabolites between the cytoplasm of adjacent cells. Connexins span the plasma membrane 4 times, with amino- and carboxy-terminal regions facing the cytoplasm. Connexin genes are expressed in a cell type-specific manner with overlapping specificity. The gap junction channels have unique properties depending on the type of connexins constituting the channel. upplied by OMIMref name="entrez"/> Connexin 30 is prevalent in the two disti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clouston's Hidrotic Ectodermal Dysplasia
Clouston's hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Presentation Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this entry) is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PKP1
Plakophilin-1 is a protein that in humans is encoded by the ''PKP1'' gene. Function This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Interactions PKP1 has been shown to interact with Desmoplakin Desmoplakin is a protein in humans that is encoded by the ''DSP'' gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contac .... See also * Skin fragility syndrome References Further reading * * * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectodermal Dysplasia With Skin Fragility
The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm (the middle layer) and endoderm (the innermost layer). It emerges and originates from the outer layer of germ cells. The word ectoderm comes from the Greek ''ektos'' meaning "outside", and ''derma'' meaning "skin".Gilbert, Scott F. Developmental Biology. 9th ed. Sunderland, MA: Sinauer Associates, 2010: 333-370. Print. Generally speaking, the ectoderm differentiates to form epithelial and neural tissues (spinal cord, peripheral nerves and brain). This includes the skin, linings of the mouth, anus, nostrils, sweat glands, hair and nails, and tooth enamel. Other types of epithelium are derived from the endoderm. In vertebrate embryos, the ectoderm can be divided into two parts: the dorsal surface ectoderm also known as the external ectoderm, and the neural plate, which invaginates to form the neural tube and neural crest. The su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PVRL1
Poliovirus receptor-related 1 (PVRL1), also known as nectin-1 and CD111 (formerly herpesvirus entry mediator C, HVEC) is a human protein of the immunoglobulin superfamily (IgSF), also considered a member of the nectins. It is a membrane protein with three extracellular immunoglobulin domains, a single transmembrane helix and a cytoplasmic tail. The protein can mediate Ca2+-independent cellular adhesion further characterizing it as IgSF cell adhesion molecule (IgSF CAM). Function PVRL1 is an adhesion molecule found in a wide range of tissues where it localizes in various junctions such as the adherens junction of epithelial tissue or the chemical synapse of neurons. The cytoplasmic tail of PVRL1 can bind the protein afadin which is a scaffolding protein that binds actin. In the chemical synapse PVRL1 interacts with PVRL3 (nectin-3) and both proteins can be found in neuronal tissue already in early stages of brain development as well as in aging brains. The two proteins hav ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Margarita Island Ectodermal Dysplasia
A margarita is a cocktail consisting of Tequila, triple sec, and lime juice often served with salt on the rim of the glass. The drink is served shaken with ice (on the rocks), blended with ice (frozen margarita), or without ice (straight up). The drink is generally served in a stepped-diameter variant of a cocktail glass or champagne coupe called a margarita glass. Origin The history of the margarita is one of folklore due to its numerous origin stories. According to cocktail historian David Wondrich, the margarita is related to the brandy daisy (''margarita'' is Spanish for "daisy"), remade with tequila instead of brandy. (Daisies are a family of cocktails that include a base spirit, liqueur, and citrus. A sidecar and gin daisy are other related drinks.) There is an account from 1936 of Iowa newspaper editor James Graham finding such a cocktail in Tijuana, years before any of the other margarita "creation myths". The '' Cafe Royal Cocktail Book'', published in the UK in 1937 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
