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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. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trait ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectoderm
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 cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Defects In Innate Immunity
A defect is a physical, functional, or aesthetic attribute of a product or service that exhibits that the product or service failed to meet one of the desired specifications. Defect, defects or defected may also refer to: Examples * Angular defect, failure of some angles to add up to the expected amount of 360° or 180°, when such angles in the Euclidean plane would * Birth defect, a condition present at birth * Crystallographic defect, defects in the crystal lattice of solid materials *Latent defect, a fault in a property which could not have been discovered by a reasonably thorough inspection before completion or acquisition. * Product defect, a characteristic of a product which hinders its usability ** Software bug, a failure of computer software to meet requirements * Social defect, a sociological disorder Music * Defected Records, a music label * The Defects, a Northern-Irish punk rock band Other uses * Defect, the action of defection, abandoning allegiance to one countr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Dental Abnormalities Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated abnormalities of the teeth. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with internal malignancy * List of cutaneous conditions caused by mutations in keratins * List of cutaneous conditions caused by problems with junctional proteins * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of inclusion bodies that aid in diagnosis of cutaneous conditions * List of keratins expressed in the human integumentary system * List of radiographic findings associated with cutaneous conditions * List of specialized glands within the human integumentary system * List of target antigens in pemphigoid * List of target antigens in pemphigus Circulating auto-antibodies in the human body can target n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Radiographic Findings Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with internal malignancy * List of cutaneous conditions caused by mutations in keratins * List of cutaneous conditions caused by problems with junctional proteins * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of inclusion bodies that aid in diagnosis of cutaneous conditions Many skin conditions require a skin biopsy for confirmation of the diagnosis. With several of these conditions there are features within the cells contained in the skin biopsy specimen that have elements in their cytoplasm or nucleus that have ... * List of keratins expressed ... [...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 meso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Character Actor
A character actor is a supporting actor who plays unusual, interesting, or eccentric characters.28 April 2013, The New York Acting SchoolTen Best Character Actors of All Time Retrieved 7 August 2014, "..a breed of actor who has the ability to be almost unrecognizable from part to part, and yet play many, many roles convincingly and memorably. .." The term, often contrasted with that of leading actor, is somewhat abstract and open to interpretation. In a literal sense, all actors can be considered character actors since they all play "characters", but the term more commonly refers to an actor who frequently plays a distinctive and important supporting role. Character actors are generally well-known and recognizable by the audience (by appearance if not by name), even if they play different types of roles in different movies. A character actor may play characters who are very different from the actor's off-screen real-life personality, while in another sense a character actor m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Saturn Award
The Saturn Awards are American awards presented annually by the Academy of Science Fiction, Fantasy and Horror Films. The awards were created to honor science fiction, fantasy, and horror in film, but have since grown to reward other films belonging to genre fiction, as well as television and home media releases. The Saturn Awards were created in 1973 and were originally referred to as Golden Scrolls. History The Saturn Awards were devised by Donald A. Reed in 1973, who felt that work in films in the genre of science fiction at that time lacked recognition within the established Hollywood film industry's award system. Initially, the award given was a Golden Scroll certificate. In the late 1970s, the award was changed to be a representation of the planet Saturn, with its ring(s) composed of film. The Saturn Awards are voted upon by members of the presenting Academy. The Academy is a non-profit organization with membership open to the public. Its president and executive produ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Michael Berryman
Michael John Berryman (born September 4, 1948) is an American character actor. Berryman was born with hypohidrotic ectodermal dysplasia, a rare condition characterized by the absence of sweat glands, hair, and fingernails; his unusual physical appearance has allowed Berryman to make a career out of portraying characters in horror movies and B movies. He came to prominence with his roles in '' One Flew Over the Cuckoo's Nest'' in 1975 and '' The Hills Have Eyes'' in 1977. He has appeared in several movies and television shows, including '' Star Trek'' and ''The X-Files''. Personal life Berryman is a strong advocate for environmental protection and lived on a wolf sanctuary for ten years. He is of partial German descent. Berryman's father was a US Naval surgeon and was deployed to the Hiroshima fallout zone in the wake of the atomic bombing. Career Berryman played Pluto in Wes Craven's 1977 horror film '' The Hills Have Eyes'' and the 1985 sequel '' The Hills Have Eyes Part I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Albert Touraine
Albert Touraine (11 November 1883 – 3 May 1961) was a French dermatologist. He studied medicine at the University of Paris as a pupil of Eugène Apert and Émile Achard. In 1912 he received his doctorate with the thesis ''Les anticorps syphilitiques : essais de séro-agglutination de la syphilis''. In 1932 he was named senior physician at the Hôpital Saint-Louis. Hypohidrotic ectodermal dysplasia (or "Christ-Siemens-Touraine syndrome") is named for him. Touraine-Solente-Gole syndrome is also named for him. For eighteen years he was editor of the journal ''Annales de dermatologie et de syphiligraphie''. In 1945 he was elected as a member of the Académie de médecine An academy ( Attic Greek: Ἀκαδήμεια; Koine Greek Ἀκαδημία) is an institution of secondary or tertiary higher learning (and generally also research or honorary membership). The name traces back to Plato's school of philosophy .... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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