|
Terminal Osseous Dysplasia With Pigmentary Defects
Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules. It has been associated with ''FLNA''. See also * Corneodermatosseous syndrome * Osseous choristoma of the tongue * 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 t ... References External links Genodermatoses {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macule
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause (skin conditions result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FLNA
Filamin A, alpha (FLNA) is a protein that in humans is encoded by the ''FLNA'' gene. Function Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed filamin that regulates the reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and secondary messengers. At least 31 disease-causing mutations in this gene have been discovered. Structure The protein structure includes an actin binding N terminal domain, 24 internal repeats and 2 hinge regions. Interactions Filamin has been shown to interact with: * BRCA2, * CD29 * CASR, * FBLIM1, * FILIP1, * FLNB, * NPHP1, * RALA, * SH2B3, * TRIO, and * VHL. RNA editi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corneodermatosseous Syndrome
Corneodermatosseous syndrome is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits. See also * Palmoplantar keratoderma * Keratoderma * Skin lesion * Terminal osseous dysplasia with pigmentary defects * 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 t ... References External links Palmoplantar keratodermas Syndromes affecting the cornea Syndromes with short stature Syndromes with dysmelia {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osseous Choristoma Of The Tongue
Tongue diseases can be congenital or acquired, and are multiple in number. Considered according to a surgical sieve, some example conditions which can involve the tongue are discussed below. Glossitis is a general term for tongue inflammation, which can have various etiology, etiologies, e.g. infection. Congenital Examples of congenital disorders which affect the tongue include: * Aglossia - complete absence of the tongue at birth * Ankyloglossia (tongue tie) - where the lingual frenum tethers the tongue to the floor of the mouth. If it interferes with oral hygiene and feeding, frenectomy may be indicated. * Hypoglossia - congenitally short tongue * Microglossia * Macroglossia - an abnormally large tongue, seen in some disorders such as Down syndrome (although macroglossia can be an acquired condition as well). * Hamartomata - for example Leiomyomatous hamartoma * Glossoptosis * Choristomata - For example, osseous choristoma of the tongue, a very rare condition characterized by a n ... [...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] |
