CYLD Cutaneous Syndrome
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CYLD Cutaneous Syndrome
CYLD cutaneous syndrome (CCS) is the recently designated term for three rare inherited cutaneous adnexal tumor syndromes: multiple familial trichoepithelioma (MFT1) (also termed epithelioma adenoides cysticum and epithelioma adenoides cysticum of Brooke), Brooke–Spiegler syndrome (BSS), and familial cylindromatosis (FC). Cutaneous adnexal tumors are a large group of skin tumors that consist of tissues that have differentiated (i.e. matured from stem cells) towards one of the four primary adnexal structures found in normal skin: hair follicles, sebaceous sweat glands, apocrine sweat glands, and eccrine sweat glands. CCS tumors are hair follicle tumors. Individuals with the MFT1, BSS, and FC forms of CCS carry a germline (i.e. present in the germ cells which give rise to an individual) mutation in one of their two '' CYLD'' (i.e. CYLD lysine 63 deubiquitinase) genes. These individuals have skin tumors that tend to cluster into MFT1, BSS, and/or FC types that differ form each ...
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CYLD (gene)
The CYLD lysine 63 deubiquitinase gene, also termed the ''CYLD'' gene, CYLD is an evolutionary ancient gene found to be present as far back on the evolutionary scale as in sponges. In humans, this gene is located in band 12.1 on the long (or "q") arm of chromosome 16 and is known to code (i.e. direct the production of) multiple proteins through the process of alternative splicing. The ''CYLD'' gene in known to code for a cytoplasmic protein, termed CYLD lysine 63 deubiquitinase (here termed CYLD protein), which has three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains (areas or the protein controlling critical functions). CYLD protein is a deubiquitinating enzyme, i.e. a protease that removes ubiquitin from certain proteins and thereby regulates these proteins' activities. CYLD protein removes ubiquitin from proteins involved in regulating the NF-κB, Wnt, notch, TGF-β, and JNK cell signaling pathways; these pathways normally act to regulate hair formation, ...
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Nasolabial Fold
The nasolabial folds, commonly known as "smile lines" or "laugh lines", are facial features. They are the two skin folds that run from each side of the nose (human), nose to the corners of the mouth (human), mouth. They are defined by facial structures that support the buccal fat pad. They separate the cheeks from the upper lip. The term derives from Latin language, Latin '':wikt:nasus#Latin, nasus'' for "nose" and '':wikt:labium#Latin, labium'' for "lip". Nasolabial fold is a misnomer, however. The proper anatomical term is melolabial fold, meaning the fold between the cheek and lip. Cosmetology issues With ageing the fold may grow in length and depth. Injectable filler, Dermal fillings may be used to replace lost fats and collagen in this facial area. Facial exercises give effective results in erasing the appearance of nasolabial folds. See also *Epicanthal fold *Nasalis muscle References

Facial features Cosmetics Skin anatomy {{anatomy-stub ...
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Keratocysts
A keratocyst is a type of cutaneous cyst. They appear similar to epidermoid cysts; however, are not limited to a specified location on the body. Keratocyst are most often reported in persons with nevoid basal cell carcinoma syndrome. Pathology Keratocysts have a stratified squamous epithelial wall without sebaceous lobules. See also * 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 Dermal and subcutaneous growths {{Cutaneous-condition-stub ...
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Dermis
The dermis or corium is a layer of skin between the epidermis (with which it makes up the cutis) and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain. It is divided into two layers, the superficial area adjacent to the epidermis called the papillary region and a deep thicker area known as the reticular dermis.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology'' (10th ed.). Saunders. Pages 1, 11–12. . The dermis is tightly connected to the epidermis through a basement membrane. Structural components of the dermis are collagen, elastic fibers, and extrafibrillar matrix.Marks, James G; Miller, Jeffery (2006). ''Lookingbill and Marks' Principles of Dermatology'' (4th ed.). Elsevier Inc. Page 8–9. . It also contains mechanoreceptors that provide the sense of touch and thermoreceptors that provide the sense of heat. In addition, hair follicles, ...
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Stroma (tissue)
Stroma () is the part of a tissue or organ with a structural or connective role. It is made up of all the parts without specific functions of the organ - for example, connective tissue, blood vessels, ducts, etc. The other part, the parenchyma, consists of the cells that perform the function of the tissue or organ. There are multiple ways of classifying tissues: one classification scheme is based on tissue functions and another analyzes their cellular components. Stromal tissue falls into the "functional" class that contributes to the body's support and movement. The cells which make up stroma tissues serve as a matrix in which the other cells are embedded. Stroma is made of various types of stromal cells. Examples of stroma include: * stroma of iris * stroma of cornea * stroma of ovary * stroma of thyroid gland * stroma of thymus * stroma of bone marrow * lymph node stromal cell * multipotent stromal cell (mesenchymal stem cell) Structure Stromal connective tissues are fou ...
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Skin
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have different cellular differentiation, developmental origin, structure and chemical composition. The adjective cutaneous means "of the skin" (from Latin ''cutis'' 'skin'). In mammals, the skin is an organ (anatomy), organ of the integumentary system made up of multiple layers of ectodermal tissue (biology), tissue and guards the underlying muscles, bones, ligaments, and internal organs. Skin of a different nature exists in amphibians, reptiles, and birds. Skin (including cutaneous and subcutaneous tissues) plays crucial roles in formation, structure, and function of extraskeletal apparatus such as horns of bovids (e.g., cattle) and rhinos, cervids' antlers, giraffids' ossicones, armadillos' osteoderm, and os penis/os clitoris. All mammals have som ...
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Lymphocyte
A lymphocyte is a type of white blood cell (leukocyte) in the immune system of most vertebrates. Lymphocytes include natural killer cells (which function in cell-mediated, cytotoxic innate immunity), T cells (for cell-mediated, cytotoxic adaptive immunity), and B cells (for humoral, antibody-driven adaptive immunity). They are the main type of cell found in lymph, which prompted the name "lymphocyte". Lymphocytes make up between 18% and 42% of circulating white blood cells. Types The three major types of lymphocyte are T cells, B cells and natural killer (NK) cells. Lymphocytes can be identified by their large nucleus. T cells and B cells T cells (thymus cells) and B cells ( bone marrow- or bursa-derived cells) are the major cellular components of the adaptive immune response. T cells are involved in cell-mediated immunity, whereas B cells are primarily responsible for humoral immunity (relating to antibodies). The function of T cells and B cells is to recognize sp ...
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Basement Membrane
The basement membrane is a thin, pliable sheet-like type of extracellular matrix that provides cell and tissue support and acts as a platform for complex signalling. The basement membrane sits between Epithelium, epithelial tissues including mesothelium and endothelium, and the underlying connective tissue. Structure As seen with the electron microscope, the basement membrane is composed of two layers, the basal lamina and the reticular lamina. The underlying connective tissue attaches to the basal lamina with collagen VII anchoring fibrils and fibrillin microfibrils. The basal lamina layer can further be subdivided into two layers based on their visual appearance in electron microscopy. The lighter-colored layer closer to the epithelium is called the lamina lucida, while the denser-colored layer closer to the connective tissue is called the lamina densa. The Electron microscope, electron-dense lamina densa layer is about 30–70 nanometers thick and consists of an underlying ...
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Epidermis
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and hypodermis. The epidermis layer provides a barrier to infection from environmental pathogens and regulates the amount of water released from the body into the atmosphere through transepidermal water loss. The epidermis is composed of multiple layers of flattened cells that overlie a base layer (stratum basale) composed of columnar cells arranged perpendicularly. The layers of cells develop from stem cells in the basal layer. The human epidermis is a familiar example of epithelium, particularly a stratified squamous epithelium. The word epidermis is derived through Latin , itself and . Something related to or part of the epidermis is termed epidermal. Structure Cellular components The epidermis primarily consists of keratinocytes ( proliferating basal and differentiated suprabasal), which comprise 90% of its cells, but also contains melanocytes, Langerhans ...
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Stratum Basale
The ''stratum basale'' (basal layer, sometimes referred to as ''stratum germinativum'') is the deepest layer of the five layers of the epidermis, the external covering of skin in mammals. The ''stratum basale'' is a single layer of columnar or cuboidal basal cells. The cells are attached to each other and to the overlying stratum spinosum cells by desmosomes and hemidesmosomes. The nucleus is large, ovoid and occupies most of the cell. Some basal cells can act like stem cells with the ability to divide and produce new cells, and these are sometimes called basal keratinocyte stem cells. Others serve to anchor the epidermis glabrous skin (hairless), and hyper-proliferative epidermis (from a skin disease).McGrath, J.A.; Eady, R.A.; Pope, F.M. (2004). ''Rook's Textbook of Dermatology'' (Seventh Edition). Blackwell Publishing. Pages 3.7. . They divide to form the keratinocytes of the stratum spinosum, which migrate superficially. Other types of cells found within the ''stratum bas ...
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Dermis
The dermis or corium is a layer of skin between the epidermis (with which it makes up the cutis) and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain. It is divided into two layers, the superficial area adjacent to the epidermis called the papillary region and a deep thicker area known as the reticular dermis.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology'' (10th ed.). Saunders. Pages 1, 11–12. . The dermis is tightly connected to the epidermis through a basement membrane. Structural components of the dermis are collagen, elastic fibers, and extrafibrillar matrix.Marks, James G; Miller, Jeffery (2006). ''Lookingbill and Marks' Principles of Dermatology'' (4th ed.). Elsevier Inc. Page 8–9. . It also contains mechanoreceptors that provide the sense of touch and thermoreceptors that provide the sense of heat. In addition, hair follicles, ...
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Histopathological
Histopathology (compound of three Greek words: ''histos'' "tissue", πάθος ''pathos'' "suffering", and -λογία ''-logia'' "study of") refers to the microscopic examination of tissue in order to study the manifestations of disease. Specifically, in clinical medicine, histopathology refers to the examination of a biopsy or surgical specimen by a pathologist, after the specimen has been processed and histological sections have been placed onto glass slides. In contrast, cytopathology examines free cells or tissue micro-fragments (as "cell blocks"). Collection of tissues Histopathological examination of tissues starts with surgery, biopsy, or autopsy. The tissue is removed from the body or plant, and then, often following expert dissection in the fresh state, placed in a fixative which stabilizes the tissues to prevent decay. The most common fixative is 10% neutral buffered formalin (corresponding to 3.7% w/v formaldehyde in neutral buffered water, such as phosphate buff ...
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