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Eclabium
Eclabium means the turning outwards of the lip. Eclabium comes from the Greek word "ek" meaning "out," and the Latin word "labium" meaning "lip." This deformation occurs in most babies born with Harlequin type ichthyosis, caused by genetic defects. Eclabium can severely impact the quality of life. There are ways to predict if a child will have this condition before they are born through genetic testing. For patients who suffer from eclabium due to improper wound healing, there are different treatment options available to restore the lips back to normal or at least to the point where they are not a hazard to the patients quality of life. Periodontitis can also cause eclabium. As eclabium is a symptom, it is treated by addressing its cause. When the underlying disease is treated, the eclabium tends to go away as well. Classification It is commonly classified as a congenital malformation (birth defect) however it can also result from improper healing of a wound. Causes Causes ...
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Congenital Ichthyosiform Erythroderma
Congenital ichthyosiform erythroderma (CIE), also known as nonbullous congenital ichthyosiform erythroderma, is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births. CIE comes under the umbrella term autosomal recessive congenital ichthyosis (ARCI), which include non-syndromic congenital ichthyoses such as harlequin ichthyosis and lamellar ichthyosis. Symptoms and signs Infants are often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, a condition in which the eyelids turn outwards. When the membrane is shed, the skin is red with a generalized white scale. Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin forming scales. Eclabium (eversion of the lips), ectropion and alopecia (hair loss) are more common in CIE than in lamellar ichthyosis (LI). CIE can present very similarly to LI and they of ...
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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 movement of the chest 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, 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 transporting lipids out of cells in the outermost layer of skin. The disorder is autosomal recessive and inherited from parents who are carriers. Diagnosis is often based on appearance at birth and confirmed by genetic testi ...
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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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Isotretinoin
Isotretinoin, also known as 13-''cis''-retinoic acid and sold under the brand name Accutane among others, is a medication primarily used to treat severe acne. It is also used to prevent certain skin cancers (squamous-cell carcinoma), and in the treatment of other cancers. It is used to treat harlequin-type ichthyosis, a usually lethal skin disease, and lamellar ichthyosis. It is a retinoid, meaning it is related to vitamin A, and is found in small quantities naturally in the body. Its isomer, tretinoin, is also an acne drug. The most common adverse effects are dry lips ( cheilitis), dry and fragile skin, and an increased susceptibility to sunburn. Uncommon and rare side effects include muscle aches and pains (myalgias), and headaches. Isotretinoin is known to cause birth defects due to in-utero exposure because of the molecule's close resemblance to retinoic acid, a natural vitamin A derivative that controls normal embryonic development. It is also associated with psychiatri ...
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Tazarotene
Tazarotene, sold under the brand name Tazorac, among others, is a third-generation prescription topical retinoid. It is primarily used for the treatment of plaque psoriasis and acne. Tazarotene is also used as a therapeutic for photoaged and photodamaged skin. Tazarotene is a member of the acetylenic class of retinoids. It is available as a generic medication. Medical uses Tazarotene is most commonly used topically to treat acne vulgaris and psoriasis. Like other topical retinoids, such as tretinoin and adapalene, tazarotene can be combined with benzoyl peroxide or an oral antibiotic, such as clindamycin or dapsone, for the treatment of acne. This results in increased efficacy compared to tazarotene monotherapy. For psoriasis, a combination therapy of tazarotene and a mid- to high-potency corticosteroid is more effective than either treatment alone. Tazarotene can also be used for the treatment of photodamaged skin. It can reduce the clinical and histological signs of photo ...
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Breathing
Breathing (or ventilation) is the process of moving air into and from the lungs to facilitate gas exchange with the internal environment, mostly to flush out carbon dioxide and bring in oxygen. All aerobic creatures need oxygen for cellular respiration, which extracts energy from the reaction of oxygen with molecules derived from food and produces carbon dioxide as a waste product. Breathing, or "external respiration", brings air into the lungs where gas exchange takes place in the alveoli through diffusion. The body's circulatory system transports these gases to and from the cells, where "cellular respiration" takes place. The breathing of all vertebrates with lungs consists of repetitive cycles of inhalation and exhalation through a highly branched system of tubes or airways which lead from the nose to the alveoli. The number of respiratory cycles per minute is the breathing or respiratory rate, and is one of the four primary vital signs of life. Under normal conditions t ...
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True Homozygous Versus Compound Heterozygous
True most commonly refers to truth, the state of being in congruence with fact or reality. True may also refer to: Places * True, West Virginia, an unincorporated community in the United States * True, Wisconsin, a town in the United States * True, a townland in County Tyrone, Northern Ireland People * True (singer) (stylized as TRUE), the stage name of Japanese singer Miho Karasawa * True (surname) * True O'Brien (born 1994), an American model and actress Arts, entertainment, and media Music Albums * ''True'' (Avicii album), 2013 * ''True'' (EP), a 2012 EP by Solange Knowles * ''True'' (L'Arc-en-Ciel album), 1996 * ''True'' (Roy Montgomery and Chris Heaphy album), 1999 * ''True'' (Mika Nakashima album), 2002 * ''True'' (Spandau Ballet album), 1983 * ''True'' (TrinityRoots album), 2001 * ''True'' (TRU album), 1995 Songs * "True" (Brandy song), by Brandy Norwood from ''Human'' (2008) * "True" (Concrete Blonde song), 1987 * "True" (Ryan Cabrera song), 2004 * "True" ...
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Wound Healing
Wound healing refers to a living organism's replacement of destroyed or damaged tissue by newly produced tissue. In undamaged skin, the epidermis (surface, epithelial layer) and dermis (deeper, connective layer) form a protective barrier against the external environment. When the barrier is broken, a regulated sequence of biochemical events is set into motion to repair the damage. This process is divided into predictable phases: blood clotting (hemostasis), inflammation, tissue growth ( cell proliferation), and tissue remodeling (maturation and cell differentiation). Blood clotting may be considered to be part of the inflammation stage instead of a separate stage. The wound healing process is not only complex but fragile, and it is susceptible to interruption or failure leading to the formation of non-healing chronic wounds. Factors that contribute to non-healing chronic wounds are diabetes, venous or arterial disease, infection, and metabolic deficiencies of old age.Enoch, S ...
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Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Ectropion
Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable aspects of newborns exhibiting congenital Harlequin-type ichthyosis, but ectropion can occur due to any weakening of tissue of the lower eyelid. The condition can be repaired surgically. Ectropion is also found in dogs as a genetic disorder in certain breeds. Causes *Congenital *Aging *Scarring *Mechanical *Allergic * Facial nerve palsy *Anti-cancer treatments such as erlotinib, cetuximab, and panitumumab, which block the function of EGFR (the epidermal growth factor receptor). Diagnosis Ectropion can usually be diagnosed with a routine eye exam and physical. The eyelid's muscle tone and tightness can be assessed by pulling gently on the eyelid. Ectropion in dogs Ectropion in dogs usually involves the lower eyelid. Often the condition has no symptoms, but tearing and conjunctivitis may be seen. Breeds associated with ectropion include the Cocker Spaniel, the Saint Bernard, the ...
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Keratinocyte
Keratinocytes are the primary type of Cell (biology), cell found in the epidermis (skin), epidermis, the outermost layer of the skin. In humans, they constitute 90% of epidermal skin cells. Basal cells in the stratum basale, basal layer (''stratum basale'') of the skin are sometimes referred to as basal keratinocytes. Keratinocytes form a barrier against environmental damage by heat, UV radiation, Dehydration, water loss, pathogenic bacteria, fungi, parasites, and viruses. A number of structural proteins, enzymes, lipids, and antimicrobial peptides contribute to maintain the important barrier function of the skin. Keratinocytes differentiate from epidermal stem cells in the lower part of the epidermis and migrate towards the surface, finally becoming corneocytes and eventually be shed off, which happens every 40 to 56 days in humans. Function The primary function of keratinocytes is the formation of a barrier against environmental damage by heat, UV radiation, Dehydration, wat ...
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