Hay–Wells Syndrome
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Hay–Wells Syndrome
Hay–Wells syndrome (also known as AEC syndrome; see ''Naming'') is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails. Genetics Hay–Wells syndrome is autosomal dominant, caused by a missense mutation in the Sterile alpha motif (SAM) of the ''TP73L'' (p63) gene which encodes for a protein-protein interaction domain. It is a very rare disorder. Hay–Wells syndrome is an autosomal dominant pattern of inheritance. The syndrome is thought to arise from a missense mutation in a gene pivotal for the proper development of craniofacial structures and extremities, as well as skin differentiation. Specifically, mutations within the Tumor Protein 63 gene have been implicated in Hay–Wells syndrome. Residing on the long-arm of chromosome 3, the Tumor Protein 63 (TP63) gene is critical for proper development and homeostasis of stratified epithelia. In Hay–Wells syndrome, a ...
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Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the decedent, deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid ( ...
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Hypohidrosis
Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. In contrast with hyp''er''hidrosis, which is a socially troubling yet often benign condition, the consequences of untreated hypohidrosis include hyperthermia, heat stroke and death. An extreme case of hypohidrosis in which there is a complete absence of sweating and the skin is dry is termed anhidrosis. Causes Diagnosis Sweat is readily visualized by a topical indicator such as iodinated starch ( Minor test) or sodium alizarin sulphonate, both of which undergo a dramatic colour change when moistened by sweat. A thermoregulatory sweat test can evaluate the body’s response to a thermal stimulus by inducing sweating through a hot box ⁄ room, thermal blanket or exercise. Failure of the topical indicator to undergo a colour change during thermoregulatory sweat testing indicates hypohidrosis, and further tests may be required to localize the lesion. Magnetic resonance i ...
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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 ...
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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 ...
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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 ...
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Ankyloblepharon Filiforme Adnatum
Ankyloblepharon is defined as the adhesion of the edges of the upper eyelid with the lower eyelid. Ankyloblepharon must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, but the eyelid margins are normal. Another condition similar to ankyloblepharon is symblepharon, in which the palpebral conjunctiva is attached to the bulbar conjunctiva. Recognition of ankyloblepharon necessitates systemic examination to detect associated abnormalities such as genitourinary and cardiac abnormalities and syndactyly. Presentation Complication The main complication of congenital ankyloblepharon is amblyopia. Timely separation of the eyelids is very important to avoid the development of occlusion amblyopia. Etiology Ankyloblepharon may be congenital or acquired. The most common type is congenital. Clinically, ankyloblepharon may be complete, partial, or interrupted. Complete ankyloblepharon is when the eyelids are fused throughout the lid mar ...
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Eyelid
An eyelid is a thin fold of skin that covers and protects an eye. The levator palpebrae superioris muscle retracts the eyelid, exposing the cornea to the outside, giving vision. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes along the eyelid margin, which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. "Palpebral" (and "blepharal") means relating to the eyelids. Its key function is to regularly spread the tears and other secretions on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. The appearance of the human upper eyelid often varies between different populations. The prevalence of an epicanthic fold covering the inner corner of the eye account for the majority of East Asian and Southeast Asian populations, and is also found i ...
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Cleft Lip
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ...
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Cleft Palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ...
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Scalp
The scalp is the anatomical area bordered by the human face at the front, and by the neck at the sides and back. Structure The scalp is usually described as having five layers, which can conveniently be remembered as a mnemonic: * S: The skin on the head from which head hair grows. It contains numerous sebaceous glands and hair follicles. * C: Connective tissue. A dense subcutaneous layer of fat and fibrous tissue that lies beneath the skin, containing the nerves and vessels of the scalp. * A: The aponeurosis called epicranial aponeurosis (or galea aponeurotica) is the next layer. It is a tough layer of dense fibrous tissue which runs from the frontalis muscle anteriorly to the occipitalis posteriorly. * L: The loose areolar connective tissue layer provides an easy plane of separation between the upper three layers and the pericranium. In scalping the scalp is torn off through this layer. It also provides a plane of access in craniofacial surgery and neurosurgery. This layer i ...
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Eyelash
An eyelash (also called lash) (Latin: ''Cilia'') is one of the hairs that grows at the edge of the eyelids. It grows in one layer on the edge of the upper and lower eyelids. Eyelashes protect the eye from debris, dust, and small particles and perform some of the same functions as whiskers do on a cat or a mouse in the sense that they are sensitive to being touched, thus providing a warning that an object (such as an insect) is near the eye (which then closes reflexively). The Ancient Greek word for eyelash is βλέφαρον (transliterated as blepharon), which is seen as a root in biological terms like ''Blephara''. Structure Development The eyelashes of the human embryo develop from the ectoderm between the 22nd and 26th week of pregnancy. Natural eyelashes do not grow beyond a certain length, and fall off by themselves without any need for trimming. Eyelashes take about seven to eight weeks to grow back if pulled out, but constant pulling may lead to permanent damage. Their ...
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