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Laryngo-onycho-cutaneous Syndrome
Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion. It is characterized by abnormalities in the larynx, nails (" onycho-"), and skin ("cutaneous"). The disorder is only found in Punjabi Muslims and only a few cases have been reported. It was characterized by Pakistani dermatologist Syed Ghulam Shabbir (1923–2002) in 1986. It may be associated with ''LAMA3''. See also * Watson syndrome * List of cutaneous conditions References External links Laryngo-onycho-cutaneous syndromeon MedlinePlus MedlinePlus is an online information service produced by the United States National Library of Medicine. The service provides curated consumer health information in English and Spanish with select content in additional languages. The site brings t ... Genodermatoses Syndromes affecting the skin {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epithelial
Epithelium or epithelial tissue is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. It is a thin, continuous, protective layer of compactly packed cells with a little intercellular matrix. Epithelial tissues line the outer surfaces of organs and blood vessels throughout the body, as well as the inner surfaces of cavities in many internal organs. An example is the epidermis, the outermost layer of the skin. There are three principal shapes of epithelial cell: squamous (scaly), columnar, and cuboidal. These can be arranged in a singular layer of cells as simple epithelium, either squamous, columnar, or cuboidal, or in layers of two or more cells deep as stratified (layered), or ''compound'', either squamous, columnar or cuboidal. In some tissues, a layer of columnar cells may appear to be stratified due to the placement of the nuclei. This sort of tissue is called pseudostratified. All glands are made up of epitheli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Larynx
The larynx (), commonly called the voice box, is an organ in the top of the neck involved in breathing, producing sound and protecting the trachea against food aspiration. The opening of larynx into pharynx known as the laryngeal inlet is about 4–5 centimeters in diameter. The larynx houses the vocal cords, and manipulates pitch and volume, which is essential for phonation. It is situated just below where the tract of the pharynx splits into the trachea and the esophagus. The word ʻlarynxʼ (plural ʻlaryngesʼ) comes from the Ancient Greek word ''lárunx'' ʻlarynx, gullet, throat.ʼ Structure The triangle-shaped larynx consists largely of cartilages that are attached to one another, and to surrounding structures, by muscles or by fibrous and elastic tissue components. The larynx is lined by a ciliated columnar epithelium except for the vocal folds. The cavity of the larynx extends from its triangle-shaped inlet, to the epiglottis, and to the circular outlet at the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nail (anatomy)
A nail is a claw-like plate found at the tip of the Finger, fingers and Toe, toes on most primates. Nails correspond to the claws found in other animals. Fingernails and toenails are made of a tough protective protein called alpha-keratin, which is a polymer. Alpha-keratin is found in the hooves, claws, and horns of vertebrates. Structure The nail consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. Parts of the nail The matrix, sometimes called the ''matrix unguis'', keratogenous membrane, nail matrix, or onychostroma, is the active Tissue (biology), tissue (or Germ layer, germinal Matrix (biology), matrix) that generates cells, which harden as they move outward from the nail root to the nail plate. It is the part of the nail bed that is beneath the nail and contains nerves, lymph and blood vessels. The matrix produces cells that become the nail plate. The width and thickness of the nail plate is determined by the size, length, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Punjabi Muslims
Punjabi Muslims ( pa, ) are adherents of Islam who identify linguistically, culturally, and genealogically as Punjabis. Primarily geographically native to the Punjab province of Pakistan today, many have ancestry in the entire Punjab region, split between India and Pakistan in the contemporary era. Forming the majority of the Punjabi ethnicity in the greater Punjab region (overall in the South Asia), Punjabi Muslims speak or identify the Punjabi language (under a Perso-Arabic script known as Shahmukhi) as a mother tongue. With a population of more than 90 million, they are the largest ethnic group in Pakistan and the world's third-largest Islam-adhering ethnicity after Arabs and Bengalis. The majority of Punjabi Muslims are adherents of Sunni Islam, while a minority adhere to Shia Islam. History Early Period At the advent of Islam, Punjab was part of Taank Kingdom. According to local traditions, Baba Ratan Hindi, who was a trader from Bhatinda, Punjab, was one of the Sa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LAMA3
Laminin subunit alpha-3 is a protein that in humans is encoded by the ''LAMA3'' gene. Function Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 chain of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Alternatively spliced transcript variants encoding different isoforms have been identified. Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Clinical significance Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. It may be associated with Laryngoonychocutaneous syndrome. Interactions Laminin, alpha 3 has been shown to interact with SDC2 Syndecan-2 is a protein that in humans is encoded by the ''S ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Watson Syndrome
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to ''NF1'', the same gene associated with neurofibromatosis type 1. See also * Westerhof syndrome * 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 Rare syndromes {{Genodermatoses-stub ... [...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] |
MedlinePlus
MedlinePlus is an online information service produced by the United States National Library of Medicine. The service provides curated consumer health information in English and Spanish with select content in additional languages. The site brings together information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), other U.S. government agencies, and health-related organizations. There is also a site optimized for display on mobile devices, in both English and Spanish. In 2015, about 400 million people from around the world used MedlinePlus. The service is funded by the NLM and is free to users. MedlinePlus provides encyclopedic information on health and drug issues, and provides a directory of medical services. MedlinePlus Connect links patients or providers in electronic health record (EHR) systems to related MedlinePlus information on conditions or medications. PubMed Health was another NLM site that offered consumer health information, in ... [...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] |
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