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Hypotrichosis–lymphedema–telangiectasia Syndrome
Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema (swelling of tissue due to malformation or malfunction of lymphatics), the presence of telegiectasias (small dilated vessels near the surface of the skin), and hypotrichosis or alopecia (hair loss). Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns. It is associated with a rare mutation of the transcription factor gene ''SOX18''. See also * HOPP 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. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX18
Transcription factor SOX-18 is a protein that in humans is encoded by the ''SOX18'' gene. Function This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia (HLTS). An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS). Interactions SOX18 has been shown to interact with: MEF2C RBPJ See also * SOX genes ''SOX'' genes ('' SRY''-related HMG-box genes) encode a family of transcription factors that bind ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HOPP Syndrome
Hopp is a surname. Notable people with the surname include: * Ceci Hopp (born c. 1963), American track and field athlete * Dietmar Hopp (born 1940), German entrepreneur * Doris Hopp (1930–1998), Swedish brothel madam * Hanns Hopp (1890–1971), German architect * Johnny Hopp (1916–2003), American baseball player * Karl-Heinz Hopp (1936–2007), German rower * Kristof Hopp (born 1978), German badminton player * Lisa Hopp (born 1956), American academic * Max Hopp Max Hopp (born 20 August 1996) is a German professional darts player who competes in Professional Darts Corporation (PDC) events. Career Hopp reached the final of the 2011 WDF World Cup boys' singles, and won the boys' singles event at the 2012 ... (born 1996), German darts player * Odd Hopp (1913-2001), Norwegian Scout leader * Zinken Hopp (1905–1987), Norwegian writer See also * Hoppe (other) * Hopps (surname) {{surname, Hopp ... [...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] |
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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