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Epidermal Nevus
Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon's syndrome"Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .) is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . However, since the syndrome's first description, a broader concept for the "epidermal nevus" syndrome has been proposed, with at least six types being described:Happle, R. "Epidermal nevus syndrome." ''Semin Dermatol''. 1995;14:111. :* Schimmelpenning syndrome :* Nevus comedonicus syndrome :* Pigmented hairy epidermal nevus syndrome :* Proteus syndrome :* CHILD syndrome :* Phakomatosis pigmentokeratotica See also * Epidermis * List of cutane ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nevi
Nevus (plural nevi) is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. The term originates from ''nævus'', which is Latin for "birthmark"; however, a nevus can be either congenital (present at birth) or acquired. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific types of nevi from one another. Classification The term ''nevus'' is applied to a number of conditions caused by neoplasias and hyperplasias of melanocytes, as well as a number of pigmentation disorders, both hypermelanotic (containing increased melanin, the pigment responsible for skin color) and hypomelanotic (containing decreased melanin). Suspicious skin moles which are multi-colored or pink may be a finding in skin cancer. Increased melanin Usually acquired * Melanocytic nevus ** Melanocytic nevi can be categorized based on the location of melanocytic cells *** Junctional: epidermis * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Central Nervous System
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain and spinal cord. The CNS is so named because the brain integrates the received information and coordinates and influences the activity of all parts of the bodies of bilaterally symmetric and triploblastic animals—that is, all multicellular animals except sponges and diploblasts. It is a structure composed of nervous tissue positioned along the rostral (nose end) to caudal (tail end) axis of the body and may have an enlarged section at the rostral end which is a brain. Only arthropods, cephalopods and vertebrates have a true brain (precursor structures exist in onychophorans, gastropods and lancelets). The rest of this article exclusively discusses the vertebrate central nervous system, which is radically distinct from all other animals. Overview In vertebrates, the brain and spinal cord are both enclosed in the meninges. The meninges provide a barrier to chemicals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiovascular System
The blood circulatory system is a system of organs that includes the heart, blood vessels, and blood which is circulated throughout the entire body of a human or other vertebrate. It includes the cardiovascular system, or vascular system, that consists of the heart and blood vessels (from Greek ''kardia'' meaning ''heart'', and from Latin ''vascula'' meaning ''vessels''). The circulatory system has two divisions, a systemic circulation or circuit, and a pulmonary circulation or circuit. Some sources use the terms ''cardiovascular system'' and ''vascular system'' interchangeably with the ''circulatory system''. The network of blood vessels are the great vessels of the heart including large elastic arteries, and large veins; other arteries, smaller arterioles, capillaries that join with venules (small veins), and other veins. The circulatory system is closed in vertebrates, which means that the blood never leaves the network of blood vessels. Some invertebrates such as ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genitourinary System
The genitourinary system, or urogenital system, are the organs of the reproductive system and the urinary system. These are grouped together because of their proximity to each other, their common embryological origin and the use of common pathways, like the male urethra. Also, because of their proximity, the systems are sometimes imaged together. The term "apparatus urogenitalis" was used in ''Nomina Anatomica'' (under Splanchnologia) but is not used in the current '' Terminologia Anatomica''. Development The urinary and reproductive organs are developed from the intermediate mesoderm. The permanent organs of the adult are preceded by a set of structures that are purely embryonic and that, with the exception of the ducts, disappear almost entirely before the end of fetal life. These embryonic structures are on either side: the pronephros, the mesonephros and the metanephros of the kidney, and the Wolffian and Müllerian ducts of the sex organ. The pronephros disappear ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schimmelpenning Syndrome
Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and genitourinary system. Synonyms include: " Linear nevus sebaceous syndrome (LNSS)", "Schimmelpenning-Feuerstein-Mims syndrome", "Feuerstein-Mims syndrome", "sebaceous nevus syndrome", "Solomon syndrome", and "Jadassohn's nevus phakomatosis". "Nevus" is sometimes spelled "naevus" and "sebaceous" may also be spelled "sebaceus". "Epidermal nevus syndrome" is sometimes used as a synonym, but more often as a broader term referring to Schimmelpenning syndrome in addition to nevus comedonicus syndrome, CHILD syndrome, Becker's nevus syndrome, and phakomatosis pigmentokeratotica. The classic Schimmelpenning syndrome diagnosis comprises a triad of sebaceous nevi, seizures, and mental retardation. The condition was first reported by Gustav ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nevus Comedonicus Syndrome
Nevus comedonicus syndrome is a skin condition characterized by a nevus comedonicus associated with cataracts, scoliosis, and neurologic abnormalities.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . See also * Epidermal nevus syndrome * Cutaneous conditions A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ... References External links Epidermal nevi, neoplasms, and cysts {{Epidermal-growth-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pigmented Hairy Epidermal Nevus Syndrome
Pigmented hairy epidermal nevus syndrome is a cutaneous condition characterized by a Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . See also * Epidermal nevus syndrome * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ... * List of cutaneous conditions References {{Epidermal-growth-stub Epidermal nevi, neoplasms, and cysts Syndromes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteus Syndrome
Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition.Woman's 11-stone legs may be lost at BBC As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHILD Syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement. The acronym was introduced in 1980. Symptoms and signs The acronym CHILD stands for the symptoms of the syndrome: * CH = Congenital Hemidysplasia—One side of the body, most of the time the right side, is poorly developed. The right ribs, neck, vertebrae, etc. may be underdeveloped and the internal organs may be affected. * I - Ichthyosiform Erythroderma—At birth or shortly after birth, there are red, inflamed patches (erythroderma), and flaky scales (ichthyosis) on the side of the body that is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phakomatosis Pigmentokeratotica
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is an unusual variant of epidermal naevus syndrome. It was first described by Happle ''et al''. It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus. See also * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ... * Li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epidermis (skin)
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, Langerha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
