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Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification. According to the Progressive Osseous Heteroplasia Association: It is associated with '' GNAS''. A telltale symptom of POH is osteoma cutis under the skin of a newborn. It was discovered in 1994 by physician Frederick Kaplan. Diagnosis Patients with POH have a distinctly different manifestation of symptoms than those with fibrodysplasia ossificans progressiva (FOP), though heterotopic ossification appears in both diseases. They lack the congenital abnormality of the big toe that is a diagnostic feature for FOP. People with POH also have ossification of the skin during infancy, which does not occur in FOP. Also, the pattern of ossification differs in POH, spreading in an intramembranous fashion rather than endochondral. See also * Fibrodysplasia ossificans progressiva * Punctate porokeratosis * List of cutaneous conditions * Pseudopseudohypoparathyroidism ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GNAS Complex Locus
GNAS complex locus is a gene locus in humans. Its main product is the heterotrimeric G-protein alpha subunit Gs-α, a key component of G protein-coupled receptor-regulated adenylyl cyclase signal transduction pathways. GNAS stands for Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide. Gene This gene locus has a highly complex imprinted expression pattern. It gives rise to maternally-, paternally- and biallelically-expressed transcripts that are derived from four alternative promoters with distinct 5' exons. Some transcripts contain a differentially methylated region (DMR) within their 5' exons; such DMRs are commonly found in imprinted genes and correlate with transcript expression. An antisense transcript also exists, and this antisense transcript and one of the sense transcripts are paternally expressed, produce non-coding RNAs and may regulate imprinting in this region. In addition, one of the transcripts contains a second frame-shifted open rea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoma Cutis
Osteoma cutis is a cutaneous condition characterized by the presence of bone within the skin in the absence of a preexisting or associated lesion. See also * Calcinosis cutis * Skin lesion * 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 Skin conditions resulting from errors in metabolism {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Pennsylvania Health System
The University of Pennsylvania Health System (UPHS) is a major multi-hospital health system headquartered in Philadelphia, Pennsylvania. UPHS and the Perelman School of Medicine at the University of Pennsylvania together comprise Penn Medicine, a clinical and research entity of the University of Pennsylvania. UPHS hospitals include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Pennsylvania Hospital, Chester County Hospital, Lancaster General Hospital, and Princeton Medical Center. The UPHS is home to the first hospital in the United States, the Pennsylvania Hospital. History The Chester County Hospital and Health System joined UPHS in 2013. Two years later, Lancaster General Health (LG Health) joined the UPHS family. Princeton Health officially merged into UPHS in January 2018. Phoenixville Hospital in Phoenixville, Pennsylvania, was previously part of the UPHS network but was sold to Community Health Systems Community Health Systems (CH ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frederick Kaplan
Frederick S. Kaplan is an American medical doctor specializing in research of musculoskeletal disorders such as fibrodysplasia ossificans progressiva (FOP). Education Frederick Kaplan received a bachelor's degree from Johns Hopkins University in 1972. He also obtained his Doctor of Medicine (MD) from Johns Hopkins University, graduating in 1976. FOP research In the mid 1980s, Kaplan met David Romanoff, the medical director of the Inglis House—a residential care facility for adults with disabilities. Two residents of the facility were diagnosed with fibrodysplasia ossificans progressiva (FOP), a very rare medical condition in which the soft tissue of the body ossifies, or turns to bone, over time. Romanoff was "grappling" with caring for the patients, and asked Kaplan if he would like to meet them, which he did. This was his first encounter with the disease beyond reading about it. In 1988, Kaplan met immunologist and geneticist Michael Zasloff; Zasloff introduced him to a p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (; FOP; also called Münchmeyer disease and formerly called myositis ossificans progressiva or Stoneman disease) is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue. It is the only known medical condition where one organ system changes into another. It is a severe, disabling disorder with no current cure or treatment. FOP is caused by a mutation of the gene ACVR1. The mutation affects the body's repair mechanism, causing fibrous tissue including muscle, tendons, and ligaments to become ossified, either spontaneously or when damaged as the result of trauma. In many cases, otherwise minor injuries can cause joints to become permanently fused as new bone forms, replacing the damaged muscle tissue. This new bone formation (known as "heterotopic ossification") eventually forms a secondary skeleton and progressively restricts the patient's ability to move. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heterotopic Ossification
Heterotopic ossification (HO) is the process by which bone tissue forms outside of the skeleton in muscles and soft tissue. Symptoms In traumatic heterotopic ossification (traumatic myositis ossificans), the patient may complain of a warm, tender, firm swelling in a muscle and decreased range of motion in the joint served by the muscle involved. There is often a history of a blow or other trauma to the area a few weeks to a few months earlier. Patients with traumatic neurological injuries, severe neurologic disorders or severe burns who develop heterotopic ossification experience limitation of motion in the areas affected. Causes Heterotopic ossification of varying severity can be caused by surgery or trauma to the hips and legs. About every third patient who has total hip arthroplasty (joint replacement) or a severe fracture of the long bones of the lower leg will develop heterotopic ossification, but is uncommonly symptomatic. Between 50% and 90% of patients who developed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endochondral Ossification
Endochondral ossification is one of the two essential processes during fetal development of the mammalian skeletal system by which bone tissue is produced. Unlike intramembranous ossification, the other process by which bone tissue is produced, cartilage is present during endochondral ossification. Endochondral ossification is also an essential process during the rudimentary formation of long bones, the growth of the length of long bones, and the natural healing of bone fractures. Growth of the cartilage model The cartilage model will grow in length by continuous cell division of chondrocytes, which is accompanied by further secretion of extracellular matrix. This is called interstitial growth. The process of appositional growth occurs when the cartilage model also grows in thickness due to the addition of more extracellular matrix on the peripheral cartilage surface, which is accompanied by new chondroblasts that develop from the perichondrium. Primary center of ossification ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva (; FOP; also called Münchmeyer disease and formerly called myositis ossificans progressiva or Stoneman disease) is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue. It is the only known medical condition where one organ system changes into another. It is a severe, disabling disorder with no current cure or treatment. FOP is caused by a mutation of the gene ACVR1. The mutation affects the body's repair mechanism, causing fibrous tissue including muscle, tendons, and ligaments to become ossified, either spontaneously or when damaged as the result of trauma. In many cases, otherwise minor injuries can cause joints to become permanently fused as new bone forms, replacing the damaged muscle tissue. This new bone formation (known as "heterotopic ossification") eventually forms a secondary skeleton and progressively restricts the patient's ability to move. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Punctate Porokeratosis
Porokeratosis is a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Types Porokeratosis may be divided into the following clinical types: * ''Plaque-type porokeratosis'' (also known as "Classic porokeratosis" and "Porokeratosis of Mibelli") is characterized by skin lesions that start as small, brownish papules that slowly enlarge to form irregular, annular, hyperkeratotic or verrucous plaques.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Sometimes they may show gross overgrowth and even horn-like structures may develop. Skin malignancy, although rare, is reported from all types of porokeratosis. Squamous ... [...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] |
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy although without resistance of parathyroid hormone as frequently seen in that affliction. The term Pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of Pseudohypoparathyroidism type 1a, but has (unexpected for the phenotype) normal labs including calcium and PTH. It can be considered a variant of Albright hereditary osteodystrophy, or Pseudohypoparathyroidism type 1A, as they present with the same constellation of signs and symptoms, including short stature, brachydactyly, subcutaneous calcification, and obesity. Presentation Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions: Hormone resistance is not present in Pseudopseudohypoparathyroidism. Short stature may be present. Obesity is less ... [...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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