Fibrous dysplasia, polyostotic

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Fibrous dysplasia, polyostotic

Fibrous dysplasia, polyostotic

A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called McCune-Albright syndrome or the Albright syndrome. In the syndrome, there is bone disease with fractures and deformity of the legs, arms and skull; pigment patches of the skin; and endocrine (hormonal) disease with early puberty (early menstrual bleeding, development of breasts and pubic hair) and an increased rate of growth. Polyostotic fibrous dysplasia is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1).

RELATED TERMS
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Genetic
Hereditary. Having to do with the genes.

Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).

Premature
The term used to describe babies born before 37 weeks of gestation. Fewer than 10 percent of babies arrive this early.

Sexual
Pertaining to sex or, more particularly, the stimulation, responsiveness, and functions of the sex organs either alone or with one or more partners.

Development
The process of growth and differentiation.

Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.

Bone
Bone refers either to a hardened connective tissue or to one of the individual structures, or organs, into which it is formed, found in many animals. Bones support body structures, protect internal organs, and (in conjunction with muscles) facilitate movement; are also involved with cell formation, calcium metabolism, and mineral storage. The bones of an animal are, collectively, known as the skeleton.

Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Arms
An appendage in anatomy and in clinical trials. See: Arm.

Skull
The bony framework of the head.

Endocrine
Pertaining to hormones and the glands that make and secrete them into the bloodstream through which they travel to affect distant organs. The endocrine sites include the hypothalamus, pituitary gland, pineal gland, thyroid, parathyroids, heart (which makes atrial-natriuretic peptide), the stomach and intestines, islets of Langerhans in the pancreas, the adrenal glands, the kidney (which makes renin, erythropoietin, and calcitriol), fat cells (which make leptin). the testes, the ovarian follicle (estrogens) and the corpus luteum in the ovary). Endocrine is as opposed to exocrine. (The exocrine glands include the salivary glands, sweat glands and glands within the gastrointestinal tract.)

Puberty
A sequence of events by which a child becomes a young adult; characterized by secretions of hormones, development of secondary sexual characteristics, reproductive functions, and growth spurts.

Menstrual
An endocrine cycle of 28 days in women which includes fluctuations in estrogen and progesterone, the events of enodmetrial development, follicular maturation, ovulation, changes in cervical mucus secretion, breast vascularization changes, and if pregnancy does not occur, menstruation.

Dysplasia
An abnormality of growth.

Mosaicism
A type of Down syndrome in which only some of a baby's cells have the extragenetic material that characterizes the disorder.

Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.

Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.

Protein
Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others.

SIMILAR TERMS
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Fibrates for lowering cholesterol
Fibrates are cholesterol-lowering drugs that are primarily effective in lowering triglycerides and, to a lesser extent, in increasing HDL-cholesterol levels.

Fibril
The diminutive of fiber. A small fiber, a fine thread.

Fibrillation
Rapid contractions of the heart muscles.

Fibrillation, atrial
An abnormal irregular heart rhythm whereby electrical signals are generated chaotically throughout the upper chambers (atria) of the heart. Although many persons with atrial fibrillation have no symptoms, the most common symptom is palpitations, an uncomfortable awareness of the rapid and irregular heartbeat. Atrial fibrillation can cause blood clots that travel from the heart to the brain, causing stroke. Treatment of atrial fibrillation involves controlling the risk factors, medications to slow the heart rate and/or convert the heart to normal rhythm, and preventing complications of blood clotting.

Fibrillation, auricular
Essentially the same as atrial fibrillation.

Fibrillation, ventricular
An abnormal irregular heart rhythm whereby there are very rapid uncoordinated fluttering contractions of the lower chambers (ventricles) of the heart. Ventricular fibrillation disrupts the synchrony between the heartbeat and the pulse beat. Ventricular fibrillation is commonly associated with heart attacks or scarring of the heart muscle from previous heart attack. Ventricular fibrillation is life threatening.

Fibrin
A filamentous protein formed from the precursor fibrinogen by the enzyme thrombin.

Fibrinogen
The protein from which is generated fibrin, the essence of a normal blood clot.

Fibroadenoma
Noncancerous, firm, rubbery lump in the breast that is painless and moves around easily when touched.

Fibroblast
A connective tissue cell.

Fibroblast growth factor receptor 2
A mutation (change) in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best-known type of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities of the skull and face and the hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful with the skull, face, hands and feet. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are inherited as dominant traits.

Fibrocystic breasts
Noncancerous condition in which small lumps and cysts develop in the breasts.

Fibrodysplasia ossificans progressiva (FOP)
A rare but dramatic genetic disorder that turns muscles, tendons and ligaments into bone, threatening to transform the victim into "a statue of stone." FOP is characterized by physical handicap due to bone forming in the wrong places and malformed big toes which often contain only one bone. Other features of FOP can include short thumbs, fifth finger clinodactyly (pinkie curved toward the thumb), malformed cervical (neck) vertebrae, short broad neck of the femur (thighbone), deafness, scalp baldness, and mild mental retardation.

Fibroid
A noncancerous tumor of the uterus composed of muscle fibers. Also called uterine myoma.

Fibroids
Noncancerous growths in, on, or within the walls of the uterus that develop from muscle cells in the wall of the uterus.

Fibroma
A mass composed of fibrous tissue or connective tissue. Also called a fibroid tumor or fibroid.

Fibroma, cemento-ossifying
A hard fibrous lesion that continues to grow, sometimes to very large size, unless treated, most frequently seen in the jaw or mouth, sometimes in connection with a fracture or another type of injury. Treatment is by surgery. Abbreviated COF.

Fibroma, desmoplastic
A rare type of primary bone tumor characteristically composed of well-differentiated cells that produce collagen. Desmoplastic fibromas are discovered most often in the first three decades of life, in the mandible (the femur and pelvis are also favored sites). Although benign, these tumors are locally infiltrative and may cause pain and swelling or an effusion (if near a joint). Treatment is surgical removal but the tumor may recur.

Fibroma, nonossifying
A growing lesion with a fibroma structure. Treatment is by surgery.

Fibromyalgia
Fibromyalgia is a debilitating chronic syndrome (constellation of signs and symptoms) characterized by diffuse pain, fatigue, and a wide range of other symptoms. It is not contagious, and recent studies suggest that people with fibromyalgia may be genetically predispose. It affects more women than men, with a ratio globally of 3-5:1. Fibromyalgia is seen in 3-10% of the general population, and is mostly found between the ages 20 and 50.

Fibrosarcoma
A malignant tumor that begins in fibrous connective tissue at the ends of the arm or leg bones and may spread to surrounding soft tissue. Fibrosarcoma is the most common soft tissue sarcoma found in children under one year of age. It presents as a rapidly growing mass at birth or early infancy. Fibrosarcoma can also occur in older children and adults. The symptoms may include a lump, soreness, pain, or a limp (if the tumor is in the leg).

Fibrosis
The presence of scar tissue or collagen fibers in any tissue. In the liver, fibrosis or scarring of the liver damages the architecture and thus the functionality of the organ. Fibrosis, combined with the liver’s ability to regenerate, causes cirrhosis (regeneration within the scar tissue).

Fibrosis, cystic
One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up.

Fibrosis, radiation
Scarring of the lungs from radiation. Radiation fibrosis is a sequel of radiation pneumonitis (inflammation of the lungs due to radiation), as from radiation therapy. Radiation pneumonitis typically occurs after radiation treatments for cancer within the chest or breast and usually manifests itself 2 weeks to 6 months after completion of radiation therapy. Symptoms include shortness of breath upon activity, cough and fever. Radiation pneumonitis frequently is discovered as an incidental finding on chest x-ray in patients who have no symptoms.

Fibrositis
Inflammation of fibrous connective tissues in muscles. It often affects the muscles of the trunk and back. It may be a symptom of another disease, such as Sciatica, but in most cases the cause is unknown. Pain and stiffness.

Fibrous dysplasia, monostotic
Excessive growth of hard fibrous tissue that replaces normal bone tissue in a single bone. Symptoms may include pain and fracture of the bone. Most cases are diagnosed in adolescence and young adulthood and remain unchanged throughout life. The prognosis (outlook) is usually very good.

Fibrous tissue
Tissue consisting of or containing fibers.

PREVIOUS AND NEXT TERMS
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Fibroma, nonossifying
A growing lesion with a fibroma structure. Treatment is by surgery.

Fibrosarcoma
A malignant tumor that begins in fibrous connective tissue at the ends of the arm or leg bones and may spread to surrounding soft tissue. Fibrosarcoma is the most common soft tissue sarcoma found in children under one year of age. It presents as a rapidly growing mass at birth or early infancy. Fibrosarcoma can also occur in older children and adults. The symptoms may include a lump, soreness, pain, or a limp (if the tumor is in the leg).

Fibrosis, cystic
One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up.

Fibrosis, radiation
Scarring of the lungs from radiation. Radiation fibrosis is a sequel of radiation pneumonitis (inflammation of the lungs due to radiation), as from radiation therapy. Radiation pneumonitis typically occurs after radiation treatments for cancer within the chest or breast and usually manifests itself 2 weeks to 6 months after completion of radiation therapy. Symptoms include shortness of breath upon activity, cough and fever. Radiation pneumonitis frequently is discovered as an incidental finding on chest x-ray in patients who have no symptoms.

Fibrous dysplasia, monostotic
Excessive growth of hard fibrous tissue that replaces normal bone tissue in a single bone. Symptoms may include pain and fracture of the bone. Most cases are diagnosed in adolescence and young adulthood and remain unchanged throughout life. The prognosis (outlook) is usually very good.

Fibrous dysplasia, polyostotic

Fibulin 3
A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. The gene that encodes fibulin 3 is FBLN3 (or EFEMP1). FBLN3 is located on chromosome 2 in band 2p16. A single mutation in FBLN3 is responsible for an autosomal dominant form of macular degeneration.

Fibulin 5
A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. Fibulin 5 may be essential for the polymerization of elastin. Missense mutations in FBLN5, the gene that encodes fibulin 5, appear responsible for 1-2% of cases of age-related macular degeneration (AMD). FBLN5 is located on chromosome 14 in band 14q32.1.

Field, visual
The entire area that can be seen when the eye is directed forward, including that which is seen with peripheral vision.

Fifth cranial nerve
The fifth cranial nerve is the trigeminal nerve. The trigeminal nerve is quite complex. It functions both as the chief nerve of sensation for the face and the motor nerve controlling the muscles of mastication (chewing). Problems with the sensory part of the trigeminal nerve result in pain or loss of sensation in the face. Problems with the motor root of the trigeminal nerve result in deviation of the jaw toward the affected side and trouble chewing. The cranial nerves, the trigeminal nerve included, emerge from or enter the skull (the cranium), as opposed to the spinal nerves which emerge from the vertebral column. There are twelve cranial nerves.

Filial
1. In genetics, the first generation that results from the crossing of two parental lines, as the filial generation. 2. In general, pertaining to the relationship of children, both sons and daughters, to their parents.

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This dictionary contains 25007 terms.

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