FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.
A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).
FIBROUS DYSPLASIA OF BONE involving only one bone.
A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.
The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)
A benign central bone tumor, usually of the jaws (especially the mandible), composed of fibrous connective tissue within which bone is formed.
A family of heterotrimeric GTP-binding protein alpha subunits that activate ADENYLYL CYCLASES.
Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available.
An irregular unpaired bone situated at the SKULL BASE and wedged between the frontal, temporal, and occipital bones (FRONTAL BONE; TEMPORAL BONE; OCCIPITAL BONE). Sphenoid bone consists of a median body and three pairs of processes resembling a bat with spread wings. The body is hollowed out in its inferior to form two large cavities (SPHENOID SINUS).
Developmental bone diseases are a category of skeletal disorders that arise from disturbances in the normal growth and development of bones, including abnormalities in size, shape, structure, or composition, which can lead to various musculoskeletal impairments and deformities.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
'Mandibular diseases' refer to various medical conditions that primarily affect the structure, function, or health of the mandible (lower jawbone), including but not limited to infections, tumors, developmental disorders, and degenerative diseases.
The bones of the free part of the lower extremity in humans and of any of the four extremities in animals. It includes the FEMUR; PATELLA; TIBIA; and FIBULA.
The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Maxillary diseases refer to various medical conditions primarily affecting the maxilla (upper jaw) bone, including inflammatory processes, tumors, cysts, or traumatic injuries, which may cause symptoms such as pain, swelling, or functional impairment.
One of the paired air spaces located in the body of the SPHENOID BONE behind the ETHMOID BONE in the middle of the skull. Sphenoid sinus communicates with the posterosuperior part of NASAL CAVITY on the same side.
A set of twelve curved bones which connect to the vertebral column posteriorly, and terminate anteriorly as costal cartilage. Together, they form a protective cage around the internal thoracic organs.
Diseases of the bony orbit and contents except the eyeball.

A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. (1/108)

Imprinted genes tend to occur in clusters. We have identified a cluster in distal mouse chromosome (Chr) 2, known from early genetic studies to contain both maternally and paternally imprinted, but unspecified, genes. Subsequently, one was identified as Gnas, which encodes a G protein alpha subunit, and there is clinical and biochemical evidence that the human homologue GNAS1, mutated in patients with Albright hereditary osteodystrophy, is also imprinted. We have used representational difference analysis, based on parent-of-origin methylation differences, to isolate candidate imprinted genes in distal Chr 2 and found two oppositely imprinted genes, Gnasxl and Nesp. Gnasxl determines a variant G protein alpha subunit associated with the trans-Golgi network and Nesp encodes a secreted protein of neuroendocrine tissues. Gnasxl is maternally methylated in genomic DNA and encodes a paternal-specific transcript, whereas Nesp is paternally methylated with maternal-specific expression. Their reciprocal imprinting may offer insight into the distal Chr 2 imprinting phenotypes. Remarkably, Gnasxl, Nesp, and Gnas are all part of the same transcription unit; transcripts for Gnasxl and Nesp are alternatively spliced onto exon 2 of Gnas. This demonstrates an imprinting mechanism in which two oppositely imprinted genes share the same downstream exons.  (+info)

A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity. (2/108)

It has been reported that substitution of Arg258, a residue within the GTPase domain of the heterotrimeric guanine nucleotide binding protein (G protein) alpha-subunit (alphas), to alanine (alphas-R258A) results in decreased activation by receptor or aluminum fluoride (AlF4-) and increased basal GDP release. Arg258 interacts with Gln170 in the helical domain, and, presumably, loss of this interaction between the GTPase and helical domain leads to more rapid GDP release, resulting in decreased activation by AlF4- and increased thermolability. In this study, we mutate Gln170 to alanine (alphas-Q170A) and demonstrate that this mutant, like alphas-R258A, has decreased activation by AlF4-, increased thermolability (both reversed in the presence of excess guanine nucleotide), and an increased rate of GDP release. However, unlike alphas-R258A, alphas-Q170A does not have impaired receptor-mediated activation. Therefore, this interdomain interaction is critical to maintain normal guanine nucleotide binding (and hence normal activation by AlF4-) but is not important for receptor-mediated activation. In single turnover GTPase assays, the catalytic rate for GTP hydrolysis of alphas-R258A was 14-fold higher than normal whereas that of alphas-Q170A was unaffected. Examination of the alphas crystal structure suggests that Arg258, through interactions with Glu50, might constrain the position of Arg201, a residue critical for catalyzing the GTPase reaction. This is an example of a mutation in a heterotrimeric G protein that results in an increased intrinsic GTPase activity and provides another mechanism by which G protein mutations can impair signal transduction.  (+info)

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. (3/108)

Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a subtelomeric deletion in one patient, FISH analysis was used and a cryptic translocation between the long arms of chromosomes 2 and 8, t(2;8)(q37.3;q24.3), was detected. Remarkably, five proven and 10 probable cases with a 2qter deletion were found in the family, but none with an 8qter deletion. This was not explained by increased fetal loss. The major clinical characteristics of terminal 2q deletion are a short, stocky build, round face, sparse hair, deeply set eyes, bulbous nose, thin vermilion border, brachymetaphalangism, seizures, and developmental delay. A specific behavioural phenotype consisting of periods of hyperkinesia and aggression can develop with age. The overall phenotype is sufficiently characteristic to allow clinical recognition. The cytogenetic and molecular studies did not narrow down the common deleted region. Both testing of additional 2q markers and characterisation of other AHO-like patients with 2q37 microdeletions may help to define the candidate gene region.  (+info)

Use of aromatase inhibitors in precocious puberty. (4/108)

During puberty, estrogen causes breast maturation and growth of the uterine lining in girls, and accelerates linear growth and bone maturation in both boys and girls. Decreasing the biosynthesis of estrogen can attenuate these processes. In 12 girls with the McCune-Albright syndrome (MAS), in which precocious puberty is due to production of estrogen from ovarian cysts, testolactone (40 mg/kg per day) decreased the volume of ovarian cysts, the frequency of menses, and the rates of growth and bone maturation, for periods of 1-4 years. In a 6-month pilot study of 12 children (eight boys; four girls) with congenital adrenal hyperplasia, testolactone, in combination with an antiandrogen (flutamide), a mineralocorticoid (fludrocortisone acetate, Florinef), and a reduced glucocorticoid dose, improved the control of growth and bone maturation compared with conventional therapy. In a 6-year study of 10 boys with familial male precocious puberty, testolactone, in combination with an antiandrogen (spironolactone), decreased rates of growth and bone maturation, and increased predicted adult height. All patients who developed evidence for gonadotropin-dependent puberty were also treated with a GnRH analog. Testolactone had no important adverse effects in any group of patients, although the need for a four-times-daily dosing schedule made compliance difficult for many families. We conclude that suppressing of estrogen with testolactone was effective therapy, and that more potent and specific inhibitors of aromatase could further improve the treatment of these disorders.  (+info)

Variable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron. (5/108)

The heterotrimeric G protein G(s) is required for hormone-stimulated intracellular cAMP generation because it couples hormone receptors to the enzyme adenylyl cyclase. Hormones that activate G(s) in the kidney include parathyroid hormone, glucagon, calcitonin, and vasopressin. Recently, it has been demonstrated that the G(s)alpha gene is imprinted in a tissue-specific manner, leading to preferential expression of G(s)alpha from the maternal allele in some tissues. In the kidney, G(s)alpha is imprinted in the proximal tubule but not in more distal nephron segments, such as the thick ascending limb or collecting duct. This most likely explains why in both humans and mice heterozygous mutations in the maternal allele lead to parathyroid hormone resistance in the proximal tubule whereas mutations in the paternal allele do not. In contrast, heterozygous mutations have little effect on vasopressin action in the collecting ducts. In mice with heterozygous null G(s)alpha mutations (both those with mutations on the maternal or paternal allele), expression of the Na-K-2Cl cotransporter was decreased in the thick ascending limb, suggesting that its expression is regulated by cAMP. The G(s)alpha genes also generate alternative, oppositely imprinted transcripts encoding XLalphas, a G(s)alpha isoform with a long NH(2)-terminal extension, and NESP55, a chromogranin-like neurosecretory protein. The role, if any, of these proteins in renal physiology is unknown.  (+info)

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. (6/108)

We studied the case of a subject with an inverted duplication of 40 cM of 2q33-q37 concurrent with a 10 cM deletion of the distal 2q, the latter not being detectable by cytogenetics. Microsatellite analysis demonstrated the absence of maternal alleles in the deleted region and a double dosage for one of the maternal alleles in the duplication region. We hypothesised that this type of rearrangement occurs at meiosis I, while the two homologues are synapsed for most of their length. The presence of inverted duplicons in the same chromosome arm would favour the partial refolding of one homologue into itself so leading to the intrachromatid synapsis and recombination of the inverted repeats. The arising recombinant chromosome is deleted for the region beyond the most distal repeat and with the chromatids joined together at the level of the region located between the two duplicons. At meiosis II, the two linked chromatids can join the opposite poles provided that a breakage between the two centromeres occurs leading to a duplicated/deleted chromosome and a simply deleted chromosome. This model can be extended to all the so-called inverted duplication cases and to part of the terminal deletions. In fact the finding that, in our invdup(2q), the entire 40 cM duplication region involves only one of the two maternal alleles, indeed indicates that the abnormal crossover occurs between sister chromatids. The phenotype associated with our 2q rearrangement led us to narrow the critical region for the Albright-like syndrome to 10 cM in the subterminal 2q region.  (+info)

A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues. (7/108)

Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen during childhood or adolescence. Histologically, the features of these bone lesions sometimes look quite similar, but their precise nature remains controversial. Mutation of the alpha subunit of signal-transducing G proteins (Gsalpha), with an increase in cyclic adenosine monophosphate (cAMP) formation, has been implicated in the development of multiple endocrinopathies of the Albright-McCune syndrome and in the development of fibrous dysplasia. We studied Gsalpha mutation at the Arg201. codon in seven cases of fibrous dysplasia (six monostotic lesions and one polyostotic lesion) and seven cases of osteofibrous dysplasia using formalin-fixed, paraffin-embedded tissue, by means of polymerase chain reaction-restriction fragment length polymorphism and direct sequencing analysis. All of the seven cases of fibrous dysplasia showed missense point mutations in Gsalpha at the Arg201 codon that resulted in Arg-to-His substitution in three cases and Arg-to-Cys substitution in four cases. On the other hand, the seven cases of osteofibrous dysplasia and the normal bone used as a control showed no such mutation. These data suggest that fibrous dysplasia and osteofibrous dysplasia have different pathogeneses and that the detection of Gsalpha mutation at the Arg201 codon is quite useful for distinguishing between these lesions.  (+info)

Oral manifestations of Albright hereditary osteodystrophy: a case report. (8/108)

Albright hereditary osteodystrophy is a hereditary metabolic disorder of dominant autosomal etiology that is commonly characterized by short stature, round face, small metacarpus and metatarsus, mental retardation, osteoporosis, subcutaneous calcification, variable hypocalcemia, and hyperphosphatemia. In this study, we report a clinical case of a 17-year-old woman with Albright hereditary osteodystrophy, and we discuss her clinical, radiographic, and laboratory test characteristics together with the oral manifestations, and we correlate them with the characteristics found in the literature. We also discuss the odontological management of treatment of related periodontal disease and planning for corrections of related malocclusions.  (+info)

Fibrous Dysplasia, Polyostotic is a rare genetic disorder that affects the bone tissue. It is characterized by the replacement of normal bone tissue with fibrous (scar-like) tissue, leading to weak and fragile bones that are prone to fractures and deformities. The term "polyostotic" refers to the involvement of multiple bones in the body.

In this condition, there is an abnormal development of the bone during fetal growth or early childhood due to a mutation in the GNAS gene. This results in the formation of fibrous tissue instead of normal bone tissue, leading to the characteristic features of Fibrous Dysplasia, Polyostotic.

The symptoms of this condition can vary widely depending on the severity and location of the affected bones. Common symptoms include:

* Bone pain and tenderness
* Bone deformities (such as bowing of the legs)
* Increased risk of fractures
* Skin pigmentation changes (cafe-au-lait spots)
* Hearing loss or other hearing problems (if the skull is affected)

Fibrous Dysplasia, Polyostotic can also be associated with endocrine disorders such as precocious puberty and hyperthyroidism. Treatment typically involves a combination of medications to manage pain and prevent fractures, as well as surgical intervention to correct bone deformities or stabilize fractures.

Fibrous Dysplasia of Bone is a rare, benign bone disorder that is characterized by the replacement of normal bone tissue with fibrous (scar-like) and immature bone tissue. This results in weakened bones that are prone to fractures, deformities, and pain. The condition can affect any bone in the body but most commonly involves the long bones of the legs, arms, and skull. It can occur as an isolated finding or as part of a genetic disorder called McCune-Albright syndrome. The exact cause of fibrous dysplasia is not fully understood, but it is believed to result from a genetic mutation that occurs during early bone development. There is no cure for fibrous dysplasia, and treatment typically focuses on managing symptoms and preventing complications.

Fibrous dysplasia, monostotic is a benign bone disorder that affects a single bone (monostotic) and is characterized by the replacement of normal bone tissue with fibrous (scar-like) tissue. This results in the formation of abnormal bone that is weakened and more susceptible to fractures. The lesions can cause deformities, pain, and decreased mobility, depending on their size and location. Monostotic fibrous dysplasia is the most common form of fibrous dysplasia, accounting for approximately 70-80% of all cases. It typically manifests during childhood or adolescence and may stabilize or progress slowly over time. In some cases, it can be associated with endocrine disorders such as precocious puberty, hyperthyroidism, or growth hormone excess.

Osteitis deformans, also known as Paget's disease of bone, is a chronic disorder of the bone characterized by abnormal turnover and remodeling of the bone. In this condition, the bone becomes enlarged, thickened, and deformed due to excessive and disorganized bone formation and resorption.

The process begins when the bone-remodeling cycle is disrupted, leading to an imbalance between the activity of osteoclasts (cells that break down bone) and osteoblasts (cells that form new bone). In Paget's disease, osteoclasts become overactive and increase bone resorption, followed by an overzealous response from osteoblasts, which attempt to repair the damage but do so in a disorganized manner.

The affected bones can become weakened, prone to fractures, and may cause pain, deformities, or other complications such as arthritis, hearing loss, or neurological symptoms if the skull or spine is involved. The exact cause of Paget's disease remains unknown, but it is believed that genetic and environmental factors play a role in its development.

Early diagnosis and treatment can help manage the symptoms and prevent complications associated with osteitis deformans. Treatment options include medications to slow down bone turnover, pain management, and orthopedic interventions when necessary.

The facial bones, also known as the facial skeleton, are a series of bones that make up the framework of the face. They include:

1. Frontal bone: This bone forms the forehead and the upper part of the eye sockets.
2. Nasal bones: These two thin bones form the bridge of the nose.
3. Maxilla bones: These are the largest bones in the facial skeleton, forming the upper jaw, the bottom of the eye sockets, and the sides of the nose. They also contain the upper teeth.
4. Zygomatic bones (cheekbones): These bones form the cheekbones and the outer part of the eye sockets.
5. Palatine bones: These bones form the back part of the roof of the mouth, the side walls of the nasal cavity, and contribute to the formation of the eye socket.
6. Inferior nasal conchae: These are thin, curved bones that form the lateral walls of the nasal cavity and help to filter and humidify air as it passes through the nose.
7. Lacrimal bones: These are the smallest bones in the skull, located at the inner corner of the eye socket, and help to form the tear duct.
8. Mandible (lower jaw): This is the only bone in the facial skeleton that can move. It holds the lower teeth and forms the chin.

These bones work together to protect vital structures such as the eyes, brain, and nasal passages, while also providing attachment points for muscles that control chewing, expression, and other facial movements.

A fibroma, ossifying is a benign (non-cancerous) tumor that typically develops in the periodontal ligament, which is the tissue that connects the tooth to the jawbone. This type of fibroma is characterized by the formation of bone-like tissue within the tumor. It usually appears as a firm, slow-growing nodule or mass that can cause pain or discomfort, particularly when biting down on the affected tooth.

The exact cause of ossifying fibromas is not well understood, but they are thought to arise from an overgrowth of cells in the periodontal ligament. They are more common in women than men and typically occur in people between the ages of 20 and 40. Treatment usually involves surgical removal of the tumor, along with any affected tissue or teeth. In some cases, recurrence may occur, so regular follow-up appointments with a dental professional are recommended.

GTP-binding protein alpha subunits, Gs, are a type of heterotrimeric G proteins that play a crucial role in the transmission of signals within cells. These proteins are composed of three subunits: alpha, beta, and gamma. The alpha subunit of Gs proteins (Gs-alpha) is responsible for activating adenylyl cyclase, an enzyme that converts ATP to cyclic AMP (cAMP), a secondary messenger involved in various cellular processes.

When a G protein-coupled receptor (GPCR) is activated by an extracellular signal, it interacts with and activates the Gs protein. This activation causes the exchange of guanosine diphosphate (GDP) bound to the alpha subunit with guanosine triphosphate (GTP). The GTP-bound Gs-alpha then dissociates from the beta-gamma subunits and interacts with adenylyl cyclase, activating it and leading to an increase in cAMP levels. This signaling cascade ultimately results in various cellular responses, such as changes in gene expression, metabolism, or cell growth and differentiation.

It is important to note that mutations in the GNAS gene, which encodes the Gs-alpha subunit, can lead to several endocrine and non-endocrine disorders, such as McCune-Albright syndrome, fibrous dysplasia, and various hormone-related diseases.

Jaw neoplasms refer to abnormal growths or tumors in the jawbone (mandible) or maxilla (upper jaw). These growths can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are not considered life-threatening, but they can still cause problems by invading nearby tissues and causing damage. Malignant neoplasms, on the other hand, can spread to other parts of the body and can be life-threatening if not treated promptly and effectively.

Jaw neoplasms can present with various symptoms such as swelling, pain, loose teeth, numbness or tingling in the lips or tongue, difficulty chewing or swallowing, and jaw stiffness or limited movement. The diagnosis of jaw neoplasms typically involves a thorough clinical examination, imaging studies such as X-rays, CT scans, or MRI, and sometimes a biopsy to determine the type and extent of the tumor.

Treatment options for jaw neoplasms depend on several factors, including the type, size, location, and stage of the tumor, as well as the patient's overall health and medical history. Treatment may involve surgery, radiation therapy, chemotherapy, or a combination of these modalities. Regular follow-up care is essential to monitor for recurrence or metastasis (spread) of the neoplasm.

The sphenoid bone is a complex, irregularly shaped bone located in the middle cranial fossa and forms part of the base of the skull. It articulates with several other bones, including the frontal, parietal, temporal, ethmoid, palatine, and zygomatic bones. The sphenoid bone has two main parts: the body and the wings.

The body of the sphenoid bone is roughly cuboid in shape and contains several important structures, such as the sella turcica, which houses the pituitary gland, and the sphenoid sinuses, which are air-filled cavities within the bone. The greater wings of the sphenoid bone extend laterally from the body and form part of the skull's lateral walls. They contain the superior orbital fissure, through which important nerves and blood vessels pass between the cranial cavity and the orbit of the eye.

The lesser wings of the sphenoid bone are thin, blade-like structures that extend anteriorly from the body and form part of the floor of the anterior cranial fossa. They contain the optic canal, which transmits the optic nerve and ophthalmic artery between the brain and the orbit of the eye.

Overall, the sphenoid bone plays a crucial role in protecting several important structures within the skull, including the pituitary gland, optic nerves, and ophthalmic arteries.

Developmental bone diseases are a group of medical conditions that affect the growth and development of bones. These diseases are present at birth or develop during childhood and adolescence, when bones are growing rapidly. They can result from genetic mutations, hormonal imbalances, or environmental factors such as poor nutrition.

Some examples of developmental bone diseases include:

1. Osteogenesis imperfecta (OI): Also known as brittle bone disease, OI is a genetic disorder that affects the body's production of collagen, a protein necessary for healthy bones. People with OI have fragile bones that break easily and may also experience other symptoms such as blue sclerae (whites of the eyes), hearing loss, and joint laxity.
2. Achondroplasia: This is the most common form of dwarfism, caused by a genetic mutation that affects bone growth. People with achondroplasia have short limbs and a large head relative to their body size.
3. Rickets: A condition caused by vitamin D deficiency or an inability to absorb or use vitamin D properly. This leads to weak, soft bones that can bow or bend easily, particularly in children.
4. Fibrous dysplasia: A rare bone disorder where normal bone is replaced with fibrous tissue, leading to weakened bones and deformities.
5. Scoliosis: An abnormal curvature of the spine that can develop during childhood or adolescence. While not strictly a developmental bone disease, scoliosis can be caused by various underlying conditions such as cerebral palsy, muscular dystrophy, or spina bifida.

Treatment for developmental bone diseases varies depending on the specific condition and its severity. Treatment may include medication, physical therapy, bracing, or surgery to correct deformities and improve function. Regular follow-up with a healthcare provider is essential to monitor growth, manage symptoms, and prevent complications.

The skull is the bony structure that encloses and protects the brain, the eyes, and the ears. It is composed of two main parts: the cranium, which contains the brain, and the facial bones. The cranium is made up of several fused flat bones, while the facial bones include the upper jaw (maxilla), lower jaw (mandible), cheekbones, nose bones, and eye sockets (orbits).

The skull also provides attachment points for various muscles that control chewing, moving the head, and facial expressions. Additionally, it contains openings for blood vessels, nerves, and the spinal cord to pass through. The skull's primary function is to protect the delicate and vital structures within it from injury and trauma.

Mandibular diseases refer to conditions that affect the mandible, or lower jawbone. These diseases can be classified as congenital (present at birth) or acquired (developing after birth). They can also be categorized based on the tissues involved, such as bone, muscle, or cartilage. Some examples of mandibular diseases include:

1. Mandibular fractures: These are breaks in the lower jawbone that can result from trauma or injury.
2. Osteomyelitis: This is an infection of the bone and surrounding tissues, which can affect the mandible.
3. Temporomandibular joint (TMJ) disorders: These are conditions that affect the joint that connects the jawbone to the skull, causing pain and limited movement.
4. Mandibular tumors: These are abnormal growths that can be benign or malignant, and can develop in any of the tissues of the mandible.
5. Osteonecrosis: This is a condition where the bone tissue dies due to lack of blood supply, which can affect the mandible.
6. Cleft lip and palate: This is a congenital deformity that affects the development of the face and mouth, including the lower jawbone.
7. Mandibular hypoplasia: This is a condition where the lower jawbone does not develop properly, leading to a small or recessed chin.
8. Developmental disorders: These are conditions that affect the growth and development of the mandible, such as condylar hyperplasia or hemifacial microsomia.

'Leg bones' is a general term that refers to the bones in the leg portion of the lower extremity. In humans, this would specifically include:

1. Femur: This is the thigh bone, the longest and strongest bone in the human body. It connects the hip bone to the knee.

2. Patella: This is the kneecap, a small triangular bone located at the front of the knee joint.

3. Tibia and Fibula: These are the bones of the lower leg. The tibia, or shin bone, is the larger of the two and bears most of the body's weight. It connects the knee to the ankle. The fibula, a slender bone, runs parallel to the tibia on its outside.

Please note that in medical terminology, 'leg bones' doesn't include the bones of the foot (tarsal bones, metatarsal bones, and phalanges), which are often collectively referred to as the 'foot bones'.

The frontal bone is the bone that forms the forehead and the upper part of the eye sockets (orbits) in the skull. It is a single, flat bone that has a prominent ridge in the middle called the superior sagittal sinus, which contains venous blood. The frontal bone articulates with several other bones, including the parietal bones at the sides and back, the nasal bones in the center of the face, and the zygomatic (cheek) bones at the lower sides of the orbits.

Café-au-lait spots are light to dark brown, flat patches on the skin that are benign and usually harmless. The term "café-au-lait" means "coffee with milk," which describes the color of these spots. They can vary in size from a few millimeters to several centimeters in diameter and can appear anywhere on the body, although they are most commonly found on the trunk and buttocks.

While café-au-lait spots are common and can occur in up to 20% of the general population, having multiple (more than six) such spots, especially if they are large or present at birth, may be a sign of an underlying medical condition, such as neurofibromatosis type 1 (NF1), a genetic disorder that affects the growth and development of nerve tissue.

Therefore, it is essential to monitor café-au-lait spots and report any changes or concerns to a healthcare provider.

Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and formation of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The condition is usually present at birth or appears in early infancy.

The symptoms of ED can vary widely depending on the specific type and severity of the disorder. Common features may include:

* Sparse or absent hair
* Thin, wrinkled, or rough skin
* Abnormal or missing teeth
* Nail abnormalities
* Absent or reduced sweat glands, leading to heat intolerance and problems regulating body temperature
* Ear abnormalities, which can result in hearing loss
* Eye abnormalities

ED is caused by mutations in genes that are involved in the development of ectodermal tissues. Most cases of ED are inherited in an autosomal dominant or autosomal recessive pattern, meaning that a child can inherit the disorder even if only one parent (dominant) or both parents (recessive) carry the mutated gene.

There is no cure for ED, but treatment is focused on managing the symptoms and improving quality of life. This may include measures to maintain body temperature, such as cooling vests or frequent cool baths; dental treatments to replace missing teeth; hearing aids for hearing loss; and skin care regimens to prevent dryness and irritation.

Maxillary diseases refer to conditions that affect the maxilla, which is the upper bone of the jaw. This bone plays an essential role in functions such as biting, chewing, and speaking, and also forms the upper part of the oral cavity, houses the upper teeth, and supports the nose and the eyes.

Maxillary diseases can be caused by various factors, including infections, trauma, tumors, congenital abnormalities, or systemic conditions. Some common maxillary diseases include:

1. Maxillary sinusitis: Inflammation of the maxillary sinuses, which are air-filled cavities located within the maxilla, can cause symptoms such as nasal congestion, facial pain, and headaches.
2. Periodontal disease: Infection and inflammation of the tissues surrounding the teeth, including the gums and the alveolar bone (which is part of the maxilla), can lead to tooth loss and other complications.
3. Maxillary fractures: Trauma to the face can result in fractures of the maxilla, which can cause pain, swelling, and difficulty breathing or speaking.
4. Maxillary cysts and tumors: Abnormal growths in the maxilla can be benign or malignant and may require surgical intervention.
5. Oral cancer: Cancerous lesions in the oral cavity, including the maxilla, can cause pain, swelling, and difficulty swallowing or speaking.

Treatment for maxillary diseases depends on the specific condition and its severity. Treatment options may include antibiotics, surgery, radiation therapy, or chemotherapy. Regular dental check-ups and good oral hygiene practices can help prevent many maxillary diseases.

The sphenoid sinuses are air-filled spaces located within the sphenoid bone, which is one of the bones that make up the skull base. These sinuses are located deep inside the skull, behind the eyes and nasal cavity. They are paired and separated by a thin bony septum, and each one opens into the corresponding nasal cavity through a small opening called the sphenoethmoidal recess. The sphenoid sinuses vary greatly in size and shape between individuals. They develop during childhood and continue to grow until early adulthood. The function of the sphenoid sinuses, like other paranasal sinuses, is not entirely clear, but they may contribute to reducing the weight of the skull, resonating voice during speech, and insulating the brain from trauma.

In medical terms, ribs are the long, curved bones that make up the ribcage in the human body. They articulate with the thoracic vertebrae posteriorly and connect to the sternum anteriorly via costal cartilages. There are 12 pairs of ribs in total, and they play a crucial role in protecting the lungs and heart, allowing room for expansion and contraction during breathing. Ribs also provide attachment points for various muscles involved in respiration and posture.

Orbital diseases refer to a group of medical conditions that affect the orbit, which is the bony cavity in the skull that contains the eye, muscles, nerves, fat, and blood vessels. These diseases can cause various symptoms such as eyelid swelling, protrusion or displacement of the eyeball, double vision, pain, and limited extraocular muscle movement.

Orbital diseases can be broadly classified into inflammatory, infectious, neoplastic (benign or malignant), vascular, traumatic, and congenital categories. Some examples of orbital diseases include:

* Orbital cellulitis: a bacterial or fungal infection that causes swelling and inflammation in the orbit
* Graves' disease: an autoimmune disorder that affects the thyroid gland and can cause protrusion of the eyeballs (exophthalmos)
* Orbital tumors: benign or malignant growths that develop in the orbit, such as optic nerve gliomas, lacrimal gland tumors, and lymphomas
* Carotid-cavernous fistulas: abnormal connections between the carotid artery and cavernous sinus, leading to pulsatile proptosis and other symptoms
* Orbital fractures: breaks in the bones surrounding the orbit, often caused by trauma
* Congenital anomalies: structural abnormalities present at birth, such as craniofacial syndromes or dermoid cysts.

Proper diagnosis and management of orbital diseases require a multidisciplinary approach involving ophthalmologists, neurologists, radiologists, and other specialists.

... is a form of fibrous dysplasia affecting more than one bone. Fibrous dysplasia is a disorder ... McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. When polyostotic fibrous dysplasia ... Fibrous dysplasia of bone Monostotic fibrous dysplasia List of radiographic findings associated with cutaneous conditions James ... Khadilkar VV, Khadilkar AV, Maskati GB (September 2003). "Oral bisphosphonates in polyostotic fibrous dysplasia". Indian ...
Polyostotic fibrous dysplasia Tafti, Dawood; Cecava, Nathan D. (2021). "Fibrous Dysplasia". StatPearls. StatPearls Publishing. ... Monostotic fibrous dysplasia is a form of fibrous dysplasia where only one bone is involved. It comprises a majority of the ... "Fibrous Dysplasia of Maxillary Sinus". Int. Arch. Otorhinolaryngol. 13 (2): 214-217. Singer, Frederick. "Fibrous Dysplasia". ... Monostotic fibrous dysplasia does not convert into the polyostotic type. When symptoms are present, they often are nonspecific ...
"Bone-Grafting in Polyostotic Fibrous Dysplasia". The Journal of Bone and Joint Surgery. American Volume. 98 (3): 211-219. doi: ... Fibrous dysplasia is very rare, and there is no known cure. Fibrous dysplasia is not a form of cancer. Fibrous dysplasia is a ... can diagnose fibrous dysplasia definitely.[citation needed] Treatment in fibrous dysplasia is mainly palliative, and is focused ... and should be performed in all patients with suspected fibrous dysplasia. Children with fibrous dysplasia in the appendicular ...
Lionitis Maramattom BV (2006). "Leontiasis ossea and post traumatic cervical cord contusion in polyostotic fibrous dysplasia". ... It is not a disease in itself, but a symptom of other diseases, including Paget's disease, fibrous dysplasia, ...
He suffered from polyostotic fibrous dysplasia that caused his face to be deformed. He attended Eastland High School, ...
Casseus suffered from polyostotic fibrous dysplasia, a genetic condition in which the bone structure is replaced by connective ... Polyostotic fibrous dysplasia definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms. ...
Casseus suffers from polyostotic fibrous dysplasia, a genetic condition in which the bone structure is replaced by connective ... Polyostotic fibrous dysplasia definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms. ...
... such as Maffucci syndrome and polyostotic fibrous dysplasia (Albright's disease). In a 1986 article in the British Medical ...
Polyostotic fibrous dysplasia (Albright's disease) Popliteal pterygium syndrome Porokeratosis Porokeratosis palmaris et ... Fibrous hamartoma of infancy Fibrous papule of the nose (benign solitary fibrous papule, fibrous papule of the face) Folded ... benign fibrous histiocytoma, dermal dendrocytoma, fibrous dermatofibroma, fibrous histiocytoma, fibroma simplex, histiocytoma, ... epidermolysis bullosa Ectodermal dysplasia Ectodermal dysplasia with corkscrew hairs Ectrodactyly-ectodermal dysplasia-cleft ...
... fibrous dysplasia, monostotic MeSH C05.116.099.708.375.381 - fibrous dysplasia, polyostotic MeSH C05.116.099.708.479 - ... fibrous dysplasia of bone MeSH C05.116.099.708.375.199 - cherubism MeSH C05.116.099.708.375.372 - ... cleidocranial dysplasia MeSH C05.116.099.708.281 - diaphyseal dysplasia, progressive MeSH C05.116.099.708.327 - Ellis-van ... thanatophoric dysplasia MeSH C05.116.099.736 - osteolysis, essential MeSH C05.116.099.742 - platybasia MeSH C05.116.099.750 - ...
Lepromatous leprosy Paget's disease of bone Mycosis fungoides Polyostotic fibrous dysplasia Amyloidosis Actinic reticuloid ...
... polyostotic fibrous dysplasia of bone, and some pituitary tumors. Mutations in the repeat region of the XL exon leads to a ...
He described polyostotic fibrous dysplasia (a version of this disease with an endocrine component was later eponymically called ...
Haitian woman with polyostotic fibrous dysplasia Cassius (disambiguation) This disambiguation page lists articles associated ...
... hand defect Polyneuropathy mental retardation acromicria prema Polyomavirus Infections Polyostotic fibrous dysplasia Polyposis ... Panhypopituitarism Panic disorder Panmyelophthisis aplastic anemia Panniculitis Panophobia Panostotic fibrous dysplasia ... Pelvic dysplasia arthrogryposis of lower limbs Pelvic inflammatory disease Pelvic lipomatosis Pelvic shoulder dysplasia ... Psellismophobia Pseudoa-Pseudom Pseudoachondroplasia Pseudoachondroplastic dysplasia 1 Pseudoachondroplastic dysplasia ...
Fibrous dysplasia (specifically, polyostotic fibrous dysplasia) Hyperpigmented skin lesions with characteristic features, ... Boyce, Alison M; Collins, Michael T (1993). "Fibrous Dysplasia/McCune-Albright Syndrome". Fibrous Dysplasia/McCune-Albright ... X-rays are usually sufficient to reveal fibrous dysplasia of the appendicular skeleton, but CT and/or MRI scans can reveal ... GeneReviews entry for fibrous dysplasia/McCune-Albright Syndrome (CS1 errors: periodical ignored, CS1 maint: multiple names: ...
Polyostotic fibrous dysplasia - Polytrauma - Ponseti method - Porotic hyperostosis - Pott's fracture - Preiser disease - ... Fibrous dysplasia of bone - Fibrous joint - Fibular fracture - Ficat classification - Finkelstein's test - Fixation (surgical ... Monostotic fibrous dysplasia - Monteggia fracture - Moore or Southern posterior approach to the hip - Moore's fracture - ... Hip dysplasia (human) - Hip examination - Hip fracture - Hip replacement - Hip resurfacing - Hip spica cast - Hoffa fracture - ...
Infantile fibrosarcoma Congenital fibrosarcoma M8815/0 Solitary fibrous tumor Localized fibrous tumor M8815/3 Solitary fibrous ... NOS Periapical cemental dysplasia or cemento-osseus dysplasia M9273/0 Cementoblastoma, benign M9274/0 Cementifying fibroma ... poly-ostotic M9754/3 Langerhans cell histiocytosis, disseminated Langerhans cell histiocytosis, generalized Letterer-Siwe ... malignant or NOS M9051/0 Fibrous mesothelioma, benign M9051/3 Fibrous mesothelioma, malignant or NOS Spindled mesothelioma ...
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. Fibrous dysplasia is a disorder ... McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. When polyostotic fibrous dysplasia ... Fibrous dysplasia of bone Monostotic fibrous dysplasia List of radiographic findings associated with cutaneous conditions James ... Khadilkar VV, Khadilkar AV, Maskati GB (September 2003). "Oral bisphosphonates in polyostotic fibrous dysplasia". Indian ...
Bone scintigraphy in polyostotic fibrous dysplasia resembling multiple bone metastases. / Hardoff, R.; Eisenberg, D.; Gross, B ... Hardoff R, Eisenberg D, Gross B. Bone scintigraphy in polyostotic fibrous dysplasia resembling multiple bone metastases. ... Bone scintigraphy in polyostotic fibrous dysplasia typically demonstrates large areas of diffusely, often unilaterally, ... Hardoff, R., Eisenberg, D., & Gross, B. (1989). Bone scintigraphy in polyostotic fibrous dysplasia resembling multiple bone ...
... a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often ... Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the ... Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. Curr Osteoporos Rep. 2016 Oct;14(5):178-86 ... Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):55 ...
... polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation (see the image below), and (3) autonomous endocrine ... Polyostotic fibrous dysplasia of the cervical spine: case report and review of the literature. Spine J. 2007 Nov-Dec. 7(6):712- ... Bisphosphonate treatment in polyostotic fibrous dysplasia of the cranium: case report and literature review. Endocr Pract. 2010 ... Wu D, Ma J, Bao S, Guan H. Continuous effect with long-term safety in zoledronic acid therapy for polyostotic fibrous dysplasia ...
... of fibrous dysplasia lesions.6-8 Fibrous dysplasia of the spine in a polyostotic form is very rare, with fewer than 36 cases ... Fibrous Dysplasia of the Spine-A Case Involving the Polyostotic Form Isolated to the Thoracolumbar Spine. Agus Hadian Rahim, ... Fibrous dysplasia of the spine in a polyostotic form is very rare, with fewer than 36 cases discussed in the literature and ... The aim of this report is to present a case from Indonesia of polyostotic fibrous dysplasia isolated in the spine. We report a ...
Fibrous dysplasia has 3 clinical patterns: *monostotic,. *polyostotic, and. *the McCune-Albright syndrome (MAS). ... for fibrous dysplasia. These researchers carried out a retrospective chart review of patients with fibrous dysplasia causing ... Progressive Visual Loss Associated with Craniofacial Fibrous Dysplasia. Bhattacharya and Mishra (2015) stated that fibrous ... Additional work is needed in the future to fully define the role of endoscopic optic nerve decompression for fibrous dysplasia ...
polyostotic fibrous dysplasia (Q78.1). Additional/Related Information Tabs. * 7th Character Notes * Category Notes ...
Fibrous dysplasia of bone may involve one bone (monostotic) or more than one (polyostotic). When the orbit is affected, the ... Fibro-osseous dysplasia (juvenile ossifying fibroma), a variant of fibrous dysplasia, is characterized histologically by ... trabeculae are composed not of lamellar bone but of woven bone with a fibrous stroma that is highly vascularized. ...
... polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation (see the image below), and (3) autonomous endocrine ... Polyostotic fibrous dysplasia of the cervical spine: case report and review of the literature. Spine J. 2007 Nov-Dec. 7(6):712- ... Bisphosphonate treatment in polyostotic fibrous dysplasia of the cranium: case report and literature review. Endocr Pract. 2010 ... Wu D, Ma J, Bao S, Guan H. Continuous effect with long-term safety in zoledronic acid therapy for polyostotic fibrous dysplasia ...
polyostotic fibrous dysplasia - the abnormal growth of two or more bones. Bones of the face, skull, arms and legs are commonly ...
... and polyostotic fibrous dysplasia.. *LEOPARD syndrome - Characterized by multiple disseminated lentigines, ECG conduction ... multiple fibrous tumors, lipomas, and angiofibromas. Spitz nevi and nevus spilus may be seen in CNC. Lentiginosis is one of the ...
... polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation (see the image below), and (3) autonomous endocrine ... Polyostotic fibrous dysplasia. Outpatient care of a child with PFD depends on the severity and location of the lesions. Vision ... Polyostotic fibrous dysplasia of the cervical spine: case report and review of the literature. Spine J. 2007 Nov-Dec. 7(6):712- ... Polyostotic fibrous dysplasia. The bony disease associated with MAS (PFD) is very difficult to treat. Currently, no clinically ...
... panostotic form of polyostotic fibrous dysplasia, non-accidental injury (multiple fractures without osteoporosis), and ... Type V is characterized by mild to moderate short stature, metaphyseal dysplasia at birth, dislocation of the radial head, ... A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone ...
O Polyostotic fibrous dysplasia,O Polyotia,O Polyphagia,O Polypoidal choroidal vasculopathy,O Polysplenia,O Polysyndactyly of ... O Fibrous cardiac diverticulum,O Fibrous dysplasia of the bones,O Fibrous hamartoma,O Fibrous syngnathia,O Fibrous tissue ... O Focal cortical dysplasia,O Focal cortical dysplasia type I,O Focal cortical dysplasia type II,O Focal cortical dysplasia type ... O Focal cortical dysplasia type Ia,O Focal cortical dysplasia type Ib,O Focal cortical dysplasia type Ic,O Focal dermal aplasia ...
To our knowledge, the present case report is the first to describe the combination of polyostotic fibrous dysplasia and intra- ... In this report, we describe the case of a 49-year-old Caucasian woman known for years to have fibrous dysplasia in the left ... This finding supports, and could provide new insight into, the pathological association between fibrous dysplasia and myxomas. ... Mazabrauds syndrome is a rare but well-described disorder characterized by fibrous dysplasia in single or multiple bones ...
... polyostotic fibrous dysplasia of bone, and some pituitary tumors. This locus has a highly complex imprinted expression pattern ... polyostotic fibrous dysplasia of bone, and some pituitary tumors. ...
... polyostotic fibrous dysplasia of bone, and some pituitary tumors. This gene has a highly complex imprinted expression pattern. ...
... right cheek and right lower extremity presenting with sudden onset vision loss and found to have polyostotic fibrous dysplasia ...
... polyostotic fibrous dysplasia (PFD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. The most common ...
CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndrome * Nail ...
Polyostotic Fibrous Dysplasia with Extensive Cartilaginous Differentiation: A Rare Case ClinicallyMimicking Ollier Disease. ...
Fibrous Dysplasia, Polyostotic, Meniere Disease, Meningitis, Meningococcal, Menopause, Mumps, Mycoplasma Infections, Hearing ...
A 37-year-old woman with a fibrous polyostotic dysplasia (FPD) of the left femur, tibia and foot was diagnosed at 11 years of ... The polyostotic form is observed in 30% of cases. It is usually diagnosed during the patients infancy. It affects the cranium ... A mutation in the GNAS1 gene has been detected,1 producing alterations in osteoplastic maturation and abnormal fibrous tissue ... deposit.2 There are two variants: monostotic and polyostotic.3 Lesions are localized on the epiphysis, metaphysis or diaphysis. ...
... polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation (see the image below), and (3) autonomous endocrine ... Polyostotic fibrous dysplasia of the cervical spine: case report and review of the literature. Spine J. 2007 Nov-Dec. 7(6):712- ... Bisphosphonate treatment in polyostotic fibrous dysplasia of the cranium: case report and literature review. Endocr Pract. 2010 ... Wu D, Ma J, Bao S, Guan H. Continuous effect with long-term safety in zoledronic acid therapy for polyostotic fibrous dysplasia ...
Engelsk navn: Polyostotic fibrous dysplasia. Definisjon. This disease is described under Fibrous dysplasia of bone ...
5] The polyostotic form is more frequently seen in female patients, 25% of all patients with polyostotic fibrous dysplasia ... Fibrous dysplasia (FD) is an abnormal bone growth where normal bone is replaced with fibrous tissue. It can occur in any part ... Fibrous dysplasia (FD) is a slow growing benign noninherited disorder in which normal bones are replaced by fibrous tissue and ... Fibrous dysplasia is a slow growing, noninherited benign disorder in which fibrous tissue and an immature woven bone replaces ...
... polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012] ...
McCune-Albright Syndrome (polyostotic fibrous dysplasia). Neurofibromatosis Type 2. Multiple autosomal dominant CAL macules ... Achondroplasia Genetics ď‚— Completely penetrant, autosomal dominant, most common skeletal ď‚— dysplasia. Unique single base pair ... sphenoid dysplasia or long-bone bowing with or without psuedoarthrosis ď‚— First degree relative with NF-1 Associated Medical ... Musculoskeletal o Hip dysplasia (5-10%) o Scoliosis and/or kyphosis (10-20%) ď‚— Renal structural abnormalities (> 60% ) o ...
... cases were classified as having monostotic fibrous dysplasia while the others four cases were classified as having polyostotic ... Fibrous dysplasia is a fibro-osseous osteopathy in which the normal bone architecture is replaced by fibrous tissue and non- ... Clinical presentation and radiographic features of fibrous dysplasia affecting the jawbone skeletal area, surgical procedures ... article is to present a retrospective review of a clinical case series with pathologically confirmed jawbone fibrous dysplasia ...
  • McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. (wikipedia.org)
  • I would like to receive information about "fibrous dysplasia," also known as the McCune-Albright syndrome. (drgreene.com)
  • McCune-Albright syndrome (MAS) consists of at least two of the following three features: (1) polyostotic fibrous dysplasia (PFD), (2) cafĂ©-au-lait skin pigmentation (see the image below), and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). (medscape.com)
  • People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. (medlineplus.gov)
  • Polyostotic fibrous dysplasia may be seen in some syndromes, including McCune-Albright syndrome (polyostotic fibrous dysplasia, cafĂ©-au-lait spots, and endocrinopathies) and Mazabraud syndrome (polyostotic fibrous dysplasia, intramuscular myxomas). (jbjs.org)
  • Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. (nih.gov)
  • The clinical spectrum of fibrous dysplasia varies widely, including single lesions (monostotic), multiple lesions (polyostotic), and the combination of polyostotic fibrous dysplasia with extra-skeletal manifestations such as cafĂ©-au-lait patches and/or endocrinopathies such as precocious puberty and growth-hormone excess in the McCune-Albright Syndrome or intramuscular myxomas in the Mazabraud's syndrome. (5dok.net)
  • She also helped to create the first Fibrous Dysplasia/McCune-Albright Syndrome Patient Registry. (washington.edu)
  • Have you ever gone to a long-awaited medical appointment only to realize the provider isn't familiar with fibrous dysplasia, McCune-Albright syndrome (FD/MAS)? (fdmasalliance.org)
  • At 13 years old, she is a rollercoaster rider, a swimmer, a Bath & Body Works shopper, a future anesthesiologist, and living every day with McCune-Albright syndrome (MAS) and Polyostotic Fibrous Dysplasia (PFD). (fdmasalliance.org)
  • For patients with fibrous dysplasia and McCune-Albright syndrome (FD/MAS), a life free of pain, anxiety, and depression is often overlooked in the task of day-to-day living. (fdmasalliance.org)
  • McCune Albright Syndrome is a rare disease characterized by classic triad of polyostotic fibrous dysplasia, cafĂ©-au-lait spots and endocrine dysfunction and out of them cushings syndrome is a fatal manifestation which might need bilateral adrenalectomy. (eurospe.org)
  • Boyce AM, Burke A , Peck C, DuFresne CR, Lee JS, Collins MT. Surgical management of polyostotic craniofacial fibrous dysplasia: long-term outcomes and predictors for post-operative regrowth. (washington.edu)
  • Craniofacial involvement in fibrous dysplasia may be considered a "monostotic" location despite involvement of several craniofacial bones or more rarely be part of a polyostotic fibrous dysplasia. (grayscalecourses.com)
  • Although more cases are monostotic, a higher proportion of polyostotic cases have craniofacial involvement (50%) versus craniofacial involvement in monostotic cases (25%) - although recall monostotic disease is overall more common. (grayscalecourses.com)
  • Within craniofacial fibrous dysplasia involvement of the anterior bones is more common than lateral or posterior bones with a recent study in the more sensitive CT era suggesting that ethmoidal involvement is the most common. (grayscalecourses.com)
  • 15. Paget's disease of bone, osteogenesis imperfecta, and fibrous dysplasia. (nih.gov)
  • Bone diseases associated with an increased risk of osteosarcoma include Ollier's disease, osteogenesis imperfecta, polyostotic fibrous dysplasia, and Paget's disease. (dana-farber.org)
  • In addition, he serves as an associate investigator in a number of NIH institute and center protocols including research on osteogenesis imperfecta, polyostotic fibrous dysplasia, neonatal onset multisystem inflammatory disease, proteus syndrome, and neurofibromatosis type I. (nih.gov)
  • Diagnosis is based on typical appearances, predominantly at CT which also assists in differentiating fibrous dysplasia from other osteodystrophies of the skull base, including otosclerosis, osteogenesis imperfecta, Paget's disease, and osteopetrosis. (grayscalecourses.com)
  • Osteofibrous dysplasia and adamantinoma are typically tibial lesions. (orthopaedicsone.com)
  • Non-ossifying fibroma, fibrous cortical defects, and chondromyxoid fibroma are eccentric geographic lesions. (orthopaedicsone.com)
  • This technique is less important in assessment of solitary lesions but can add valuable information in the case of polyostotic involvement. (pdfslide.us)
  • Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. (wikipedia.org)
  • Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. (medlineplus.gov)
  • The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. (nih.gov)
  • Fibrous dysplasia happens when abnormal fibrous (scar-like) tissue replaces healthy bone. (nih.gov)
  • The fibrous tissue weakens the bone over time, which can lead to fractures (breaks) and misshapen bones. (nih.gov)
  • Instead, they produce abnormal fibrous tissue in certain bones. (nih.gov)
  • Bone pain, which may happen because of fractures or fibrous tissue changes in the bones. (nih.gov)
  • 4,5 This results in increased intracellular levels of cAMP in bone forming cells, leading to replacement of lamellar bone with ill-woven, under mineralized (fibrous) tissue of poor quality, associated with clinical manifestations of pain, deformity and pathological fractures. (5dok.net)
  • Fibrous dysplasia (FD) is a benign lesion characterized by replacement of normal bone with abnormal connective tissue. (jbstjournal.com)
  • Fibrous Dysplasia (FD) of bone is a benign not hereditary congenital disorder of medullary bone maintenace in which bone undergoing physiologic lysis is replaced by abnormal proliferation of fibrous tissue, resulting in assymmetric distortion and expantion of bone. (rmmg.org)
  • Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. (nih.gov)
  • Fibrous dysplasia is a genetic, not inheritable, rare bone disorder that was first described in the late nineteen-thirties. (5dok.net)
  • Beckwith-Wiedemann syndrome an inherited disorder characterized by exomphalos, macroglossia, and gigantism, often associated with visceromegaly, adrenocortical cytomegaly, and dysplasia of the renal medulla. (topgrowupclinic.eu)
  • Melorheostosis is a rare disorder characterized by mesodermal dysplasia of bone. (jocr.co.in)
  • background: Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical options. (5dok.net)
  • conclusion: Our data show that fibrous dysplasia of the proximal femur can be adequately and safely treated with angled blade plates or intramedullary nails, provided that these are used according to specific characteristics of the individual patient. (5dok.net)
  • Based on published literature and our own experience, we propose an individualized, patient-tailored approach for the surgical management of fibrous dysplasia of the proximal femur. (5dok.net)
  • The surgical management of fibrous dysplasia of the proximal femur has been particularly challenging due to the high load of mechanical forces acting on this bone. (5dok.net)
  • Mazabraud syndrome consists of fibrous dysplasia (usually polyostotic form) with multiple intramuscular myxomas affecting the same anatomical region. (webpathology.com)
  • The bony abnormalities are called polyostotic fibrous dysplasia, or ineffective growth in multiple bones. (drgreene.com)
  • Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. (medlineplus.gov)
  • Other people may have multiple affected bones (polyostotic) and experience more symptoms. (nih.gov)
  • It may be confined to a single bone (monostotic) or involve several bones (polyostotic). (rmmg.org)
  • 1. [Case of Paget's disease, simulating polyostotic fibrous dysplasia]. (nih.gov)
  • 6. Imaging of Paget's disease and fibrous dysplasia of bone. (nih.gov)
  • 7. Paget's disease and fibrous dysplasia. (nih.gov)
  • 9. Coexisting polyostotic fibrous dysplasia and Paget's disease. (nih.gov)
  • 14. [Fibrous dysplasia: differential diagnosis from Paget's disease]. (nih.gov)
  • In cases where polyostotic fibrous dysplasia (PFD) is marked, multiple pathologic fractures are prominent early in the history (usually in childhood). (medscape.com)
  • Fibrous dysplasia of bone (FD) is a rare disease responsible for bone deformities, fractures, nerve compression and bone pain. (biomedcentral.com)
  • Definition: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC). (doctorinternet.com)
  • Melorheostosis( synonyms: candle bone disease, melting wax syndrome, Leri disease), first described by Leri and Joanny in 1922[1] , is a rare benign sclerosing bone dysplasia. (jocr.co.in)
  • This worsening may be due to the trophic effects of estrogen on fibrous dysplastic bone, which does possess estrogen receptors. (medscape.com)
  • The appearances are diagnostic of fibrous dysplasia of the left temporal bone. (grayscalecourses.com)
  • Q78.1 is a billable diagnosis code used to specify a medical diagnosis of polyostotic fibrous dysplasia. (icdlist.com)
  • 2. [Diagnosis of fibrous dysplasia]. (nih.gov)
  • Bone abnormalities (fibrous dysplasia) are sometimes removed with surgery. (nih.gov)
  • Dennis had a rare condition called McCune-Albright's polyostotic fibrous dysplasia. (drgreene.com)
  • Fibrous dysplasia is suspected by multiple bone involvement, deformities, and ground glass appearance. (orthopaedicsone.com)
  • It occurs in monostotic or polyostotic forms, with a rare but proven potential for malignant transformation. (jbstjournal.com)
  • 4. Mardekian SK, Tuluc M. Malignant sarcomatous transformation of fibrous dysplasia. (jbstjournal.com)
  • 10. Hatano H, Morita T, Arllzumi T, Kawashima H, Ogose A. Malignant transformation of fibrous dysplasia: A case report. (jbstjournal.com)
  • Fibrous Dysplasia, Polyostotic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)
  • The main skeletal feature is fibrous dysplasia, which ranges in severity and can cause various complications. (nih.gov)
  • One of the most common complications of fibrous dysplasia of bone (FD) is bone pain. (biomedcentral.com)
  • 20. [Paget disease or fibrous dysplasia of the radius? (nih.gov)
  • Fibrous dysplasia is not common, but anyone can develop the disease. (nih.gov)
  • People with a milder form of the disease may not have any symptoms and do not learn they have fibrous dysplasia until they have an x-ray for another reason. (nih.gov)
  • 11. Five polyostotic conditions that general orthopedic surgeons should recognize (or should not miss). (nih.gov)
  • however, they have identified the gene and continue to study why fibrous dysplasia develops. (nih.gov)
  • Locally aggressive fibrous dysplasia mimicking malignancy: A report of four cases and review of the literature. (jbstjournal.com)
  • 7. Chapurlat RD, Gensburger D, Jimenez-Andrade JM, Ghilardi JR, Kelly M, Mantyh P. Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. (jbstjournal.com)
  • 17. [Positive scintigraphic representation of single bone fibrous dysplasia of the frontal bone]. (nih.gov)
  • This means fibrous dysplasia does not spread from one bone to another. (nih.gov)