Pseudoxanthoma Elasticum
Multidrug Resistance-Associated Proteins
Elastic Tissue
Connective Tissue
ATP-Binding Cassette Transporters
Umbilicus
Animal Nutrition Sciences
alpha-2-HS-Glycoprotein
Vitamin K
Magnesium Oxide
Vibrissae
Carbon-Carbon Ligases
Coagulation Protein Disorders
Chromosomes, Human, Pair 16
Minerals
Skin
Skin Diseases
Pseudoxanthoma elasticum with dipyridamole-induced coronary artery spasm: a case report. (1/141)
In patients with pseudoxanthoma elasticum, severe organic coronary artery stenosis often occurs without coronary risk factors. However, this report presents the case of a 49-year-old woman with pseudoxanthoma elasticum who had coronary artery spasm with an angiographically normal coronary artery. In addition, coronary artery spasm was provoked with dipyridamole thallium-201 cardiac imaging. (+info)Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE). (2/141)
Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disease, whose gene and pathogenesis are still unknown. Dermal fibroblasts from patients affected by PXE have been compared in vitro with fibroblasts taken from sex and age-matched normal individuals. Cells were grown and investigated in monolayer, into three-dimensional collagen gels and in suspension. Compared with normal cells, PXE fibroblasts cultured in monolayer entered more rapidly within the S phase and exhibited an increased proliferation index; on the contrary, similarly to normal fibroblasts, PXE cells did not grow in suspension. Furthermore, compared with normal fibroblasts, PXE cells exhibited lower efficiency in retracting collagen type I lattices and lower adhesion properties to collagen type I and to plasma fibronectin. This behavior was associated with higher expression of integrin subunits alpha2, alpha5, alphav, whereas beta1 subunit as well as alpha2beta1 and alpha5beta1 integrin expression was lower than in controls. Compared to controls, PXE fibroblasts had higher CAM protein expression in accordance with their high tendency to form cellular aggregates, when kept in suspension. The demonstration that PXE fibroblasts have altered cell-cell and cell-matrix interactions, associated with modified proliferation capabilities, is consistent with the hypothesis that the gene responsible for PXE might have a broad regulatory role on the cellular machinery. (+info)Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. (3/141)
Pseudoxanthoma elasticum (PXE), the prototypic heritable connective tissue disorder affecting the elastic structures in the body, manifests with cutaneous, ophthalmologic, and cardiovascular findings, with considerable morbidity and mortality. The molecular basis of PXE has remained unknown, but the disease locus has recently been mapped to an approximately 500-kb interval on chromosome 16p13.1, without evidence for locus heterogeneity. In this study, we report pathogenetic mutations in MRP6, a member of the ABC transporter gene family, in eight kindreds with PXE. The mutation detection strategy consisted of heteroduplex scanning of coding sequences in the MRP6 gene, which were amplified by PCR by using genomic DNA as template, followed by direct nucleotide sequencing. A total of 13 mutant MRP6 alleles were disclosed in the eight probands with PXE. These genetic lesions consisted of either single base pair substitutions resulting in missense, nonsense, or splice site mutations, or large deletions resulting in allelic loss of the MRP6 locus. Examination of clinically unaffected family members in four multiplex families identified heterozygous carriers, consistent with an autosomal recessive inheritance pattern. Collectively, identification of mutations in the MRP6 gene provides the basis to examine the pathomechanisms of PXE and allows development of DNA-based carrier detection, prenatal testing, and preimplantation genetic diagnosis in families with a history of this disease. (+info)Acute aortic valvular regurgitation secondary to avulsion of aortic valve commissure in a patient with pseudoxanthoma elasticum. (4/141)
A 68-year-old woman developed acute pulmonary edema due to severe acute aortic valvular regurgitation. At the time of emergency surgery, it turned out to result from spontaneous avulsion of the aortic valve commissure. Later, the patient was diagnosed to have pseudoxanthoma elasticum based on typical skin lesions. Connective tissue abnormalities associated with pseudoxanthoma elasticum might have contributed to the development of the avulsion of the aortic valve in this particular patient. (+info)Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. (5/141)
Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder affecting the elastic structures in the skin, eyes, and cardiovascular system, with considerable morbidity and mortality. Recently, mutations in the ABCC6 gene (also referred to as "MRP6" or "eMOAT") encoding multidrug-resistance protein 6 (MRP6), a putative transmembrane ABC transporter protein of unknown function, have been disclosed. Most of the genetic lesions delineated thus far consist of single-base-pair substitutions resulting in nonsense, missense, or splice-site mutations. In this study, we examined four multiplex families with PXE inherited in an autosomal recessive pattern. In each family, the proband was a compound heterozygote for a single-base-pair-substitution mutation and a novel, approximately 16.5-kb deletion mutation spanning the site of the single-base-pair substitution in trans. The deletion mutation was shown to extend from intron 22 to intron 29, resulting in out-of-frame deletion of 1,213 nucleotides from the corresponding mRNA and causing elimination of 505 amino acids from the MRP6 polypeptide. The deletion breakpoints were precisely the same in all four families, which were of different ethnic backgrounds, and haplotype analysis by 13 microsatellite markers suggested that the deletion had occurred independently. Deletion breakpoints within introns 22 and 29 were embedded within AluSx repeat sequences, specifically in a 16-bp segment of DNA, suggesting Alu-mediated homologous recombination as a mechanism. (+info)Angioid streaks and traumatic ruptures of Bruch's membrane. (6/141)
Minor blunt trauma may cause typical haemorrhages and probably enlargement of breaks or new breaks in patients affected with the Groenblad-Strandberg syndrome. (+info)A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (7/141)
To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied. Thirty-six mutations were characterized, and, among these, 28 were novel variants (for a total of 43 PXE mutations known to date). Twenty-one alleles were missense variants, six were small insertions or deletions, five were nonsense, two were alleles likely to result in aberrant mRNA splicing, and two were large deletions involving ABCC6. Although most mutations appeared to be unique variants, two disease-causing alleles occurred frequently in apparently unrelated individuals. R1141X was found in our patient cohort at a frequency of 18.8% and was preponderant in European patients. ABCC6del23-29 occurred at a frequency of 12.9% and was prevalent in patients from the United States. These results suggested that R1141X and ABCC6del23-29 might have been derived regionally from founder alleles. Putative disease-causing mutations were identified in approximately 64% of the 244 chromosomes studied, and 85.2% of the 122 patients were found to have at least one disease-causing allele. Our results suggest that a fraction of the undetected mutant alleles could be either genomic rearrangements or mutations occurring in noncoding regions of the ABCC6 gene. The distribution pattern of ABCC6 mutations revealed a cluster of disease-causing variants within exons encoding a large C-terminal cytoplasmic loop and in the C-terminal nucleotide-binding domain (NBD2). We discuss the potential structural and functional significance of this mutation pattern within the context of the complex relationship between the PXE phenotype and the function of ABCC6. (+info)Compressibility of the carotid artery in patients with pseudoxanthoma elasticum. (8/141)
The arterial wall has generally been considered as noncompressible in in vitro studies. However, compressibility of the arterial wall (CAW) has never been studied in vivo in humans. Large interstitial proteoglycans play a major role in sustaining the compression generated by pulsatile forces. The aims of the present study were to develop an experimental methodology for the assessment of CAW in vivo in humans and to study CAW in patients with pseudoxanthoma elasticum (PXE), a genetic disease characterized by proteoglycan accumulation and fragmented, swollen, and calcified elastic fibers in connective tissues. We studied 19 female patients with PXE and 15 normal female control subjects matched for age and blood pressure. A high-resolution echo-tracking system was used for the continuous determination of internal diameter and wall thickness at the site of the common carotid artery. Matrices of the radiofrequency signal were analyzed with a dedicated software to measure carotid wall cross-sectional area every 4 milliseconds during 4 to 6 cardiac cycles. CAW was calculated as the stroke change in cross-sectional area. CAW was 44% higher in patients with PXE than in control subjects (6.8+/-2.6% versus 4.7+/-2.7%, respectively; P<0.05). In control subjects, CAW decreased with age in a linear manner (r=-0.75, P<0.01). In PXE patients, the relationship with age was not homogeneous: CAW tended to increase with age before 40 years (P=0.07) and significantly decreased with age in older patients (P<0.01). Carotid geometry and elastic properties did not differ between PXE patients and control subjects. In conclusion, CAW was measurable in vivo and noninvasively in humans. The higher CAW of PXE patients compared with that of control subjects suggests that proteoglycans are important determinants of compressibility. (+info)Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder characterized by the calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system. This causes changes in these tissues, leading to the clinical features of the disease. In the skin, this manifests as yellowish papules and plaques, often located on the neck, axillae, and flexural areas. In the eyes, it can cause angioid streaks, peau d'orange, and choroidal neovascularization, potentially leading to visual loss. In the cardiovascular system, calcification of the elastic fibers in the arterial walls can lead to premature atherosclerosis and increased risk of cardiovascular events. The disease is caused by mutations in the ABCC6 gene.
Angioid streaks are abnormal, jagged lines or cracks in the delicate tissue at the back of the eye called the retina. These streaks typically occur near the optic nerve and radiate outward toward the edges of the retina. They are caused by degeneration of the underlying tissue, called Bruch's membrane, which separates the retina from the choroid, a layer of blood vessels that provides nutrients to the retina.
Angioid streaks are often associated with various medical conditions, including pseudoxanthoma elasticum, Paget's disease of bone, Ehlers-Danlos syndrome, and sickle cell anemia. They can also be a complication of cataract surgery or other eye trauma.
While angioid streaks themselves do not cause vision loss, they can lead to serious complications such as retinal hemorrhage, scarring, and detachment, which can result in significant vision loss if left untreated. Regular eye examinations are recommended for individuals with angioid streaks to monitor for any changes or complications that may require treatment.
Multidrug Resistance-Associated Proteins (MRPs) are a subfamily of ATP-binding cassette (ABC) transporter proteins that play a crucial role in the efflux of various substrates, including drugs and organic anions, out of cells. They are located in the plasma membrane of many cell types, including epithelial cells in the liver, intestine, kidney, and blood-brain barrier.
MRPs are known to transport a wide range of molecules, such as glutathione conjugates, bilirubin, bile acids, and various clinical drugs. One of the most well-known MRPs is MRP1 (ABCC1), which was initially identified in drug-resistant tumor cells. MRP1 can confer resistance to chemotherapeutic agents by actively pumping them out of cancer cells, thereby reducing their intracellular concentration and effectiveness.
The activity of MRPs can have significant implications for the pharmacokinetics and pharmacodynamics of drugs, as they can affect drug absorption, distribution, metabolism, and excretion (ADME). Understanding the function and regulation of MRPs is essential for developing strategies to overcome multidrug resistance in cancer therapy and optimizing drug dosing regimens in various clinical settings.
Elastic tissue is a type of connective tissue found in the body that is capable of returning to its original shape after being stretched or deformed. It is composed mainly of elastin fibers, which are protein molecules with a unique structure that allows them to stretch and recoil. Elastic tissue is found in many areas of the body, including the lungs, blood vessels, and skin, where it provides flexibility and resilience.
The elastin fibers in elastic tissue are intertwined with other types of connective tissue fibers, such as collagen, which provide strength and support. The combination of these fibers allows elastic tissue to stretch and recoil efficiently, enabling organs and tissues to function properly. For example, the elasticity of lung tissue allows the lungs to expand and contract during breathing, while the elasticity of blood vessels helps maintain blood flow and pressure.
Elastic tissue can become less flexible and resilient with age or due to certain medical conditions, such as emphysema or Marfan syndrome. This can lead to a variety of health problems, including respiratory difficulties, cardiovascular disease, and skin sagging.
Connective tissue is a type of biological tissue that provides support, strength, and protection to various structures in the body. It is composed of cells called fibroblasts, which produce extracellular matrix components such as collagen, elastin, and proteoglycans. These components give connective tissue its unique properties, including tensile strength, elasticity, and resistance to compression.
There are several types of connective tissue in the body, each with its own specific functions and characteristics. Some examples include:
1. Loose or Areolar Connective Tissue: This type of connective tissue is found throughout the body and provides cushioning and support to organs and other structures. It contains a large amount of ground substance, which allows for the movement and gliding of adjacent tissues.
2. Dense Connective Tissue: This type of connective tissue has a higher concentration of collagen fibers than loose connective tissue, making it stronger and less flexible. Dense connective tissue can be further divided into two categories: regular (or parallel) and irregular. Regular dense connective tissue, such as tendons and ligaments, has collagen fibers that run parallel to each other, providing great tensile strength. Irregular dense connective tissue, such as the dermis of the skin, has collagen fibers arranged in a more haphazard pattern, providing support and flexibility.
3. Adipose Tissue: This type of connective tissue is primarily composed of fat cells called adipocytes. Adipose tissue serves as an energy storage reservoir and provides insulation and cushioning to the body.
4. Cartilage: A firm, flexible type of connective tissue that contains chondrocytes within a matrix of collagen and proteoglycans. Cartilage is found in various parts of the body, including the joints, nose, ears, and trachea.
5. Bone: A specialized form of connective tissue that consists of an organic matrix (mainly collagen) and an inorganic mineral component (hydroxyapatite). Bone provides structural support to the body and serves as a reservoir for calcium and phosphate ions.
6. Blood: Although not traditionally considered connective tissue, blood does contain elements of connective tissue, such as plasma proteins and leukocytes (white blood cells). Blood transports nutrients, oxygen, hormones, and waste products throughout the body.
ATP-binding cassette (ABC) transporters are a family of membrane proteins that utilize the energy from ATP hydrolysis to transport various substrates across extra- and intracellular membranes. These transporters play crucial roles in several biological processes, including detoxification, drug resistance, nutrient uptake, and regulation of cellular cholesterol homeostasis.
The structure of ABC transporters consists of two nucleotide-binding domains (NBDs) that bind and hydrolyze ATP, and two transmembrane domains (TMDs) that form the substrate-translocation pathway. The NBDs are typically located adjacent to each other in the cytoplasm, while the TMDs can be either integral membrane domains or separate structures associated with the membrane.
The human genome encodes 48 distinct ABC transporters, which are classified into seven subfamilies (ABCA-ABCG) based on their sequence similarity and domain organization. Some well-known examples of ABC transporters include P-glycoprotein (ABCB1), multidrug resistance protein 1 (ABCC1), and breast cancer resistance protein (ABCG2).
Dysregulation or mutations in ABC transporters have been implicated in various diseases, such as cystic fibrosis, neurological disorders, and cancer. In cancer, overexpression of certain ABC transporters can contribute to drug resistance by actively effluxing chemotherapeutic agents from cancer cells, making them less susceptible to treatment.
The umbilicus, also known as the navel, is the scar left on the abdominal wall after the removal of the umbilical cord in a newborn. The umbilical cord connects the developing fetus to the placenta in the uterus during pregnancy, providing essential nutrients and oxygen while removing waste products. After birth, the cord is clamped and cut, leaving behind a small stump that eventually dries up and falls off, leaving the umbilicus. In adults, it typically appears as a slight depression or dimple on the abdomen.
Animal nutrition sciences is a field of study that focuses on the nutritional requirements, metabolism, and digestive processes of non-human animals. It involves the application of basic scientific principles to the practice of feeding animals in order to optimize their health, growth, reproduction, and performance. This may include the study of various nutrients such as proteins, carbohydrates, fats, vitamins, and minerals, as well as how they are absorbed, utilized, and excreted by different animal species. The field also encompasses the development and evaluation of animal feeds and feeding strategies, taking into account factors such as animal age, sex, weight, production stage, and environmental conditions. Overall, the goal of animal nutrition sciences is to promote sustainable and efficient animal agriculture while ensuring the health and well-being of animals.
Alpha-2-HS-Glycoprotein (AHSG), also known as fetuin-A, is a plasma protein synthesized primarily in the liver. It belongs to the group of proteins called acute phase reactants, which means its levels can increase or decrease in response to inflammation or injury. AHSG plays a role in several physiological processes, including inhibition of tissue calcification, regulation of insulin sensitivity, and modulation of immune responses. Structurally, it is a glycoprotein with two homologous domains, each containing three disulfide bridges. The function and regulation of AHSG are subjects of ongoing research due to its potential implications in various diseases, such as diabetes, cardiovascular disease, and chronic kidney disease.
Calcinosis is a medical condition characterized by the abnormal deposit of calcium salts in various tissues of the body, commonly under the skin or in the muscles and tendons. These calcium deposits can form hard lumps or nodules that can cause pain, inflammation, and restricted mobility. Calcinosis can occur as a complication of other medical conditions, such as autoimmune disorders, kidney disease, and hypercalcemia (high levels of calcium in the blood). In some cases, the cause of calcinosis may be unknown. Treatment for calcinosis depends on the underlying cause and may include medications to manage calcium levels, physical therapy, and surgical removal of large deposits.
Vitamin K is a fat-soluble vitamin that plays a crucial role in blood clotting and bone metabolism. It is essential for the production of several proteins involved in blood clotting, including factor II (prothrombin), factor VII, factor IX, and factor X. Additionally, Vitamin K is necessary for the synthesis of osteocalcin, a protein that contributes to bone health by regulating the deposition of calcium in bones.
There are two main forms of Vitamin K: Vitamin K1 (phylloquinone), which is found primarily in green leafy vegetables and some vegetable oils, and Vitamin K2 (menaquinones), which is produced by bacteria in the intestines and is also found in some fermented foods.
Vitamin K deficiency can lead to bleeding disorders such as hemorrhage and excessive bruising. While Vitamin K deficiency is rare in adults, it can occur in newborns who have not yet developed sufficient levels of the vitamin. Therefore, newborns are often given a Vitamin K injection shortly after birth to prevent bleeding problems.
Magnesium oxide is an inorganic compound with the chemical formula MgO. It is a white, odorless solid that is highly basic and stable. Medically, magnesium oxide is used as a dietary supplement to prevent or treat low amounts of magnesium in the blood. It is also used as a antacid to neutralize stomach acid and as a laxative to relieve constipation.
Vibrissae are stiff, tactile hairs that are highly sensitive to touch and movement. They are primarily found in various mammals, including humans (in the form of eyelashes and eyebrows), but they are especially prominent in certain animals such as cats, rats, and seals. These hairs are deeply embedded in skin and have a rich supply of nerve endings that provide the animal with detailed information about its environment. They are often used for detecting nearby objects, navigating in the dark, and maintaining balance.
Carbon-carbon ligases are a type of enzyme that catalyze the formation of carbon-carbon bonds between two molecules. These enzymes play important roles in various biological processes, including the biosynthesis of natural products and the metabolism of carbohydrates and lipids.
Carbon-carbon ligases can be classified into several categories based on the type of reaction they catalyze. For example, aldolases catalyze the condensation of an aldehyde or ketone with another molecule to form a new carbon-carbon bond and a new carbonyl group. Other examples include the polyketide synthases (PKSs) and nonribosomal peptide synthetases (NRPSs), which are large multienzyme complexes that catalyze the sequential addition of activated carbon units to form complex natural products.
Carbon-carbon ligases are important targets for drug discovery and development, as they play critical roles in the biosynthesis of many disease-relevant molecules. Inhibitors of these enzymes have shown promise as potential therapeutic agents for a variety of diseases, including cancer, infectious diseases, and metabolic disorders.
Coagulation protein disorders are a group of medical conditions that affect the body's ability to form blood clots properly. These disorders can be caused by genetic defects or acquired factors, such as liver disease or vitamin K deficiency.
The coagulation system is a complex process that involves various proteins called clotting factors. When there is an injury to a blood vessel, these clotting factors work together in a specific order to form a clot and prevent excessive bleeding. In coagulation protein disorders, one or more of these clotting factors are missing or not functioning properly, leading to abnormal bleeding or clotting.
There are several types of coagulation protein disorders, including:
1. Hemophilia: This is a genetic disorder that affects the clotting factor VIII or IX. People with hemophilia may experience prolonged bleeding after injuries, surgery, or dental work.
2. Von Willebrand disease: This is another genetic disorder that affects the von Willebrand factor, a protein that helps platelets stick together and form a clot. People with this condition may have nosebleeds, easy bruising, and excessive bleeding during menstruation or after surgery.
3. Factor XI deficiency: This is a rare genetic disorder that affects the clotting factor XI. People with this condition may experience prolonged bleeding after surgery or trauma.
4. Factor VII deficiency: This is a rare genetic disorder that affects the clotting factor VII. People with this condition may have nosebleeds, easy bruising, and excessive bleeding during menstruation or after surgery.
5. Acquired coagulation protein disorders: These are conditions that develop due to other medical factors, such as liver disease, vitamin K deficiency, or the use of certain medications. These disorders can affect one or more clotting factors and may cause abnormal bleeding or clotting.
Treatment for coagulation protein disorders depends on the specific condition and severity of symptoms. In some cases, replacement therapy with the missing clotting factor may be necessary to prevent excessive bleeding. Other treatments may include medications to control bleeding, such as desmopressin or antifibrinolytic agents, and lifestyle changes to reduce the risk of injury and bleeding.
Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.
Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.
Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.
Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.
In the context of nutrition and health, minerals are inorganic elements that are essential for various bodily functions, such as nerve impulse transmission, muscle contraction, maintaining fluid and electrolyte balance, and bone structure. They are required in small amounts compared to macronutrients (carbohydrates, proteins, and fats) and are obtained from food and water.
Some of the major minerals include calcium, phosphorus, magnesium, sodium, potassium, and chloride, while trace minerals or microminerals are required in even smaller amounts and include iron, zinc, copper, manganese, iodine, selenium, and fluoride.
It's worth noting that the term "minerals" can also refer to geological substances found in the earth, but in medical terminology, it specifically refers to the essential inorganic elements required for human health.
In medical terms, the skin is the largest organ of the human body. It consists of two main layers: the epidermis (outer layer) and dermis (inner layer), as well as accessory structures like hair follicles, sweat glands, and oil glands. The skin plays a crucial role in protecting us from external factors such as bacteria, viruses, and environmental hazards, while also regulating body temperature and enabling the sense of touch.
Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).
Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.
Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.
Skin diseases, also known as dermatological conditions, refer to any medical condition that affects the skin, which is the largest organ of the human body. These diseases can affect the skin's function, appearance, or overall health. They can be caused by various factors, including genetics, infections, allergies, environmental factors, and aging.
Skin diseases can present in many different forms, such as rashes, blisters, sores, discolorations, growths, or changes in texture. Some common examples of skin diseases include acne, eczema, psoriasis, dermatitis, fungal infections, viral infections, bacterial infections, and skin cancer.
The symptoms and severity of skin diseases can vary widely depending on the specific condition and individual factors. Some skin diseases are mild and can be treated with over-the-counter medications or topical creams, while others may require more intensive treatments such as prescription medications, light therapy, or even surgery.
It is important to seek medical attention if you experience any unusual or persistent changes in your skin, as some skin diseases can be serious or indicative of other underlying health conditions. A dermatologist is a medical doctor who specializes in the diagnosis and treatment of skin diseases.
Fluorescein angiography is a medical diagnostic procedure used in ophthalmology to examine the blood flow in the retina and choroid, which are the inner layers of the eye. This test involves injecting a fluorescent dye, Fluorescein, into a patient's arm vein. As the dye reaches the blood vessels in the eye, a specialized camera takes rapid sequences of photographs to capture the dye's circulation through the retina and choroid.
The images produced by fluorescein angiography can help doctors identify any damage to the blood vessels, leakage, or abnormal growth of new blood vessels. This information is crucial in diagnosing and managing various eye conditions such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusions, and inflammatory eye diseases.
It's important to note that while fluorescein angiography is a valuable diagnostic tool, it does carry some risks, including temporary side effects like nausea, vomiting, or allergic reactions to the dye. In rare cases, severe adverse reactions can occur, so patients should discuss these potential risks with their healthcare provider before undergoing the procedure.
Pseudoxanthoma elasticum
Ehlers-Danlos syndromes
List of OMIM disorder codes
Félix Balzer
John Fisher Stokes
ABCC6
XYLT2
Calcitriol
De Barsy syndrome
Abdominal aortic aneurysm
Perforating calcific elastosis
Elastin
Buschke-Ollendorff syndrome
Elastic fiber
Elastosis perforans serpiginosa
Linear focal elastosis
Sharon F. Terry
Gamma-glutamyl carboxylase
XYLT1
Genetic Alliance
Myosin-11
Bruch's membrane
Angioid streaks
ACDC (medicine)
Peau d'orange
Monckeberg's arteriosclerosis
NOMO1
Generalized arterial calcification of infancy
Dystrophic calcification
Piet Borst
Pseudoxanthoma elasticum - Wikipedia
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ENPP1
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Progressing disorder with1
- The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical manifestations. (nih.gov)
ABCC67
- 80% of clinical cases of pseudoxanthoma elasticum have detectable mutations in the ABCC6 gene. (wikipedia.org)
- Pseudoxanthoma elasticum (PXE) is associated with mutations in the ABCC6 gene, which encodes an ATP-binding cassette transporter protein localized to the mitochondria-associated membrane (MAM). (medscape.com)
- The escalating cases of genetic mutations that affect the ABCC6 gene, resulting in the aberrant mineralization of connective tissues, mainly in the skin, eyes, and blood vessels, are primarily driving the pseudoxanthoma elasticum market. (imarcgroup.com)
- Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. (medscape.com)
- ABCC6 and ENPP1 GENE ANALYSIS IN PSEUDOXANTHOMA ELASTICUM Pseudoxanthoma Elasticum (PXE) is an autosomal recessive multisystem disorder characterised histologically by ectopic mineralisation and fragmentation of elastic fibres of soft connective tissues such as skin, retina and cardiovascular system. (exeterlaboratory.com)
- Pseudoxanthoma elasticum is characterized by progressive calcification and degeneration in elastic fibrils and is associated with the mutation in the gene encoding the ABCC6 (MRP6) transmembrane transport protein. (octclub.org)
- Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. (jefferson.edu)
Angioid streaks8
- Pseudoxanthoma elasticum and angioid streaks. (medscape.com)
- roughly 50% of patients with angioid streaks have pseudoxanthoma elasticum, whereas 85% of those with pseudoxanthoma have angioid streaks). (syrianclinic.com)
- Diagnosis This patient has angioid streaks on fundoscopy and 'chicken-skin' appearance in the neck and axillae (lesions) due to pseudoxanthoma elasticum (aetiology). (syrianclinic.com)
- What is the triad of pseudoxanthoma elasticum, angioid streaks and vascular abnormalities known as? (syrianclinic.com)
- Generally, the first signs of pseudoxanthoma elasticum are the asymptomatic cutaneous features and angioid streaks are the most frequent ocular findings. (octclub.org)
- Angioid streaks are gray-white lines with rupture of the thickened elastic fibers of Bruch's membrane extending radially from the optic disc and occur in 80% of patients with pseudoxanthoma elasticum. (octclub.org)
- Angioid streaks are not the pathognomonic sign of pseudoxanthoma elasticum and may occur due to Paget's disease, Marfan syndrome, Ehler-Danlos syndrom, sickle-cell anemia, and beta thalassemia. (octclub.org)
- Mirza E, Karanfil FC, Mirza GD, Choroidal neovascularization associated with angioid streaks in a patient with pseudoxanthoma elasticum. (octclub.org)
Cutaneous4
- An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. (medscape.com)
- The cutaneous and ocular findings of pseudoxanthoma elasticum are referred to as Grönblad-Strandberg syndrome. (naqlafshk.com)
- The cutaneous changes in pseudoxanthoma elasticum are distributed in the intertriginous areas of the body, such as the flexural regions of the extremities, in the folds of the skin at the sides of the neck, the cubital and popliteal fossa, the axilla, in the creases of the groin, and periumbilical area. (naqlafshk.com)
- Pseudoxanthoma elasticum (PXE) is an uncommon heritable disorder of elastin characterized by cutaneous, ocular and vascular abnormalities. (koreamed.org)
Calcification4
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by elastorrhexia, or progressive calcification and fragmentation, of elastic fibers primarily affecting the skin, the retina, and the cardiovascular system. (medscape.com)
- Pseudoxanthoma elasticum (PXE) is a rare progressive genetic disorder that causes the fragmentation and calcification of elastic fibers due to the accumulation of minerals in the connective tissue . (bredagenetics.com)
- Background and aims: In pseudoxanthoma elasticum (PXE), low levels of inorganic pyrophosphate result in extensive arterial calcification. (utwente.nl)
- Pseudoxanthoma elasticum is characterized by calcification of elastic fibres in skin, arteries and retina. (medicalimages.com)
Diagnosis1
- Diagnosis of pseudoxanthoma elasticum is based on clinical and histologic findings. (merckmanuals.com)
Disorder6
- Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. (medlineplus.gov)
- Pseudoxanthoma elasticum (PXE) refers to a rare hereditary disorder that primarily affects the elastic tissues in various parts of the body, particularly the skin, eyes, and blood vessels. (imarcgroup.com)
- Pseudoxanthoma elasticum (PXE) is a multisystemic genetic disorder that affects the connective tissue of various organs , including the skin, the retina, the gastrointestinal system and the cardiovascular system. (bredagenetics.com)
- Objectives: Pseudoxanthoma elasticum (PXE) is a rare inherited multisystem disorder that mainly affects skin, eyes and cardiovascular system. (unimore.it)
- Introduction & Objectives: Pseudoxanthoma elasticum (PXE) is a rare inherited multisystem disorder that mainly affects skin, eyes and cardiovascular system. (unimore.it)
- This research will aid ophthalmologists in measuring progression of the eye disorder Pseudoxanthoma Elasticum. (academictransfer.com)
Autosomal2
- [ 10 ] Current research supports a common (probably exclusive) autosomal recessive inheritance of pseudoxanthoma elasticum. (medscape.com)
- Pseudoxanthoma elasticum may be inherited through autosomal-dominant or autosomal-recessive patterns. (naqlafshk.com)
Systemic2
- Pseudoxanthoma elasticum (PXE) is an inherited systemic disease characterized by changes in the elastic tissue of the skin. (naqlafshk.com)
- To date, there is no effective treatment for pseudoxanthoma elasticum or specific therapies for the systemic complications of this disease. (octclub.org)
Pathognomonic1
- Which fundal finding is virtually pathognomonic of pseudoxanthoma elasticum? (syrianclinic.com)
Clinical1
- Pseudoxanthoma elasticum: A clinical and histopathological study. (medscape.com)
Affects the skin1
- Usually, pseudoxanthoma elasticum affects the skin first, often in childhood or early adolescence. (wikipedia.org)
Vascular1
- Pseudoxanthoma elasticum is a rare genetic, multisystemic disease which affects primarily the skin, the eyes, and the vascular system. (octclub.org)
Prevalence2
- Pseudoxanthoma elasticum has an estimated prevalence of 1 case per 25,000-100,000. (medscape.com)
- The prevalence of pseudoxanthoma elasticum is approximately 1:50000-200000. (octclub.org)
Choroidal2
- Choroidal neovascularization occurs in 42-84% of patients with pseudoxanthoma elasticum. (octclub.org)
- Nevertheless, intravitreal anti-VEGF injections have been performed to increase visual acuity in pseudoxanthoma elasticum complicated with choroidal neovascularization. (octclub.org)
Mineralization1
- Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. (wikipedia.org)
Yellowish1
- This photo shows yellowish bumps along the side of the neck in a person who has pseudoxanthoma elasticum, giving a "plucked chicken" appearance. (merckmanuals.com)
Extracutaneous1
- The prognosis of pseudoxanthoma elasticum (PXE) largely depends on the extent of extracutaneous organ involvement. (medscape.com)
Disease1
- Pseudoxanthoma elasticum (PXE) is the most common associated disease [ 4 ]. (hindawi.com)
Elastic tissue1
- Calcified elastic tissue is the hallmark of pseudo-xanthoma elasticum. (syrianclinic.com)
Progression1
- Other pathogenic variants we found were associated with pseudoxanthoma elasticum, cancer progression, polyagglutinable erythrocyte syndrome, preeclampsia, and others. (biomedcentral.com)
Accumulation1
- Pseudoxanthoma elasticum involves the accumulation of calcium and fragmentation of elastin -containing fibers in the connective tissue , and in the mid-sized arteries. (wikidoc.org)
Syndrome1
- Additionally, the emerging popularity of innovative approaches, including gene therapy, which involves the introduction of functional genetic material into affected cells to rectify or substitute the faulty genes responsible for the syndrome, is expected to drive the pseudoxanthoma elasticum market during the forecast period. (imarcgroup.com)
Patterns1
- Reticular-like pigmentary patterns in pseudoxanthoma elasticum. (medscape.com)
Historical1
- Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. (medscape.com)
Rare1
- Kenny is also an actor, but in recent times, he has been registered blind due to a rare hereditary condition PXE (pseudoxanthoma elasticum,) which affects around 1,500 people in the UK. (ok.co.uk)
Skin2
- however, pseudoxanthoma elasticum most commonly involves the elastic fibers of the mid and deep reticular dermis of skin, the Bruch membrane of the eye, and the blood vessels. (medscape.com)
- Pseudoxanthoma elasticum (chicken skin) in a 37-year-old woman. (medicalimages.com)
Treatment2
- According to the report the United States has the largest patient pool for pseudoxanthoma elasticum and also represents the largest market for its treatment. (imarcgroup.com)
- Pseudoxanthoma Elasticum: Diagnostic Features, Classification, and Treatment Options. (medscape.com)
Patients2
- Bleeding compli-cations can be prevented by avoiding aspirin in patients with pseudoxanthoma elasticum. (syrianclinic.com)
- Hocaoglu M, Karacorlu M, Sayman Muslubas I, Arf S, Ozdemir H, Uysal O. Visual impairment in pseudoxanthoma elasticum: a survey of 53 patients from Turkey. (octclub.org)
Report3
- IMARC Group's new report provides an exhaustive analysis of the pseudoxanthoma elasticum market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. (imarcgroup.com)
- This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the pseudoxanthoma elasticum market in any manner. (imarcgroup.com)
- This report also provides a detailed analysis of the current pseudoxanthoma elasticum marketed drugs and late-stage pipeline drugs. (imarcgroup.com)
Visual1
- What are the causes of visual loss in pseudoxanthoma elasticum? (syrianclinic.com)
People1
- People with pseudoxanthoma elasticum should avoid contact sports because of the risk of injury to the eye. (merckmanuals.com)
Years1
- p>Terry has devoted much of the 20 years since her children were diagnosed with pseudoxanthoma elasticum (PXE) to creating efficient, collaborative, scalable systems to accelerate research on genetic conditions. (rwjf.org)