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Rare Autoimmune Diseases

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Scleroderma

Sclerodermais considered anautoimmune rheumatic disease, refers to a range of disorders in which the skin and connective tissues tighten and harden and a connective tissue disorder. It is a long-term, progressive disease. Scleroderma is not contagious, infectious, cancerous or malignant. Reason behind this diseases is our immune system, which causes the body to make too much of the protein collagen, in which the skin gets thick and tight, and scars can form on lungs and kidneys. The blood vessels became thicken and not work the way they should. This leads to tissue damage and high blood pressure. Types of Scleroderma 1. Localised scleroderma (affects the skin) 2. Systemic sclerosis – (affect blood circulation and internal organs as well as the skin) vLocalised sclerodermas are of 2 types. ·Morphea: Symptoms include oval-shaped patches on the skin, the shapes have a                     purple border, and they are white in the middle. ·Linear scleroder…

Rare Dermatology Diseases

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Argyria Argyria is a rare skin condition that can happen if silver builds up in your body over a long time. It results from prolonged contact with or ingestion of silver salts. It can turn your skin, eyes, nails, and internal organs a blue-gray color, particularly in areas of your body exposed to sunlight.The indications may begin in your mouth; along with your gums turning gray-brown. Silver may be stored within the skin either from industrial exposure or as a result of medications containing silver salts. As Argyria is a rare disease, it is unfamiliarity with this condition may lead to its misdiagnosis. Using laser treatment for argyria is constrained, Argyria has no cure. However, recent trials with laser treatment are demonstrating to be promising for making a difference with the skin discoloration. Benefits have been seen with fair one treatment. Diagnosis of argyria is built up by skin biopsy. Unfortunately, the pigmentation is lasting and nearly untreatable. So more research is…

Aarskog Syndrome

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Aarskog Syndrome
Aarskog syndromeis a rare genetic condition, also known as faciogenital dysplasia characterized by short stature, hypertelorism, multiple facial, brachydactyly limb and genital abnormalities, shawl scrotum, Additionally, some types of cognitive disorders may occasionally be present, although there is wide ,phenotypic variability.Still now, the FGD1 gene on the X chromosome is the only gene known to be related with Aarskog disorder. Aarskog syndrome essentially influences males. Males have 1 X chromosome, the male child of a mother who having the hereditary defect will likely have Aarskog disorder. Males with Aarskog syndrome regularly have a rounded face with a wide forehead. Additional characteristic features incorporate broadly spaced eyes, hanging of the eyelids, a little nose with nostrils that are flared forward, an underdeveloped upper jawbone, and a widow’s peak.But females have two X chromosomes. If one of the chromosomes carries the de…

Rare Blood Diseases

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Buerger disease
Buerger’s disease, also called thromboangiitis obliterans. Buerger's diseaseis a rare disease of the arteries and veins in the arms and legs; it is aninflammationofsmall- and medium-sized blood vessels. In this disease, your blood vessels become inflamed, swell and can become blocked with blood clots. The disease is found worldwide and can affect people of any race and age group. This eventuallydamages or

Rare Neurological Disorders

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                                              Rare Neurological Disorders
Creutzfeldt-Jakob disease (CJD) is arare, degenerative, lethal brain disorder. CDJ is caused by an infectiousagent called prions that results in rapid degeneration of the host’s brain tissue. It influencesaround one individual in every one million per year worldwide; in theUnited States there are approximately 350 cases per year.  CJD will have symptoms like ataxia, or difficulty controlling body movements, abnormal gait, speech, and dementia etc.
A type of CJD called variation CJD (or vCJD),a diseasesimilar to CJD called bovine spongiform encephalopathy (BSE) or, commonly, “mad cow” disease. Causes can be sporadic, inherited, or acquired. It mostlyaffectsindividuals over the age of 60 years, and it is rare in individualsunder 30 years old. CJD gradually destroys brain cells, and it causes tiny holes in the brain
There are three major categories of CJD.
•  In sporadic CJD, the infection appears even though the indi…

Rare Oral Diseases

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Rare Oral Diseases
Rare Oral abnormalities are dysfunctions and diseases of oral tissues and dentition caused by defective genes. Many genetic oral diseases indicate more complex disorders and are linked to inherited traits and defects, or result from spontaneous genetic mutations. Appropriate formation of the skeleton and dentition requires integration of various processes starting in early embryonic development. These include patterning of the head, limbs, and dental elements, cell movement and expansion, separation to specialized cells, matrix secretion, bio mineralization of bones and teeth, and remodelling of bone. Types of Rare Oral Diseases 1. Hyperdontia:  This rare condition is affects approximately two percent of the population. In some cases, however, a person will grow extra teeth; this condition is known as hyperdontia. Those people affected with Hyperdontia typically have only one extra tooth that is usually located behindthe upper, front teeth. …

Rare Undiagnosed Day

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Undiagnosed Rare Disease 

Undiagnosed’ refers to a disease for which a diagnostic test isn't however accessible; the disease has not been characterised and the cause isn't however recognized. This patient can also be misdiagnosed as the condition can be mistaken for others. These conditions are too likely to be rare. Rare diseases affect an estimated 2-4% of the population. A likely next step is whole genome sequencing, a diagnostic technique that over the last decade has significantly bolstered the effort to identify undiscovered diseases. A different approach is to search for patients with similar hereditary abnormalities and similar side effects. Determining the cause of a disease is often a victory in its own right for people who’ve spent years trying to figure out what’s wrong with their bodies.
For awareness among people we celebrated Rare undiagnosed Day on April 29th each year. Its objective: to raise awareness for those living with undiagnosed diseases, and the emotion…