Rare Diseases Congress 2018

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Rare Dermatology Diseases

August 04, 2018

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. Unf

Aarskog Syndrome

July 13, 2018

Aarskog Syndrome Aarskog syndrome is 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 chr

Rare Blood Diseases

June 15, 2018

Buerger disease Buerger’s disease , also called thromboangiitis obliterans. Buerger's disease is a rare disease of the arteries and veins in the arms and legs; it is an inflammation of small - 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 eventually damages or destroys skin tissues and may lead to contamination and gangrene. Buerger's disease usually first appears in your hands and feet and may eventually affect central regions of your arms and legs. Buerger disease always happens in individuals who use tobacco, but it isn't known exactly how tobacco plays a part within the improvement of the disease . A few people may have a hereditary predisposition to Buerg

Rare Neurological Disorders

June 09, 2018

Rare Neurological Disorders Creutzfeldt-Jakob disease (CJD) is a rare , degenerative, lethal brain disorder . CDJ is caused by an infectious agent called prions that results in rapid degeneration of the host’s brain tissue. It influences around one individual in every one million per year worldwide ; in the United 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 disease similar to CJD called bovine spongiform encephalopathy (BSE) or, commonly, “mad cow” disease. Causes can be sporadic , inherited , or acquired . It mostly affects individuals over the age of 60 years , and it is rare in individuals under 30 years old. CJD gradually destroys brain cells

Rare Oral Diseases

June 02, 2018

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

Rare Undiagnosed Day

April 28, 2018

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 29 th each year. Its objective: to raise awareness for those l

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