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Doctor insights on: Symptoms Of Xeroderma Pigmentosum

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What are the common symptoms of retinitis pigmentosa?

What are the common symptoms of retinitis pigmentosa?

RP: The most common symptoms of retinitis pigmentosa is night blindness. As the disese progresses, the side vision and the central vision can also go. Early retinitis pigmentosa may be without symptoms. The disease is variable in presentation and progression. ...Read more

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Doctors, what are the symptoms of retinitis pigmentosa?

Night blindness: is the most common early symptom. Later overall reduction of vision occurs. ...Read more

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What are the symptoms of systemic lupus erythematosus?

What are the symptoms of systemic lupus erythematosus?

Many: People with lupus may have joint pain, skin rashes, chest pain, heart probelms, hair loss, fingers changing color in the cold, rash in the sunshine, neuro-psychologic problems. These are only soemof the symtpoms peopel can have. They can also have none of these. Your physician will evaluate all of these, get labs tests and imaging. ...Read more

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What are symptoms of actinic keratosis?

What are symptoms of actinic keratosis?

Actinic Keraotsis: Actinic keratoses arise in chronically sun exposed sites, such as the backs of the hands, forearms and face. They usually present as rough scaly or crusty slightly red bumps on the skin. Sometimes, these lesions can be felt more than they can be seen. A rough patch on a sun exposed area may all that you notice. ...Read more

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What are the symptoms of lichen amyloidosis?

What are the symptoms of lichen amyloidosis?

Itchy papules: ?his is the most common form of primary localised cutaneous amyloidosis. It presents as an intensely itchy rash on the shins, thighs, feet, and forearms. Lesions consist of multiple raised spots (papules) that are scaly and red/brown in color. More common in people of chinese descent and in males 50-60 yrs of age. It may be associated with multiple endocrine disorders. ...Read more

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Describe the features of autoimmune conditions.?

Describe the features of autoimmune conditions.?

Rogue warrior: Your immune system is supposed to fight infection and leave your body alone. For various reasons, sometimes, your immune system runs amok and damages healthy organs/tissues. Just about every part of the body can be harmed by auto-immune disease. Some auto-immune diseases are dangerous and must be treated with strong drugs to reduce immune function (which can lead to infection =( ). ...Read more

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What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia ?

What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia ?

Deficiency in some : part of cell mechanisms that detect & repair damage to DNA molecules that encode their genome occur in 5 inherited diseases: ataxia-telangiectasia (AT), Fanconi anemia, Bloom syndrome, Cockayne syndrome & Xeroderma Pigmentosum (XP).7 different mutant repair genes cause XP; types A, C, D & E are on Chromosome 9q.22. Mutations in ATM genes cause AT. Groups A,C,D & E are on Chromosome 11q2. ...Read more

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What are the symptoms of harlequin ichthyosis?

What are the symptoms of harlequin ichthyosis?

The worst form: The features of the sufferers are severe cranial and facial deformities. The ears may be very poorly developed or absent, also the nose. The eyelids are severely everted , which leaves the eyes and the area around them very susceptible to infection. They often bleed upon birth. The lips, pulled by the dry skin, are fixed into a wide grimace .Arms, feet, and fingers are almost always deformed ...Read more

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Any symptoms of tay-sachs disease?

Any symptoms of tay-sachs disease?

Several forms exists: Infantile form: child appear normal until the age of 3-6 mo, when their development slows & muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, seizures, vision&hearing loss, intellectual disabilities&paralysis may appear with abnormal eye exam. ...Read more

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What are some early symptoms of lupus sle?

What are some early symptoms of lupus sle?

Variable-see below: Sle (lupus) can begin suddenly or slowly. The most frequent early symptoms are fever, malaise, rash, joint pain, and joint swelling. Since this disease can affect the whole body, there can be symptoms from any body system, including heart, brain, lungs, kidneys, liver, eyes, and digestive tract.. If you or someone you know suspects lupus, please see a doctor very soon! ...Read more

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What are common symptoms of scleroderma?

What are common symptoms of scleroderma?

Skin changes: The first sign is usually patchy areas on the skin that often make a linear pattern. Early on, they are slightly pink and thickened, but can be flat and shiny. As time passes, the skin spots enlarge and often become thick and lavender/purple-colored, sometimes with pale flat centers. Scleroderma can also affect the heart, lung, kidney, joints, digestive tract. Please see your doctor if you're worried. ...Read more

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What are symptoms of lupus disease?

What are symptoms of lupus disease?

Variety of Symptoms: Lupus (sle) is an autoimmune disease that can effect essentially any organ in the body. Autoimmune means "friendly fire." the body's army is called the immune system. When it gets confused and attacks the body it leads to autoimmune diseases. Common symptoms of sle include: fatigue, joint pain, rashes, mouth sores, dry eyes and mouth, and depression. Every sle patient has unique symptoms. ...Read more

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What are the symptoms of discoid lupus? 

What are the symptoms of discoid lupus? 

Scarring rash: Lupus affects in the skin in discoid lupus and in some cases of sle. There is redness usually on the cheeks, nose , possibly ears and scalp. It can show broken blood vessels, depressed scars, and a purple border. Topical or injections of steroids are often helpful. In more severe case oral antimalarials are used. ...Read more

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Symptoms of nodular skin cancers?

Symptoms of nodular skin cancers?

Skin cancer: Nodular cancers can be pigmented or non pigmented. If pigmented- will need urgent attention as your doctor will need to rule out melanoma as they can be aggressive. Non pigmented still need to be seen as melanomas can be non pigmented in about 25% cases. Basal cell cancer and sq cell CA usually will resent with non healing lesions and then can ulcerate. See your doctor as they may be symptomless. ...Read more

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What are the symptoms of von recklinghausen's disease?

What are the symptoms of von recklinghausen's disease?

Tan/brown spots: Neurofibromatosis type 1 (von recklinghausen's) is diagnosed if the patient has two or more neurofibromas, six or more "cafe au lait" spots (>1.5 cm in adults), many freckles in the armpits, affected relative . Other diagnostic criteria require doctor: optic gliomas (tumors behind the eye), 2 or more lisch nodules (found in iris of eye), and certain bone lesions. 2 or more of above needed. ...Read more

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What are the symptoms of inherited emphysema?

What are the symptoms of inherited emphysema?

Alpha one?: Are you referring to alpha-1 antitrypsin deficiency? If so, the symptoms are basically the same as copd, they just occur at a younger age than expected (like 20-30s). Symptoms include cough, shortness of breath, wheezing, etc. If the person smokes, the disease is accelerated. Diagnosis is made via a blood test. Treatment includes enzyme replacement as well as usual COPD therapies. ...Read more

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What are some symptoms of lupus desease?

What are some symptoms of lupus desease?

Many things: Lupus can effect any organ, so many symptoms are possible with lupus. The most common are general symptoms of fatigue, malaise, low grade fevers, joint pain, and then specific organ symptoms such as rash, hair loss, arthritis, mouth ulcers, chest pain, breathing problems, lupus can be a very difficult disease to diagnosis because it has so many potential symptoms and presentations. ...Read more

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What are some symptoms of autoimmune diseases?

Difficult to know: There are many different autoimmune diseases, and each fits into separate categories. Many create arthritis, kidney failure, rashes, hepatitis, etc. You would be better off picking one illness and repeating your question. ...Read more

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What is xeroderma pigmentosum?

What is xeroderma pigmentosum?

Xeroderma pigmentosu: Xeroderma pigmentosum is a condition which makes people very sensitive to the sun (uv rays). It can cause severe sun burning & freckling of skin. It is called xeroderma because it can dry the skin out and pigmentosum because there is added skin pigment. It can affect the eyes and may be associated with a number of other symptoms. ...Read more

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What is the description, conditions, symtoms, risk factors & treatments assocated with discoid lupus?

Discoid Lupus (DLE): DLE is a chronic cutaneous autoimmune skin disorder characterized by DLE cerythematous-to-violaceous, scaly plaques with prominent follicular plugging that often results in scarring and atrophy (see the images below). DLE may occur in the absence of systemic disease, or it may occur in association with systemic lupus erythematosus (SLE). Read this:emedicine.medscape.com/article/1065529-overview ...Read more