List Of Systemic Diseases With Ocular Manifestations
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List Of Systemic Diseases With Ocular Manifestations
An ocular manifestation of a systemic disease is an eye condition that directly or indirectly results from a disease process in another part of the body. There are many diseases known to cause ocular or visual changes. Diabetes, for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more. Other diseases such as acquired immunodeficiency syndrome (AIDS) and hypertension are commonly found to have associated ocular symptoms. Systemic allergic diseases *Asthma * Atopic dermatitis *Atopic eczema * Hay fever *Urticaria *Vernal conjunctivitis Skin and mucous membrane diseases *Acne rosacea *Albinism * Atopic dermatitis *Behçet's disease *Cicatricial pemphigoid * Ehlers–Danlos syndrome *Epidermolysis bullosa *Erythema multiforme *Goltz–Gorlin syndrome *Ichthyosis *Incontinentia pigmenti *Nevus of Ota *Pemph ...
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Systemic Disease
A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. Examples * Mastocytosis, including mast cell activation syndrome and eosinophilic esophagitis * Chronic fatigue syndrome * Systemic vasculitis e.g. SLE, PAN * Sarcoidosis – a disease that mainly affects the lungs, brain, joints and eyes, found most often in young African-American women. * Hypothyroidism – where the thyroid gland produces too little thyroid hormones. * Diabetes mellitus – an imbalance in blood glucose (sugar) levels. * Fibromyalgia * Adrenal insufficiency – where the adrenal glands don't produce enough steroid hormones * Coeliac disease – an autoimmune disease triggered by gluten consumption, which may involve several organs and cause a variety of symptoms, or be completely asymptomatic. * Ulcerative colitis – an inflammatory bowel disease * Crohn's disease – an inflammatory bowel disease * Hypertension (high blood pressure) * Metabolic syndrome ...
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Pemphigoid
Pemphigoid is a group of rare autoimmune blistering diseases of the skin, and mucous membranes. As its name indicates, pemphigoid is similar in general appearance to pemphigus, but, unlike pemphigus, pemphigoid does not feature acantholysis, a loss of connections between skin cells. Pemphigoid is more common than pemphigus, and is slightly more common in women than in men. It is also more common in people aged over 70 years than it is in younger people. Classification IgG The forms of pemphigoid are considered to be connective tissue autoimmune skin diseases. There are several types: * Gestational pemphigoid (PG) (formerly called ''Herpes gestationis'') * Bullous pemphigoid (BP) Rarely affects the mouth * Mucous membrane pemphigoid (MMP) or (cicatricial pemphigoid), (No skin involvement) Bullous and mucous membrane pemphigoid usually affect persons who are over age 60. Gestational pemphigoid occurs during pregnancy, typically in the second or third trimester, or immediate ...
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Erythema Multiforme Major
Erythema multiforme major is a form of rash with skin loss or epidermal detachment. The term "erythema multiforme majus" is sometimes used to imply a bullous (blistering) presentation. According to some sources, there are two conditions included on a spectrum of this same disease process: * Stevens–Johnson syndrome (SJS) * Toxic epidermal necrolysis Toxic epidermal necrolysis (TEN) is a type of severe skin reaction. Together with Stevens–Johnson syndrome (SJS) it forms a spectrum of disease, with TEN being more severe. Early symptoms include fever and flu-like symptoms. A few days later ... (TEN) which described by Alan Lyell and previously called Lyell syndrome In this view, EM major, SJS and TEN are considered a single condition, distinguished by degree of epidermal detachment. However, a consensus classification separates erythema multiforme minor, erythema multiforme major, and SJS/TEN as three separate entities. References 5. Orphanet Journal of Rare Diseases ...
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Stevens–Johnson Syndrome
Stevens–Johnson syndrome (SJS) is a type of severe skin reaction. Together with toxic epidermal necrolysis (TEN) and Stevens–Johnson/toxic epidermal necrolysis (SJS/TEN), it forms a spectrum of disease, with SJS being less severe. Erythema multiforme (EM) is generally considered a separate condition. Early symptoms of SJS include fever and flu-like symptoms. A few days later, the skin begins to blister and peel, forming painful raw areas. Mucous membranes, such as the mouth, are also typically involved. Complications include dehydration, sepsis, pneumonia and multiple organ failure. The most common cause is certain medications such as lamotrigine, carbamazepine, allopurinol, sulfonamide antibiotics and nevirapine. Other causes can include infections such as ''Mycoplasma pneumoniae'' and cytomegalovirus, or the cause may remain unknown. Risk factors include HIV/AIDS and systemic lupus erythematosus. The diagnosis of Stevens–Johnson syndrome is based on involvement of les ...
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Psoriasis
Psoriasis is a long-lasting, noncontagious autoimmune disease characterized by raised areas of abnormal skin. These areas are red, pink, or purple, dry, itchy, and scaly. Psoriasis varies in severity from small, localized patches to complete body coverage. Injury to the skin can trigger psoriatic skin changes at that spot, which is known as the Koebner phenomenon. The five main types of psoriasis are plaque, guttate, inverse, pustular, and erythrodermic. Plaque psoriasis, also known as psoriasis vulgaris, makes up about 90% of cases. It typically presents as red patches with white scales on top. Areas of the body most commonly affected are the back of the forearms, shins, navel area, and scalp. Guttate psoriasis has drop-shaped lesions. Pustular psoriasis presents as small, noninfectious, pus-filled blisters. Inverse psoriasis forms red patches in skin folds. Erythrodermic psoriasis occurs when the rash becomes very widespread, and can develop from any of the other types. ...
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Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. PXE is caused by autosomal recessive mutations in the '' ABCC6'' gene on the short arm of chromosome 16 (16p13.1). Signs and symptoms Usually, pseudoxanthoma elasticum affects the skin first, often in childhood or early adolescence. Small, yellowish papular lesions form and cutaneous laxity mainly affect the neck, axillae (armpits), groin, and flexural creases (the inside parts of the elbows and knees). Skin may become lax and redundant. Many individuals have "oblique mental creases" (horizontal grooves of the chin) PXE first affects the retina through a dimpling of the Bruch membrane (a thin membrane separating the blood vessel-rich layer from the pigmented layer of the retina), that is only visible during ophthalmologic examinations. This is ca ...
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Pemphigus
Pemphigus ( or ) is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes. The name is derived from the Greek root ''pemphix'', meaning "pustule". In pemphigus, autoantibodies form against desmoglein, which forms the "glue" that attaches adjacent epidermal cells via attachment points called desmosomes. When autoantibodies attack desmogleins, the cells become separated from each other and the epidermis becomes detached, a phenomenon called acantholysis. This causes blisters that slough off and turn into sores. In some cases, these blisters can cover a large area of the skin. Originally, the cause of this disease was unknown, and "pemphigus" was used to refer to any blistering disease of the skin and mucosa. In 1964, researchers found that the blood of patients with pemphigus contained antibodies to the layers of skin that separate to form the blisters. In 1971, an article investigating the autoimmune nature of this disease was published ...
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Nevus Of Ota
Nevus of Ota is a hyperpigmentation that occurs on the face, most often appearing on the white of the eye. It also occurs on the forehead, nose, cheek, periorbital region, and temple. It was first reported by Masao Ōta of Japan in 1939. Cause Nevus of Ota is caused by the entrapment of melanocytes in the upper third of the dermis. It is found only on the face, most commonly unilaterally, rarely bilaterally and involves the first two branches of the trigeminal nerve. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma). It should not be confused with Mongolian spot, which is a birthmark caused by entrapment of melanocytes in the dermis but is located in the lumbosacral region. Women are nearly five times more likely to be affected than men, and it is rare among Caucasian people. Nevus of Ota may not be congenital, and may appear during puberty. Skin treatment A Q-switched 1064 nm laser has been successfully used to treat the condition. The ...
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Incontinentia Pigmenti
Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems. Most males with the disease do not survive to childbirth. Incontinentia pigmenti is caused by a mutation in the ''IKBKG'' gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis. A lack of IKBKG therefore makes cells more prone to apoptosis. Th ...
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Ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes from the Greek ἰχθύς ''ichthys'', literally "fish", since dry, scaly skin is the defining feature of all forms of ichthyosis. The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases. Types Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the um ...
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Goltz–Gorlin Syndrome
Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non- melanoma skin cancer. About 10% of people with the condition do not develop basal-cell carcinomas (BCCs). The name ''Gorlin syndrome'' refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006). The American dermatologist Robert W. Goltz (1923–2014)Burgdorf WH, Padilla RS, Hordinsky M. In memoriam: Robert W. Goltz (1923-2014). J Am Acad Dermatol 2014; 71: e163–e165 was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'. First described in 1960 by Gorlin and Goltz, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer wh ...
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