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1.

Stevens-Johnson syndrome

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea).Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis.Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.
[from GHR]

MedGen UID:
20955
Concept ID:
C0038325
Disease or Syndrome
2.

Carbamazepine

a kind of epilepsy treatment drug [from CHV]

MedGen UID:
745
Concept ID:
C0006949
Organic Chemical; Pharmacologic Substance
3.

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

MedGen UID:
799640
Concept ID:
CN206174
Disease or Syndrome
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
6.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
7.

Schwartz Jampel syndrome type 1

Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.
[from GHR]

MedGen UID:
19892
Concept ID:
C0036391
Disease or Syndrome
8.

Toxic epidermal necrolysis

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea).Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis.Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.
[from GHR]

MedGen UID:
4501
Concept ID:
C0014518
Disease or Syndrome
9.

Epitol

MedGen UID:
152187
Concept ID:
C0700667
Organic Chemical; Pharmacologic Substance
10.

Amizepine

MedGen UID:
152186
Concept ID:
C0700666
Organic Chemical; Pharmacologic Substance
11.

Carbazepin

MedGen UID:
152185
Concept ID:
C0700665
Organic Chemical; Pharmacologic Substance
12.

Finlepsin

MedGen UID:
152184
Concept ID:
C0700664
Organic Chemical; Pharmacologic Substance
13.

Neurotol

MedGen UID:
148620
Concept ID:
C0700663
Organic Chemical; Pharmacologic Substance
14.

Tegretol

a kind of epilepsy treatment drug [from CHV]

MedGen UID:
147094
Concept ID:
C0700087
Organic Chemical; Pharmacologic Substance
15.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
16.

Stomatitis

Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. [from HPO]

MedGen UID:
52511
Concept ID:
C0038362
Disease or Syndrome
17.

Drug Allergy

Immunologically mediated adverse reactions to medicinal substances used legally or illegally. [from MeSH]

MedGen UID:
41663
Concept ID:
C0013182
Pathologic Function
18.

Adverse reaction to drug

Most of the time, medicines make our lives better. They reduce aches and pains, fight infections, and control problems such as high blood pressure or diabetes. But medicines can also cause unwanted reactions. One problem is interactions, which may occur between. -Two drugs, such as aspirin and blood thinners. -Drugs and food, such as statins and grapefruit. -Drugs and supplements, such as ginkgo and blood thinners. -Drugs and diseases, such as aspirin and peptic ulcers. Interactions can change the actions of one or both drugs. The drugs might not work, or you could get side effects. Side effects are unwanted effects caused by the drugs. Most are mild, such as a stomach aches or drowsiness, and go away after you stop taking the drug. Others can be more serious. Drug allergies are another type of reaction. They can be mild or life-threatening. Skin reactions, such as hives and rashes, are the most common type. Anaphylaxis, a serious allergic reaction, is more rare. When you start a new prescription or over-the-counter medication, make sure you understand how to take it correctly. Know which other medications and foods you need to avoid. Ask your health care provider or pharmacist if you have questions. .  [from MedlinePlus]

MedGen UID:
22562
Concept ID:
C0041755
Pathologic Function
19.

Stomatognathic Diseases

General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx. [from MeSH]

MedGen UID:
20960
Concept ID:
C0038368
Disease or Syndrome
20.

Skin Diseases, Vesiculobullous

Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) [from MeSH]

MedGen UID:
20778
Concept ID:
C0037275
Disease or Syndrome
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