Display Settings:

Format

Send to:

Choose Destination

Results: 4

1.

Sarcoidosis, early-onset

Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.
[from GHR]

MedGen UID:
373021
Concept ID:
C1836122
Disease or Syndrome
2.

Familial eosinophilia

Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by Rioux et al., 1998). [from OMIM]

MedGen UID:
78796
Concept ID:
C0272192
Disease or Syndrome
3.

Zinc

An element with atomic symbol Zn, atomic number 30, and atomic weight 65.39. [from NCI]

MedGen UID:
22752
Concept ID:
C0043481
Pharmacologic Substance
4.

Recognizes self

MedGen UID:
643227
Concept ID:
C0558229
Finding

Display Settings:

Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...