Dystrophic epidermolysis bullosa
| Dystrophic epidermolysis bullosa | |
|---|---|
| Term | Dystrophic epidermolysis bullosa |
| Short definition | dystrophic epidermolysis bullosa - (pronounced) (dis-TROH-fik EH-pih-der-MAH-lih-sis boo-LOH-suh) rare inherited disorder in which blisters form on the skin and the moist lining of some organs and body cavities. The blisters usually appear at birth and can appear on specific parts of the body (like the hands, feet, elbows, and knees) or all over the body (including the mouth, esophagus, and other parts of the gastrointestinal tract, the eyes, and the genitourinary tract). |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
dystrophic epidermolysis bullosa - (pronounced) (dis-TROH-fik EH-pih-der-MAH-lih-sis boo-LOH-suh) rare inherited disorder in which blisters form on the skin and the moist lining of some organs and body cavities. The blisters usually appear at birth and can appear on specific parts of the body (like the hands, feet, elbows, and knees) or all over the body (including the mouth, esophagus, and other parts of the gastrointestinal tract, the eyes, and the genitourinary tract). ). This can cause scarring in the affected areas and thinning of the skin. Other signs and symptoms include small white bumps on the skin; deformities in the fingers, toes, nails, teeth and joints; difficulty chewing and swallowing; vision loss and other eye problems; Anemia; slow growth; and poor diet. Some people with dystrophic epidermolysis bullosa are at very high risk of developing squamous cell carcinoma of the skin at a young age. There are different types of dystrophic epidermolysis bullosa. It is caused by a mutation (change) in the COL7A1 gene. Also called DEB
External links
- Medical encyclopedia article on Dystrophic epidermolysis bullosa
- Wikipedia's article - Dystrophic epidermolysis bullosa
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