Epidermolysis bullosa
| Epidermolysis bullosa | |
|---|---|
 |
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| A five-year-old boy with congenital epidermolysis bullosa | |
| Classification and external resources | |
| Specialty | Dermatology |
| ICD-10 | Q81 |
| ICD-9-CM | 757.39 |
| DiseasesDB | 31928 33248 |
| MedlinePlus | 001457 |
| eMedicine | derm/124 |
| Patient UK | Epidermolysis bullosa |
| MeSH | D004820 |
Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
The condition was brought to public attention in 2004 in the UK through the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of Jonny Kennedy, an Englishman with EB. In the United States, the same could be said of the HBO documentary My Flesh and Blood from 2003.
"Butterfly Children" is a term often used to describe younger patients (because the skin is said to be as fragile as a butterfly’s wings), "Cotton Wool Babies", or (in South America) as "Crystal Skin Children".
Epidermolysis bullosa refers to a group of inherited disorders that involve the formation of blisters following trivial trauma. Over 300 mutations have been identified in this condition. They have been classified into the following types:
Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes KRT5 and KRT14.
Junctional epidermolysis bullosa is an inherited disease affecting laminin and collagen. This disease is characterised by blister formation within the lamina lucida of the basement membrane zone and is inherited in an autosomal recessive manner. It also presents with blisters at the site of friction, especially on the hands and feet, and has variants that can occur in children and adults. Less than one person per million people is estimated to have this form of epidemolysis bullosa.
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Wikipedia