Epidermolysis Bullosa: Diagnosis and Management

00:01 All right. The clinical presentation.

00:03 For epidermolysis bullosa simplex, remember these are the keratin five, keratin 14 mutations, presents between infancy and third decade of life. It has a very early onset.

00:14 Why it might not manifest itself into the third decade may have to do with hormonal stimulation, other inflammatory processes, just walking around in the world and getting exposed to various exogenous injury.

00:30 Trauma or friction clearly will drive the formation of the blisters, and we see it mostly on the palms and the soles of the feet, the plantar surface of the foot.

00:40 More severe disease can involve the trunk, limbs or legs.

00:43 There will be involvement of the oral mucosa.

00:46 And because the nail beds are all part and parcel of the cutaneous system, you can see dystrophic nails and actually loss of nails.

00:56 Dystrophic epidermolysis bullosa.

00:58 That is to say, mutations in the collagen seven gene, which are going to be deep within deeper within the dermis, will present with blistering at birth.

01:07 It's usually over bony prominences.

01:10 So kind of stress involvement in where the blisters occur.

01:15 There is some scarring in their nail changes.

01:17 It is not typically as bad as the junctional epidermolysis bullosa that we saw in the previous slide in terms of mortality, but there are certain there is a risk of death in this. And again, because this involves these diseases involve all stratified squamous epithelium, the upper third of the esophagus may also be involved. So the diagnosis.

01:40 This is one where we need to do a biopsy to demonstrate where the blistering is.

01:45 And that gives us a sense of which mutation might be occurring.

01:49 We also want to rule out other blistering disorders such as dermatitis herpetiformis or pemphigus or pemphigoid.

01:56 Once we think that we're into the genetic realm, then we'll do genetic testing.

02:00 And we will in this case specifically look for mutations in the various genes associated with adhesion. Now there are a lot of them I we've given we've talked about four main ones, but there are also a whole bunch of minor ones.

02:16 And how do we manage this.

02:18 That's the hard part. This is genetic.

02:21 It's until we get good gene therapy, it's going to be very hard to cure these diseases. In fact, until we do have gene therapy, we can't cure it. So the general approach is supportive.

02:31 We want to maintain good hydration.

02:33 We don't want the patients to become dehydrated because we've lost that barrier function. When we bathe them, it's gentle.

02:40 There's no rubbing of skin at all.

02:42 You want salt water to also be a little bit bacteriostatic, and also to provide kind of a way to moisturize the skin with salt.

02:51 And then it pulls in water.

02:54 You use nonstick dressings.

02:55 If you use sticky dressings, you'll pull off the skin every time you change the dressing. These can obviously be painful because we're getting inflammation of exposed nerves because we've lost skin.

03:07 Analgesia is very important if the lesions are itchy or to prevent the individual from scratching, which will obviously cause more blistering.

03:16 You can give antihistamines.

03:17 And for secondary infections because we've lost barrier function you give antibiotics.

03:22 So a tough set of diseases.

03:25 Epidermolysis bullosa is also very interesting set of diseases and really allows us to use our knowledge of normal cell and epithelial biology to understand pathogenesis. Thanks.