Preliminary biopsy report

Soooooooooooooooooooooooo

the preliminary biopsy results from USC came back today...

The dermatologist is 100% certain that Wyatt does not have EB. 
Instead he has EHK.
This is what his report says:
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Diagnosis: Epidermolytic hyperkeratosis
Comment: The changes are suggestive of congenital bullous ichthyosiform erythroderma.  Similar changes can be seen in an epidermal nevus.
Clinical Impression: 3-day old mae born with denuded skin. ? Blisters.  Born at 26 weeks gestation, product of IVF, twin B. Twin A is terminated in-utero/non-viable.  Rule out RDEB.
Pathology Materials Received: White bisected shave biopsy specimen of intact skin in formalin measuring 7 x 5 mm.
Microscopic Description: The epdirmis shows mild keratin retention with parakeratosis.  There is acantholysis along the granular layer with epidermolysis and perinuclear clear changes with coarse keratohyalin granules.  The dermis shows a variable mostly perivascular lymphohistioctic infiltrate.

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EHK is commonly mistaken for EB in newborns because they both present themselves very similarly at first. 

 

Epidermolytic hyperkeratosis is a rare autosomal dominant genetic disorder, although up to 50% of cases represent new mutations {This means that it is passed through the mom or dad... only one parent has to have it in order to pass it on. About half of the cases are spontaneous, meaning neither parent has it.} 

 

EHK is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).

 

 

As affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.
EHK can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.

I found a short podcast from mayo clinic about a little girl that has EHK.

 

 

So now you're a little educated on EHK.

 

While we are grateful that Wyatt does not have EB, we are still sad for him {as I believe any parent would be} that he does in fact have a skin disorder.  However, from what I've read, EHK seems to be a lot more manageable than EB so, comparatively, this is a good thing.

 

On an extra happy note, the wound specialist is continuing to do a great job with Wyatt's skin and his feet are healing so good that they didn't need to be re-wrapped at his bandage change today. :)  I love those toes!  And the hospital had some inkless pads {there's plastic over the ink to protect babies feet} so they let me get Wyatt's footprints :)  That will be fun to show him when he gets older.

 

 

Oh yeah, and I made the mistake of introducing Wyatt to a pacifier yesterday.  I didn't THINK it was a mistake at the time... 1. I didn't know if he would even take it because a lot of preemies won't until they are a little older and 2. NCBI says that a benefit of using one is shorter hospital stays for preterm infants.  Well... now whenever he loses it he gets pissed.  He's been fussier today than he has been any other day of his short little life.  Oh well.  I figure that this at least means he'll be able to take a bottle well once they start letting him bottle feed.