What is this disease?

December 6, 2011 12:10 PM

Can anybody identify this disease? My college friend, who evidently had it, recently passed away as a result. I never asked her exactly what was wrong for fear of being insensitive, but now I would like some closure. Description of observable symptoms inside...

A friend of mine from college passed away last month, and even though we had lost contact after I transferred to another school in a different state, the news is still very hard to take. Even though I didn't remain close to her after the move, I have fond memories of the times we spent together. Her passing, however, has left me with a big unanswered question: What did she die from?

Despite the fact that we shared many a class and coffee outing together, I never brought up her illness/deformity because I wanted her to know that it didn't matter to me in the least and I figured if she wanted to talk about it, she would bring it up. She never did, and I admired her greatly for her strength and positivity.

The symptoms that I could observe were as follows:

- She was on the shorter side (5'2"-4"), and very very thin (est. 95-100 lbs. - definitely no more than 105 lbs.)
- She had no fingers.
- Her entire body was always almost entirely wrapped in gauze bandages. The only skin she left revealed was her neckline and her face; The skin there looked as if she always was experiencing a rash/shingles, or that she had suffered 3rd degree burns all over her body.

Other than these distinguishing factors, there was nothing else I could see out of the ordinary.

She was a wonderful, strong person and an extremely talented artist, and the world is certainly worse off without her. If anyone has any idea what this disease might have been I would appreciate some insight. Thank you.

posted by bzzt to health & fitness (4 answers total)

Look up epidermolysis bullosa or ectodermal hypoplasia - both of these could give similar symptoms
posted by genmonster at 12:16 PM on December 6, 2011

Epidermolysis bullosa comes to mind first.
posted by Coobeastie at 12:16 PM on December 6, 2011

I wonder about harlequin-type icthyosis, except I think surviving that condition long enough to attend college may be somewhat rare.
posted by jayder at 12:21 PM on December 6, 2011

It looks as though she had symptoms of both epidermolysis bullosa and ectodermal hypoplasia. From her attitude, you would have never known that she was going through all that - It's a huge testament to her strength.

Jayder, I don't believe she had harlequin-type icthyosis, because I don't think it would have been possible for her to attend classes etc. She looked quite a lot like the picture of the child in the epidermolysis bullosa article from Wikipedia.

Thank you all for the info, I appreciate it!
posted by bzzt at 12:30 PM on December 6, 2011