PakMediNet Discussion Forum : Medicine : Ehlers Danlos or Cutis Laxa or something else?
Ehlers Danlos or Cutis Laxa or something else?
We have a patient, about 40 years of age, presented with hanging eye balls with loose eye lids from last 1 year. He was perfectly fine before that. He has associated history of exertional dyspnea, cough and backache. He was operated for inguinal, paraumbilical hernia twice with delayed healing of wounds. He never had fractures, dislocations or had any history of elastic joints. On examination he has very loose eye lids (both upper/lower) with hanging eye balls down uptill maxillary bone. Eye sight is intact and eye movements are also intact. These eye balls go back into the orbit canal in a lying position or by manually pushing it back. He also has kyphoscoliosis, syringomyelia (possibily traumatic), empysematous chest with diaphragmatic hernia. He doesnt have any joint hypermobility. The scars of operated hernias are thin like cigarrette paper.
The questions are:
1. Is this the case of Ehlers Danlos syndrome or Cutis Laxa or some other connective tissue disorder?
2. Have you ever read or reported such case before?
3. How would we proceed for any further investigations to read a reasonable diagnosis and treatment?
Thanks
Posted by: docosamaPosts: 333 :: 16-09-2006 :: | Reply to this Message
Re: Ehlers Danlos or Cutis Laxa or something else?
What about his scrotum? Is that hanging down to his knees? I'm sure you found this:
http://www.ednf.org/
Its quite possible that he has the genes that did not express early on or he was not diagnosed till he developed symptoms. Surgeon who operated on him should have picked it up but that's a long shot. May be he has psedoxanthoma.
[Edited by chameed on 16-09-2006 at 11:35 AM GMT]
Posted by: chameedPosts: 173 :: 16-09-2006 :: | Reply to this Message
Re: Ehlers Danlos or Cutis Laxa or something else?
And if I might add:
Diseases like this are a constant reminder to those of us who collect various pieces of paper by memorizing trivia and then brag about their so called credentials and appointments. As you are all aware, various textbooks of medicine are quite fat but in reality they offer some type of a solution only about 10-15% of the time and that may be a little higher estimate on my part. In this situation, you will conduct various fancy and expensive tests which are a good academic exercise but at the end of the day, you will have to go back to him and his family to hopefully say, “I’m sorry but there’s nothing that I can offer you to correct this situation other than support.” When you reach that point, you begin to realize how limited you are with all these degrees and technical innovations and that’s when a doctor really grows intellectually, because now you understand your limitations and start to look at life from a totally different perspective
Posted by: chameedPosts: 173 :: 16-09-2006 :: | Reply to this Message
Re: Ehlers Danlos or Cutis Laxa or something else?You are right that dont have much to offer him. We have consulted senior surgeons for his corrective surgery. There would be a problem how the stitches would remain in place and 2ndly, high chance of recurrence. The patient himself has consulted several doctors (infact professors) with the hope to find some solution. I wish he can find somebody before he develops corpulmonle and respiratory failure.
Posted by: docosamaPosts: 333 :: 17-09-2006 :: | Reply to this Message
Re: Ehlers Danlos or Cutis Laxa or something else?I hope that the surgeon who corrected his hernias, used a mesh to prevent recurrence. It may be possible to hold his eyeballs in the sockets by using synthetic tape and non-absorbable sutures. It'll be a time consuming and tedius operation with no room for error and it may restrict his eyeball movement. But I don't know if anyone would be willing to take a chance.
Posted by: chameedPosts: 173 :: 21-09-2006 :: | Reply to this Message