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Treatment forJunctional epidermolysis bullosa - Online Doctor Chats

Date : 21-Feb-2012
User rating for this question
Excellent Posted in: Genetics
Answered by

General & Family Physician
Practicing since : 2005
Answered : 2305 Questions
Doctor :   hi
Doctor :   Dr. XXXXXXXX here.
User :   Hello, My son suffers from epidermolysis bullosa what do you suggest
Doctor :   when was this diagnosed?
Doctor :   It is a rare group of inherited disorders that present as blistering or erosion of the skin and, in some cases, the epithelial lining of internal organs, in response to little or no apparent trauma.
Doctor :   what is the type of epidermolysis bullosa diagnosed for him? what treatment has been provided?
Doctor :   how old is your son at present?
User :   this was diagnosed at birth. he is now 14 years
Doctor :   ok.
Doctor :   what is the type of epidermolysis bullosa diagnosed for him? what treatment has been provided?
Doctor :   are you there?
User :   yes
Doctor :   I have to close the window as you are not responding. Please chat with our doctors 24/7 for medical queries.
Doctor :   could you provide the details about his problem?
Doctor :   i will need to ask you few more questions to grade the severity/stage of problem he is having.
Doctor :   and advise you further
User :   the same wasdiagnosed by Dr XXXXXXXX XXX i was referring to the prescription. it is epidermolysis bullose jointal open
User :   he gets blisters all over his body with more blisters on hands and legs. especially on the knees
Doctor :   ok
Doctor :   do you mean to say that he diagnosed it as Junctional epidermolysis bullosa?
Doctor :   does he have any associated symptoms at present?
User :   presently he has got blisters on knees but the even after busting the skin on one knee is not healing and the woulnd is open or what i would call raw. can u suggest any remedy to heal this
User :   yes junctional right
Doctor :   its is an inherited disorder with mutation in the keratin or collagen gene
User :   yes
Doctor :   was karyotyping test done to confirm the type of genetic problem?
Doctor :   if yes, what did the test reveal?
User :   no
Doctor :   is he been put on any physiotherapy?
Doctor :   i would suggest you to consult a genetic specialist and go ahead with the karyotyping done
User :   histopathology/cytopathology of skin section was done
Doctor :   so see how severe is the problem in the gene
Doctor :   and depending on the type of problem detected
User :   how will karyotyping help and how and where is it done
Doctor :   the symptoms and the type of the disease will vary
Doctor :   and also based on teh test result further prognosis can be predicted
Doctor :   since it is caused due to mutation in genes for keratin and collagen
Doctor :   karyotyping will help in finding what exactly the mutation was
Doctor :   as even teh type of mutations can change
Doctor :   and depending on the type of mutation, the further prognosis can be found
Doctor :   if the mutation is severe, problem is very dangerous with children having short life span
Doctor :   if the problem detected is not that severe, it can be taken care with nutrition and physiotherapy and behavioral therapy
Doctor :   and avoidance of injuries.
User :   how and where is it done is there a cure. as of now we apply fudic cream on the blisters and he takes hyrax syrup for lesser irritation and prevent itching
Doctor :   a gastro opinion should be sought if the child has any problem with with having food
Doctor :   ok
Doctor :   continue his medical treatment as prescribed
Doctor :   get a counseling done by a genetic specialist, you can locate genetic specialist in medical colleges
Doctor :   there are genetic labs where these tests can be done
Doctor :   please provide your location details, i will try to see if any genetic lab is present
User :   XXX
Doctor :   ok. let me try. please give me a moment
Doctor :   try to locate XXX
Doctor :   or XXX for medical genetics
Doctor :   or approach XXX, genetic department
Doctor :   you will get all details and also get the tests done.
Doctor :   have you followed what I have said?
Doctor :   you can also choose to take a second opinion from our panel specialists
Doctor :   wwww.www
Doctor :   visit this link to consult with our panel specialist
Doctor :   have you followed what I have said?
Doctor :   are you there?
Doctor :   I have to close the window as you are not responding. Please chat with our doctors 24/7 for medical queries.
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