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Plead for medical advice or help with undiagnosed facial burning
My name is Sebastian and I’m writing in behalf of my mother, who is still undiagnosed after 19 years of suffering and abandoned by all of the possible medical institutions in the region (we live in Bosnia and Herzegovina). This problem is so complex that is almost impossible to describe it properly with less than 50 pages, but I’ll try. The problem started as severe burning of the cheeks accompanied with redness that flared up from time to time, sometimes with no apparent reason, sometimes from triggers such as really warm or cold weather, stress, exercise, cold wind… During a flare up, one of the debilitating problems were the lack of sleep caused by the burning sensation which would become even worse after falling asleep and would wake her up shortly after falling asleep. To help cool her face she used cotton compresses soaked in room temperature sage and chamomile tea. That helped her cope during a flare up period which would last usually around 5 days. Because of that she had to quit her job as an actress because she couldn’t handle the heat of the spotlight and the job couldn’t wait for her while she had her flare ups. Heavier flare ups were usually triggered by elevated stress a day before the flare up. She was first diagnosed with allergies and Urticaria and thus was treated with antihistamines for years. The treatment didn’t work. But although tough to manage, my mom found a way to cope with it and lead a fairly normal life, avoiding her triggers as much as possible and pushing through the flare ups. She had been a patient of all the dermatologists in town and none had any successful treatment for her. Five years ago, we found yet another dermatologist that diagnosed her with Rosacea and tried to treat her with Accutane, Metronidazole based creams, antibiotics and other typical medication for Rosacea. None of them helped (one time, long lasting antibiotic treatment seemed to have smallish benefits, but everything got back as soon as she stopped taking them… every next time she took antibiotics, the positive effect didn’t repeat). Furthermore, Accutane treatment made such a severe adverse reaction that the burning sensations were constant and unbearable for days and had to be stopped with a corticosteroid Diprofos injection. That stopped the reaction in a day or two. She also had tried laser Vbeam therapy that was usually prescribed for Rosacea. She responded badly to it as well. That’s the short version of the past 19 years, now comes the last 11 months. On the December 20th last year mom started having a flare up that for the first few days looked much like her standard flare up. After a few days she noticed that her face started acting different than usual: it wasn’t calming down as it did before and started developing dark red to even purple spots that varied in size (about 1-5cm in diameter). The burning sensations from those spots was much worse than normal and was hard to cool down. The spots change positions on the cheeks and will grow and make the entire cheek dark red (and burn severely) if not cooled in any way. From that time up until today, her face has to be cooled down constantly so that she can bear the burning. We used to cool her with the same cotton compresses soaked in tea, but now it couldn’t be at room temperature because her inflammation required it to be colder, but not too cool (for example she couldn’t bear ice on her face) because it would inflame her even more, so we had to put ice cubes in the tea to regulate its temperature. Her face gets so hot that the compresses would heat up in just a few seconds and must be changed every 15 seconds in order to work… both day and night (with nights and sleeping still being worse than days). My dad and I work in shifts so that we can cover the whole 24 hours. We’ve been to all of the possible dermatologists and rheumatologists here in Banja Luka and none of them had ANY idea what could cause this problem. One dermatologist did cryotherapy on her face, which made even more damage to the skin leaving the cheeks covered in erosions which made the primary disease hard to extinguish from the changes done by the liquid nitrogen (cryotherapy). Even now the skin is eroded and red from it but it looks a bit better than it did in January when the therapy was done, so now the primary disease with the purple-dark red spots that unbearably burn are again quite visible. We’ve been to Belgrade which is the capital city of Serbia and the biggest medical center of this area. At the rheumatology center the doctors tried to find if it’s an autoimmune disease such as Lupus erythematosus, Dermatomyositis, Scleroderma ect. All of her blood tests: hormone levels (they suspected it to be from menopause), biochemical and immune factors are all within normal levels (I have all of her results form so I can send any of them via email if needed) and suggest that she doesn’t have an autoimmune disease. Only Anti-Ds-DNA is always slightly elevated, but nothing else. Now even the dermatology center in Belgrade abandoned us. They made 5 skin biopsies: 2 Lupus band tests, hystopathologic and differential, and all of those were negative. The biopsies also showed that she doesn’t have Rosacea (so it was a wrong diagnosis all along). Not knowing what to do with her they discharged her with no diagnosis as every other medical center did. She doesn’t cool herself with tea compresses anymore, because the system is quite complicated (requires large amounts of tea, ice and compresses daily) and being soaked night and day for months also damaged the skin, so we found an another system: cooling with large plastic cups filled with cold water. The temperature of the cups can be regulated by putting ice cubes in the water. During the past months doctors tried a lot of medication (antibiotics, immunosuppressants- both Chloroquine and Azathioprine made huge adverse reactions, various corticosteroids, all with no effect), which I can all list if required. She has been on corticosteroid injections (20mg of methylprednisolone im) for all this time, but with pauses. She had a few remissions when the burning wasn’t completely gone (we thought that it might be from the injections, however we aren’t sure), but was bearable so that she can function at least a little bit during the day. However the remissions never lasted long, because as soon as she got better the doctors tried to get her off the injections, but with the dose lowering she would get the withdrawal syndrome where the burning gets even worse than before. She had about 4 remissions and rebounds so far, but even though she’s still getting the injections we haven’t been able to calm down the inflammation back to a remission after the last rebound, so her current state is really bad. Being desperate we’ve read so much about all of the possible facial disorders, so we know a lot not, but we still need help. Even though I have large medical knowledge, I’m still a physicist, not a doctor, so I can’t diagnose her nor prescribe her with anything. We suspect that, considering the negative blood results, it could be a neurological disorder, such as Atypical trigeminal neuralgia, so we’ve done an evoked potential test and MRI. The MRI was done and all they saw was that her meninx is somewhat thickened, but they connect that to my mom’s condition (I have the video of the MRI, so I could send if required). This is the short version of my mom’s medical history. We would do anything, go anywhere just to get proper help because our family is completely wrecked and my mom can’t stand the pain anymore after all this time. We need a doctor or medical institution to lead us, to diagnose my mom’s condition. I’m also trying to find medical organizations that might help, but can’t find any. So please, if you have any kind of medical advice or any suggestion about who we can contact further, please tell. Any information is useful. My email is sebastian.***@**** Regards, Sebastian
Unless specific tests are done it is difficult to rule out porphrias since the clinical presentations may not be typical.
No... I'm pretty sure it's not porphyrias, beucase her redness doesn't even resemble the blisters made by porphyria. She is swollen from the corticosteroids and now that she's slowly lowering the dose the swelling is slowly wearing off. However, the main problem (the red spots and papule like dots that spread into those red spots if not cooled down and burn unbearably) is still there. Also, porphyria is diagnosed through biochemical blood analysis and, as I already said, all her biochemical results are within normal levels. Furthermore, her problems do not occur in seizures, it's always there, some days it's worse, some days a little better, but it's always present and gets worse when she sleeps (especially during her REM cycle). Thank you for the suggestion though... I'm open for suggestions as I am the only one searching for a possible diagnosis...
Hello again,
I wish to update you on our progress with my mom's illness. Actually, we have none. The doctors in Belgrade have officially abandoned us, with no diagnosis, no recommendations or any kind of advice. So, now we have absolutely no doctor to lead us. As for allergy tests, yes, during these years and within this year we've done allergy tests and mom was prescribed with heavy doses of antihistamines. She's been taking them for all these years and stopped taking them a two weeks ago, because they didn't help at all. As for the allergy tests, most of them weren't valid because mom's skin is hyper-reactive and it would usually react to all allergens from the prick test. But the last test was valid and it showed only that histamines are slightly elevated and that she's slightly allergic to chicken. So, now we know that this is definitely not an autoimmune disease nor an allergic reaction. On my initiative mom was a patient of our neurology center. Although the doctors there haven't even heard for Atypical trigenimal neuralgia, they did an MRI of the head (we have it now on CD if somebody should wish to see it) and evoked potential test, but no tumors or places where nerves touch arteries were found. They only saw that, and I quote, a certain area of her meninx was slightly thickened (they had no explanation for that and saw no reason for that to be the cause of her problems) and that her sinuses were inflamed (they said that it is just collateral damage from her main problem and all the cooling down we have to do so she can manage the pain). They prescribed her with Gabapentin in large doses. It seemed as if it helped a bit after the first dose, but the longer she was taking it it was clear that it did nothing other than make her sleepy. So, they took her off those meds. She also reported that she feels pressure in her head, as if she has a hat on, some days more, some days less. After she stopped taking Gabapentin, she still feels it to a certain amount. So, not seeing a neurological reason for her facial burning they abandoned us as well. Since then, we can't seem to find any doctor to lead us so I'm now forced to look for somebody abroad who would give us advice and possibly lead us. However, although I am a physicist I have vast medical knowledge, so I've taken some notes that I think might be very important for diagnosing her disease.
First of all, since her condition escalated a year ago, eye capillary bursts occur rather often. And it always bursts on the lower half the the eye (below the iris). She always feels pressure "bellow the eyes" when she flares up and usually they burst when the part of the face just below the lower eyelid is most inflamed. So it must be connected. Now it happens about once a weak, sometimes bursts in both eyes.
Also, I mentioned before that during her problems with her facial burning, over the past 20 years, during her flare ups her state would always worsen as soon as she lays down (even though she sleeps in a sitting position) and especially after she falls the sleep. During the past year, that is a rule for every single night. She gets much inflamed no matter how good or bad her day was. However, since I cool her every single night with those cold plastic cups I mentioned earlier so she can get any sleep, I'm able to see that her inflammation always happens with a certain regularity. The moment she falls asleep her face always first starts to get a bit paler (she is never pale, but becomes a bit less red), then shortly after her face starts to inflame first in small spots (I mentioned the spots with more detail before), then they become dark red and hot and expand, covering the entire cheeks, even though I cool her the entire time. They are always at their peak when she gets to a REM cycle of her sleep. It's easy to recognize it because her eyes move rapidly, she starts to breathe heavily and it usually starts about an hour after falling asleep (lasting about ten minutes). Only after she enters Non REM (if the pain doesn't wake her before that) is it possible to calm down the inflamed skin a little bit. The first and sometimes second REM cycle are usually the worst in terms of inflammation. The last REM cycle before she finally wakes up can last up to an hour and always inflames her so much it wakes her and it takes several hours of the morning to cool the face down. It's the same every day. My theory is that the she flares up during REM because I know that arterial pressure is elevated during that cycle. But still, I cannot seem to figure out what is the core reason of the problem.
One more fact, back in 2007, mom started feeling numbing sensations of her right fist, right half of her face and right half of the tongue that would last about 10 minutes. In 2008. she did an MRI of the cervical spine and found a (I apologize because I don't know the proper English medical terms to translate and quote the results, but I'll try to paraphrase them) thinning of the spinal cord, especially on the C5-6 and C6-7 level. Also there is a bulging of a disc on the C3-4 level and some other changes which I don't know how to translate (if needed I can find someone to translate it so I can send it). Back then she was told to exercise and do yoga, and she did so the numbing stopped a few years after. We asked the neurologists if this could be the reason of her current facial problems, but they said that it was of no significance and didn't even look into it properly. She has also had a smallish hump for several years now which the doctors called "computer hump" and said it to be caused from her work. It hurts her really bad if that vertebra is even touched. I thought that it might be important as well.
One more thing is important to say. She is trying to slowly stop taking methylprednisolone injections (since they don't seem to be having any positive effect, just giving her look all swollen up) by lowering the dose by 1mg every few days so that she can avoid the withdrawal syndrome.
I apologize for writing such a long letter. I tried to explain all of my conclusions and doubts in as less text as possible. Please, if you have any suggestions and/or ideas tell us as soon as possible. We're completely lost and have no one to ask for help.
Thank you in advance, regards
Sebastian
I wish to update you on our progress with my mom's illness. Actually, we have none. The doctors in Belgrade have officially abandoned us, with no diagnosis, no recommendations or any kind of advice. So, now we have absolutely no doctor to lead us. As for allergy tests, yes, during these years and within this year we've done allergy tests and mom was prescribed with heavy doses of antihistamines. She's been taking them for all these years and stopped taking them a two weeks ago, because they didn't help at all. As for the allergy tests, most of them weren't valid because mom's skin is hyper-reactive and it would usually react to all allergens from the prick test. But the last test was valid and it showed only that histamines are slightly elevated and that she's slightly allergic to chicken. So, now we know that this is definitely not an autoimmune disease nor an allergic reaction. On my initiative mom was a patient of our neurology center. Although the doctors there haven't even heard for Atypical trigenimal neuralgia, they did an MRI of the head (we have it now on CD if somebody should wish to see it) and evoked potential test, but no tumors or places where nerves touch arteries were found. They only saw that, and I quote, a certain area of her meninx was slightly thickened (they had no explanation for that and saw no reason for that to be the cause of her problems) and that her sinuses were inflamed (they said that it is just collateral damage from her main problem and all the cooling down we have to do so she can manage the pain). They prescribed her with Gabapentin in large doses. It seemed as if it helped a bit after the first dose, but the longer she was taking it it was clear that it did nothing other than make her sleepy. So, they took her off those meds. She also reported that she feels pressure in her head, as if she has a hat on, some days more, some days less. After she stopped taking Gabapentin, she still feels it to a certain amount. So, not seeing a neurological reason for her facial burning they abandoned us as well. Since then, we can't seem to find any doctor to lead us so I'm now forced to look for somebody abroad who would give us advice and possibly lead us. However, although I am a physicist I have vast medical knowledge, so I've taken some notes that I think might be very important for diagnosing her disease.
First of all, since her condition escalated a year ago, eye capillary bursts occur rather often. And it always bursts on the lower half the the eye (below the iris). She always feels pressure "bellow the eyes" when she flares up and usually they burst when the part of the face just below the lower eyelid is most inflamed. So it must be connected. Now it happens about once a weak, sometimes bursts in both eyes.
Also, I mentioned before that during her problems with her facial burning, over the past 20 years, during her flare ups her state would always worsen as soon as she lays down (even though she sleeps in a sitting position) and especially after she falls the sleep. During the past year, that is a rule for every single night. She gets much inflamed no matter how good or bad her day was. However, since I cool her every single night with those cold plastic cups I mentioned earlier so she can get any sleep, I'm able to see that her inflammation always happens with a certain regularity. The moment she falls asleep her face always first starts to get a bit paler (she is never pale, but becomes a bit less red), then shortly after her face starts to inflame first in small spots (I mentioned the spots with more detail before), then they become dark red and hot and expand, covering the entire cheeks, even though I cool her the entire time. They are always at their peak when she gets to a REM cycle of her sleep. It's easy to recognize it because her eyes move rapidly, she starts to breathe heavily and it usually starts about an hour after falling asleep (lasting about ten minutes). Only after she enters Non REM (if the pain doesn't wake her before that) is it possible to calm down the inflamed skin a little bit. The first and sometimes second REM cycle are usually the worst in terms of inflammation. The last REM cycle before she finally wakes up can last up to an hour and always inflames her so much it wakes her and it takes several hours of the morning to cool the face down. It's the same every day. My theory is that the she flares up during REM because I know that arterial pressure is elevated during that cycle. But still, I cannot seem to figure out what is the core reason of the problem.
One more fact, back in 2007, mom started feeling numbing sensations of her right fist, right half of her face and right half of the tongue that would last about 10 minutes. In 2008. she did an MRI of the cervical spine and found a (I apologize because I don't know the proper English medical terms to translate and quote the results, but I'll try to paraphrase them) thinning of the spinal cord, especially on the C5-6 and C6-7 level. Also there is a bulging of a disc on the C3-4 level and some other changes which I don't know how to translate (if needed I can find someone to translate it so I can send it). Back then she was told to exercise and do yoga, and she did so the numbing stopped a few years after. We asked the neurologists if this could be the reason of her current facial problems, but they said that it was of no significance and didn't even look into it properly. She has also had a smallish hump for several years now which the doctors called "computer hump" and said it to be caused from her work. It hurts her really bad if that vertebra is even touched. I thought that it might be important as well.
One more thing is important to say. She is trying to slowly stop taking methylprednisolone injections (since they don't seem to be having any positive effect, just giving her look all swollen up) by lowering the dose by 1mg every few days so that she can avoid the withdrawal syndrome.
I apologize for writing such a long letter. I tried to explain all of my conclusions and doubts in as less text as possible. Please, if you have any suggestions and/or ideas tell us as soon as possible. We're completely lost and have no one to ask for help.
Thank you in advance, regards
Sebastian
MEDICAL PROFESSIONAL
Hi Sebastian,
How is your Mom? I'm sorry to hear what she has been through for the last 20 years. Were there allergy tests done? It is good that the previous diagnostic tests were negative and skin and autoimmune issues were ruled out. Burning sensation is indeed associated with neurological issues and she would benefit from a referral to a neurologist. Take care and do keep us posted.
How is your Mom? I'm sorry to hear what she has been through for the last 20 years. Were there allergy tests done? It is good that the previous diagnostic tests were negative and skin and autoimmune issues were ruled out. Burning sensation is indeed associated with neurological issues and she would benefit from a referral to a neurologist. Take care and do keep us posted.
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