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What Causes Xanthoma Disseminatum When Suffering From Diabetes Insipidus?
Question: Hi,My brother is 32.When he was 18 years old started to get itchy spots(armpits,groin,behind kness,some by eyelids).he lives in Lithuania.About 7 years ago i did bring him to Rush hospital.He was diagnosed with Xanthoma disseminatum.At that time no treatment was known.Hospital looked at him,many doctors came out to take pictures...They asked if he could come back.He or I can't afford treatment in US.Lithuanian doctors said to him,they don't know how to help,started to ignore,instead of research or trying something.I kept reading ...I couldn't give up.(He never had normal life ,never takes his clothes off,swims...He is afraid to be a man,maybe father.He is greatest man i ever known )His lessions kept on growing.5 years or so,he developed thirst ,his lesions filled ,erupted.That is when I found an article showing diabetes insipidus.I asked him to go to his doctor in Lithuania and check for that. He was diagnosed with diabetes insipidus,medicine MINIRIN few times a day spray. Medicine helped with eruption,bleeding lessions.He has XD(biopsy showed CD1a- ,S100- ,CD 68+ 100%) 2012 I found Dr XXXXXXX E.Gibson article about 2-chlorodeoxyadenosine treatment. My brother also started to be on diet. Also send a link : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/ .Doctors gave him 2 medications (3rd is not approved they said in Lithuania)
Brief Answer:
Xanthoma disseminatum; Need more information
Detailed Answer:
Hello. Thanks for writing to us at healthcaremagic
I am Dr. Kakkar. I have gone through your query and I have also gone through the link (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/)
I would like to gather more information from you regarding the query.
-Apart from treatment for diabetes Insipidus, is he on any other treatment?Let me know.
-How has his skin condition responded to the medications?
Xanthoma Disseminatum (XD) Or Montgomery's disease is a very rare disease.
In XD, there may be involvement of the skin (predominantly flexures), mucous membrane of eyes, upper respiratory tract, Central Nervous System (CNS) as well as rarely internal organ involvement like liver, spleen and bone marrow.
Skin involvement is characterized by extensive cutaneous and mucous membrane xanthomas in normolipidemic patients.
While skin disease is benign except for discomfort and disfiguring, upper respiratory tract involvement might lead to respiratory distress.
Lesions at critical anatomic sites like pituitary and intracranilal involvement may result in morbidity and mortality
Pituitary gland infiltration is common leading to Diabetes Insipidus in about 40% of XD patients
XD is a self limiting disease otherwise.
While for cutaneous lesions CO 2 Laser has been used with good results, other drugs that have been effective for skin involvement are azathioprine and cyclophosphamide.
Oral lipid lowering drugs have also been tried for cutaneous disease.
Surgery is an option for CNS involvement.
Regards
Xanthoma disseminatum; Need more information
Detailed Answer:
Hello. Thanks for writing to us at healthcaremagic
I am Dr. Kakkar. I have gone through your query and I have also gone through the link (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/)
I would like to gather more information from you regarding the query.
-Apart from treatment for diabetes Insipidus, is he on any other treatment?Let me know.
-How has his skin condition responded to the medications?
Xanthoma Disseminatum (XD) Or Montgomery's disease is a very rare disease.
In XD, there may be involvement of the skin (predominantly flexures), mucous membrane of eyes, upper respiratory tract, Central Nervous System (CNS) as well as rarely internal organ involvement like liver, spleen and bone marrow.
Skin involvement is characterized by extensive cutaneous and mucous membrane xanthomas in normolipidemic patients.
While skin disease is benign except for discomfort and disfiguring, upper respiratory tract involvement might lead to respiratory distress.
Lesions at critical anatomic sites like pituitary and intracranilal involvement may result in morbidity and mortality
Pituitary gland infiltration is common leading to Diabetes Insipidus in about 40% of XD patients
XD is a self limiting disease otherwise.
While for cutaneous lesions CO 2 Laser has been used with good results, other drugs that have been effective for skin involvement are azathioprine and cyclophosphamide.
Oral lipid lowering drugs have also been tried for cutaneous disease.
Surgery is an option for CNS involvement.
Regards
Above answer was peer-reviewed by :
Dr. Vinay Bhardwaj
2012 used interferon injections for 6 weeks.,2013-2014 early- Lipanthyl 200mg(Fenofibratum) and Simvacor 10mg(Simvastatinum) for 4 months.( .After Interferon injections,or pills blood work showed no changes. My brother was on strick diet also at the same time.Less body weight less meds needed.Skin showed no changes.All these meds were one after the other.Nose spray help to control water intake,bleeding of lessions,.There was some change of form after meds,but no obvious changes. at this moment he is not taking any medications since winter.
Brief Answer:
Treatment of Xanthoma disseminatum is challenging
Detailed Answer:
Hi.
No doubt, XD is a challenging case in dermatology. XD Cases are rare therefore there are no controlled trials for systemic therapy.
There are 3 clinical patterns of XD: A persistent form which is common, a less common progressive form with systemic involvement and a rare spontaneous regressive form.
*Underlying Diabetes Insipidus has been associated with the progressive form of the disease.
A reproducibly effective therapy is yet to be identified for XD.
The following have been used with variable success:
Systemic steroids (daily or pulse),
Azathioprine,
Cyclophosphamide,
Interferons,
Lipid Lowering agents.
However, none has been reported to be uniformly effective in the treatment of XD though they may halt the progression in progressive disease.
Recently 2-chlorodeoxyadenosine has been shown to be an effective option in inducing remission and long term control.
Diet is an option too.
These options may be used either alone or combined.
The combination of pulse systemic steroids, interferons and statins (lipid lowering agents) seems to have been effective and is a good therapeutic option.
What I would suggest that he may continue on lipid lowering agents along with 2 chlorodeoxyadenosine.
He should be thoroughly investigated (blood investigations and radiological investigations for any internal involvement).
Though CNS involvement is rare (<5%) but I hope he already has been investigated specifically for CNS involvement (apart from pituitary) with an MRI because that can be life threatening.
Surgery is an option if there is intracranial involvement. Oral steroids can be tried if there is diffuse CNS involvement and surgery is difficult.
Cutaneous and laryngeal involvement is amenable to surgery, electrocoagulation, Laser etc.
The prognosis of XD is usually good in most cases. However, it can be worse if vital organs (specially CNS) are involved.
Regards
Treatment of Xanthoma disseminatum is challenging
Detailed Answer:
Hi.
No doubt, XD is a challenging case in dermatology. XD Cases are rare therefore there are no controlled trials for systemic therapy.
There are 3 clinical patterns of XD: A persistent form which is common, a less common progressive form with systemic involvement and a rare spontaneous regressive form.
*Underlying Diabetes Insipidus has been associated with the progressive form of the disease.
A reproducibly effective therapy is yet to be identified for XD.
The following have been used with variable success:
Systemic steroids (daily or pulse),
Azathioprine,
Cyclophosphamide,
Interferons,
Lipid Lowering agents.
However, none has been reported to be uniformly effective in the treatment of XD though they may halt the progression in progressive disease.
Recently 2-chlorodeoxyadenosine has been shown to be an effective option in inducing remission and long term control.
Diet is an option too.
These options may be used either alone or combined.
The combination of pulse systemic steroids, interferons and statins (lipid lowering agents) seems to have been effective and is a good therapeutic option.
What I would suggest that he may continue on lipid lowering agents along with 2 chlorodeoxyadenosine.
He should be thoroughly investigated (blood investigations and radiological investigations for any internal involvement).
Though CNS involvement is rare (<5%) but I hope he already has been investigated specifically for CNS involvement (apart from pituitary) with an MRI because that can be life threatening.
Surgery is an option if there is intracranial involvement. Oral steroids can be tried if there is diffuse CNS involvement and surgery is difficult.
Cutaneous and laryngeal involvement is amenable to surgery, electrocoagulation, Laser etc.
The prognosis of XD is usually good in most cases. However, it can be worse if vital organs (specially CNS) are involved.
Regards
Above answer was peer-reviewed by :
Dr. Bhagyalaxmi Nalaparaju
Thank you for answer.I hope there is a hope :/ .I will send this info to Lithuanian doctors.I wish these doctors would be more aggressive and helping... I can't believe that I need to learn medical ,to ask those doctors to try it.... God bless you.
Brief Answer:
You are welcome
Detailed Answer:
Hi.
Thank you.
Let me know if i can be of any more help.
Regards
best wishes!
You are welcome
Detailed Answer:
Hi.
Thank you.
Let me know if i can be of any more help.
Regards
best wishes!
Note: Hope the answers resolves your concerns, however for further guidance of skin related queries consult our Dermatologist.Click here to book a consultation
Above answer was peer-reviewed by :
Dr. Ashwin Bhandari
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