Discussions By Condition: Allergies

Ectodermal Dysplasia or Neutrofil Dysfunction

Posted In: Allergies 6 Replies
  • Posted By: Heila Butters
  • October 19, 2006
  • 07:50 AM

My two year old son has various symptoms during illnesses and other symptoms of other disorders:
> top four scissor teeth missing (no teeth in the jaw), bottom scissor teeth mishapen and pointed (preliminary diagnosis of ectodermal dysplasia)
> Eczema
> continuous bouts of pneumonia, MRSA, ear infections, runny nose and oral anitbiotics aren't very effective. He is usually hospitalised and given intrivenise antibiotics to which he reacts very quickly.
> when he does become ill, his white blood cell and platelette counts are very high. Blood tests indicated toxic granulation of the neutrofils.
> bouts of constipation for no obvious reason
> tested positive for Tuberculosis in February 2006, but no confirmation of where the TB was situated. (confusion caused with excessive sweating and hypohidrotic ectodermal dysplasia, but sweating stopped when TB commenced) . After 6 months on TB medication, he has become ill again and we are awaiting test results.
The list goes on....
I would like to get a final verdict on what is wrong and what treatment would be best for him.
There are limited facilities in South Africa where DNA testing can be done.

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6 Replies:

  • HI.My name is Mike, and I run a UK based Ectodermal Dysplasia forum - http://ectodermaldysplasia.coolbb.netWe're only new, and our member base is slowly growing. I can't offer much more advice than to register with us and have a chat with our members. We're intergrating with the UK charity EDUK. We can pass your details on via the website and hopefully answer more questions for you!Thanks!
    Anonymous 42789 Replies
    • November 20, 2006
    • 00:48 PM
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  • Ever check for NEMO deficiency?
    Anonymous 42789 Replies
    • February 9, 2007
    • 06:17 AM
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  • What is Nemo Dificiency?:confused:
    Heila Butters 2 Replies
    • February 9, 2007
    • 06:33 AM
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  • I'm a physician assistant student and I just saw a special on mystery diagnosis on discovery health tv. Nemo is a rare but potentially lethal disease in which pediatric patients' immune systems are severly compromised. Nemo is an x-linked (so only boy's will have the disease) immunodeficiency with hyper IgM immunoglobulins. They also present with symptoms of Ectodermal dysplasia- pointed or pegged front teeth, inability to sweat due to a lack of eccrine sweat glands (which is very dangerous because this is one of the ways our body gets rid of wastes), hair defects- possible lack of hair follicles, abnormal nail plates and other secretory gland defects- such as in the lungs and bronchi or even esophagus or duodenum- causing the constipation symptoms. Complications in this disease are serious as any infection the patient gets can be life-threatening especially pnemonia (because the body does not have the ability to fight infections). **The overall consensus among clinical immunologists is that treatment should be of the immunoglobin IVIG dose of 400-600 mg/kg/mo or a dose that maintains trough serum IgG levels of more than 500 mg/dL is desirable. mmune globulin, subcutaneous (Vivaglobin) -- IgG antibodies that neutralize a wide variety of bacterial and viral agents. Neutralizes circulating myelin antibodies through anti-idiotypic antibodies; down-regulates proinflammatory cytokines, including INF-gamma; blocks Fc receptors on macrophages; suppresses inducer T and B cells and augments suppressor T cells; blocks complement cascade. Peak serum IgG levels are lower and trough IgG levels are higher than those achieved with IVIG. SC administration results in stable steady-state IgG levels when administered weekly. Available as a 160-mg/mL SC injectable.
    Anonymous 42789 Replies Flag this Response
  • Thank you for your reply. Unfortunately we don't get Discovery Health here in South Africa. I was told about it by the National Foundation of ED from the States.It has been sometime since I posted this information on the forum.Since then my son is receiving Polygam every three weeks and is also on a new course of TB meds. We seem to control his illnesses at the moment, but we haven't put it to the test yet. He currently stays at home. My son doesn't fit the conventional ED-ID as he tends to sweat more than most kids. Since receiving the TB medication the sweating seems to have normalised.We have sent blood samples to the Necker Institute in France and are awaiting the results. The reason I want to have these tests done is to get a proper diagnoses and to know what our options are. Apparently stemcell treatment is advancing in the UK and may be able to help/cure my son. Do you know anything about stemcell treatment?
    Heila Butters 2 Replies Flag this Response
  • Thank you for your reply. Unfortunately we don't get Discovery Health here in South Africa. I was told about it by the National Foundation of ED from the States.It has been sometime since I posted this information on the forum.Since then my son is receiving Polygam every three weeks and is also on a new course of TB meds. We seem to control his illnesses at the moment, but we haven't put it to the test yet. He currently stays at home. My son doesn't fit the conventional ED-ID as he tends to sweat more than most kids. Since receiving the TB medication the sweating seems to have normalised.We have sent blood samples to the Necker Institute in France and are awaiting the results. The reason I want to have these tests done is to get a proper diagnoses and to know what our options are. Apparently stemcell treatment is advancing in the UK and may be able to help/cure my son. Do you know anything about stemcell treatment?My entire family has ED and it was my nephew who was featured on Mystery Diagnosis. My daughter sweats excessively from her face but no where else on her body and dehydrates very easily. I realize the problems of living somewhere where there are no doctors or doctors who know nothing of these conditions. We live in the USA and where we live there are no doctors to help us. The basically laugh off HED because they are ignorant. A DNA test is needed for the diagnosis and I hope you can get one. My nephew had a stroke at 2 years old. This is nothing to fool with. I hope he is doing well and you find people with compassion and intelligence to get you all through this
    Anonymous 42789 Replies
    • December 20, 2010
    • 09:14 PM
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