[PAGID] Patient Query

[Dewton Vasconcelos]

Dear Dr. Wainstein

I also agree about the probable autosomal recessive inheritance, and my 
first thought was that this patient must have a variant of 
Papillon-Lefevre syndrome with a benign course of the periodontal 
disease (Toomes C, James J, Wood AJ, et al. Loss-of-function mutations 
in the cathepsin C gene result in periodontal disease and palmoplantar 
keratosis. Nat Genet. 1999 Dec;23(4):421-4.). Moreover, hepatic 
abscesses are a common complication in PLS.
Certainly helminthic parasites can't be ruled out that could explain 
eosinophilia and elevated IgE levels.

All the best,

Dewton Vasconcelos, MD, PhD
University of São Paulo

kumar036 at umn.edu escreveu:

> My first thought of course was that this boy must have an autosomal 

> recessive disorder; however his story could well be explained by a 

> parasitic infection like Toxocara. There are several papers stating 

> that Staphylococcal liver abscesses, particularly in children are 

> associated with Toxocara infections, also causing high IgE levels and 

> pulmonary eosinophilia (J. Trop. Pediatr., 2000,46:167-72). The only 

> thing this doesn't explain is the hyperkeratosis. I don't know the 

> epidemiology of parasites in Australia, so take it for what it's 

> worth. On the other hand, he may have traveled.

>

> Ashish Kumar, MD, PhD

> University of Minnesota

>

> On Aug 18 2008, Brynn Wainstein wrote:

>

>>

>> I wonder if I can ask about an interesting young boy I have seen? He is

>> a 7 year old Lebanese boy who is the son of 1st cousins. He developed

>> severe 'bronchiolitis' at age 1 and required an ICU admission. For the

>> next year he was in and out of hospital with respiratory infections.

>> Then he re-presented in 2005 with a liver abscess which was found to be

>> Staph Aureus and responded to drainage and flucloxacillin. He has had no

>> further liver or other abscesses. A NBT done in 2005 was normal. He then

>> disappeared again until January this year when he presented with a

>> febrile respiratory illness. The symptoms came and went over the next

>> few months until he was referred to me in May. When I saw him he was

>> well but I found that he had profound palmar plantar hyperkeratosis and

>> bilateral fine inspiratory crepitations with no clinical evidence of

>> chronic lung disease. His teeth and gums are normal and there was

>> nothing else to find on physical examination. I performed some immune

>> investigations (attached) and ordered a high res chest CT. When he

>> returned for review a few weeks later the crepitations had completely

>> disappeared and his CT was reported as normal with a small area of

>> atelectasis in the lower lobe. No evidence of bronchiectasis or

>> fibrosis. I also found that he had a high IgE level (attached) and

>> eosinophilia but has no clinic evidence of atopy or positive

>> specific-IgE tests.

>>

>> We considered PLS but his gums are normal. Could this be HIES? <<A

>> El-D.pdf>>

>> I would appreciate your thoughts and comments.

>>

>> Thank you.

>>

>> Regards,

>>

>> Dr Brynn Wainstein

>> Paediatric Clinical Immunologist

>> Staff Specialist Sydney Children's Hospital

>> Tel: +61-2-9382-1515

>> Fax: +61-2-9382-1580

>>

>>

>>

>>

>>  

>> --------------------------------------------------------------------------------------------- 

>>

>>

>> SOUTH EASTERN SYDNEY AND ILLAWARRA AREA HEALTH SERVICE 

>> CONFIDENTIALITY NOTICE

>>

>> NB: *** Due to an organisational amalgamation, email addresses for 

>> recipients in this organisation have changed. Please update your 

>> contacts list with the details of the email addresses contained within.

>>

>> This email, and the files transmitted with it, are confidential and 

>> intended solely for the use of the individual or entity to whom they 

>> are addressed. If you are not the intended recipient, you are not 

>> permitted to distribute or use this email or any of its attachments 

>> in any way. We also request that you advise the sender of the 

>> incorrect addressing.

>>

>> This email message has been virus-scanned. Although no computer 

>> viruses were detected, South Eastern Sydney and Illawarra Area Health 

>> Service accept no liability for any consequential damage resulting 

>> from email containing any computer viruses.

>

>

>


-------------- next part --------------
A non-text attachment was scrubbed...
Name: dmvascon.vcf
Type: text/x-vcard
Size: 438 bytes
Desc: not available
Url : <http://seven.pairlist.net/mailman/private/pagid/attachments/20080819/9caa1323/attachment.vcf>