Author Topic: Congenital Desmoid Tumor  (Read 4042 times)

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Offline arbanth

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Congenital Desmoid Tumor
« on: July 26, 2012, 03:55:36 AM »
Anyone who what is this and how to treat this kind of disorder?


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Congenital Desmoid Tumor
« on: July 26, 2012, 03:55:36 AM »
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Offline PinoyNurse

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Re: Congenital Desmoid Tumor
« Reply #1 on: July 26, 2012, 09:42:22 PM »
it's a kind of genetic disorder --- hereditary po sya.



Fibromatosis desmoid tumour


Desmoid Tumor that grew from Small Intestine

Desmoid Tumor video (The video's owner prevents external embedding)



Offline arbanth

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Re: Congenital Desmoid Tumor
« Reply #2 on: July 26, 2012, 09:44:11 PM »
oh wow thank you


Offline PinoyNurse

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Re: Congenital Desmoid Tumor
« Reply #3 on: July 26, 2012, 09:46:17 PM »
CLINICAL CHARACTERISTICS:

     General description (for patients):  Desmoid disease is associated with tumors, usually in the abdominal wall, but also in the colon. More often they occur in muscles, around the ribs, in bones, and as cysts in the skin. The tumors are benign (usually not malignant) but their growth and size can still cause problems.  Malignant tumors do occur however.

     Medical description:  Familial fibromatosis can be a disfiguring disorder and cause significant morbidity.  The tumors, while usually benign, are multiple, involving bone, muscle, mesentery, and sometimes the colon.  Skin involvement is mainly cystic of the sebaceous type.  Though benign, removal of symptomatic tumors often leads to recurrence. Malignant tumors do also occur occasionally.

GENETICS:   Desmoid disease occurs sporadically but is also known to follow an autosomal dominant pattern.  The latter is caused by a mutation in the APC gene on chromosome 5 (5q21-q22).  A truncating mutation consisting of a 337 base pair Alu I sequence in the APC gene has been found in a dominant pedigree of an Amish family.

TREATMENT:  No cure exists nor is there any treatment other than local excision of symptomatic tumors.  Even then there is sometimes local recurrence.

PROGNOSIS:  Highly dependent upon location, number and size of tumors.  This condition is compatible with life but can be highly disfiguring and debilitating.

ANCILLARY TREATMENTS AND SUPPORT:  General support for symptoms and disabilities.

SPECIALISTS AND SPECIALTY CENTERS:  Surgeon, neurologist, dermatologist, orthopedist, gastroenterologist.

REFERENCES:

Halling, K.C., Lazzaro, C.R., Honchel, R., Bufill, J.A., Powell, S.M., Arndt, C.A., and Lindor, N.M.:  Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene.  Hum. Hered. 49: 97-102, 1999.  PubMed ID:10077730

Couture, J., Mitri, A., Lagace, R., Smits, R., Berk, T., Bouchard, H.-L., Fodde, R., Alman, B., Bapat, B.,:  A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.  Clin. Genet. 57: 205-212, 2000.  PubMed ID: 10782927

Offline Technogear

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Re: Congenital Desmoid Tumor
« Reply #4 on: July 26, 2012, 09:51:52 PM »
pag ganito pong genetic disorder talagang namamana po sya ano? kahit na nacorrect or napasurgery na yung tumor, posible pa rin bang bumalik?


 

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