Cowden Disease which is also know by the name of Cowden Syndrome or Multiple Hamartoma Syndrome is a congenital dysfunction of the autosomal dominant type , which is developed due to mutation of the PTEN cistron . Some of the other diseases which have PTEN cistron genetic mutation are Bannayan - Riley - Ruvulcaba Syndrome and Proteus Syndrome . Cowden Disease results in hamartomatous neoplasms of pelt and mucous membrane , GI nerve tract , clappers , fundamental nervous organisation , and the GU parcel of land . Majority of cases of Cowden Disease involves the skin and in some casing the thyroid is also involve .
What Is The Cause Of Cowden Disease?
As stated , Cowden Disease develop as a outcome of the mutant of gene PTEN , which is a tumor supressor gene . This gene produces protein call phosphatase and functions by regulating mobile phone outgrowth . It is an autosomal predominant type disorderliness which means that the child has to inherit only one copy of the defective cistron from one parent to get this disease . Due to mutation of the PTEN gene , there is a malfunction of the regulating of cubicle resulting in overproduction of cell and thus establishment of a ontogeny and other associated symptom .
What Are The Symptoms Of Cowden Disease?
Some of the symptom of Cowden Disease are presence of cutaneal facial papules . These papule may be flesh - colored and elongate . These papules may have a diameter of about 6 mm . There may be multiple such papule present usually in the periorificial region . In some cases there may also be oral lesions present as well .
How Is Cowden Disease Diagnosed?
Since a large number of people with Cowden Disease are predisposed to hamartoma and various malignance , hence it is imperative to monitor such patients very nearly with frequent testing ground evaluations to seem for any abnormalities . For diagnosing Cowden Disease , the following tests may be done .
CBC Count : If an individual is sternly anaemic then it may be indicative of a malignant upset hence periodical staring blood count is tally to look for any signs of anemia in hoi polloi suspected of having Cowden Disease .
Thyroid Function test : Cowden Disease also causes thyroidal upset and hence periodic thyroid psychometric test is required for people suspected of Cowden Disease .
Urinalysis : Urinalysis is also done to contain for proteinuria and hematuria suggestive of a kidney dysfunction
Blood Chemistry : A detailed chemistry is also checked of the patient suspected of having Cowden Disease include liver affair test and Ca levels to look for any irregularity in the liver .
Skin Biopsy : A skin biopsy of the lesions is dead vital for the diagnosing of Cowden Disease .
What Is The Treatment For Cowden Disease?
The good way to keep Cowden Disease in stay is by carrying out a detailed history and strong-arm examination along with the above mentioned tests at least on an annual basis to keep the disease in checkout . For females , self - breast interrogatory should be done on a six monthly basis part as betimes as 18 or 19 geezerhood of age . aside from this , the chase may be done to keep Cowden Disease under mastery :
