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What is Birt-Hogg-Dubé Syndrome?
Birt - Hogg - Dubé Syndrome is a complex and rare genetic skin disease that characteristically result to the development of skin papule . These papules more often than not occur on the head , upper torso and the typeface . The skin papule often take the form of tumor but are mostly noncancerous in their nature and look at the fuzz follicle . They are visit fibrofolliculomas . The status of Birt - Hogg - Dubé syndrome can also lead to pneumothorax which is a condition of reduplicate failure of the lungs or evolution of cysts in the lung . It can also lead to kidney neoplasia . Birt - Hogg - Dubé syndrome can cause variation of the FLCN cistron which can pass due to an autosomal trait .
Signs and Symptoms of Birt-Hogg-Dubé Syndrome
There is not much of received space-reflection symmetry when we babble of the symptom that are common in this condition . The symptoms of Birt - Hogg - Dubé Syndrome can wide vary from person to individual . However , even then it has been seen that there are some very common symptoms.(1)They are pulmonary or lung cysts , the geological formation of skin lesions , a repeated threat of lung crash and renal neoplasia . Almost 85 % of the patient role suffering from Birt - Hogg - Dubé Syndrome are seen to educate skin papules . However , there can also be representative of patient role developing lung cyst and kidney neoplasia without the formation of cutis lesions.(2 )
Skin papule that are also referred to as fibrofolliculomas although normally happen on the neck , face and the scalp , it can also be establish on the area of oral mucous membrane and capitulum lobes . The symptom can vary widely in affected role even in those from the same family line . This is because the symptom will depend on the nature of the mutation of the genes . For deterrent example , the number of skin lesion can vary in a dramatic style . Some patients are seen to have just a few of them whereas others have a large number of them .
hoi polloi stick out from Birt - Hogg - Dubé syndrome can also prepare multiple lung vesicle that can affect both the lungs . This has been seen in most 80 % of the people who are affect by this disease . In most case , these vesicle do not cramp the normal functioning of the lungs . Normally one - third of Birt - Hogg - Dubé Syndrome patients face the condition of the collapse of the lungs . This happens when strain gets trammel in the environ neighborhood of the lung . It can come about in new citizenry and has been reported in small fry around the years of 7 to 16 age . A child who has been affected by FLCN genetic mutation has 50 % greater chances of lung crash as liken to their siblings who do not have this mutation.(2 )
closely 30 % of patients with Birt - Hogg - Dube Syndrome grow nephritic tumour . These growths are broadly tiresome and can develop over a span of many long time . It is around the age of 45 – 50 age that the symptoms become potent enough to get diagnose . citizenry who have been affected by Birt - Hogg - Dubé syndrome have a greater danger of developing cancerous kidney growths as compared to other people .
Diagnosis of Birt-Hogg-Dubé Syndrome
The condition of Birt Hogg Dube Syndrome is often diagnose on the groundwork of clinical finding . However , this is a condition that can also be diagnosed on the basis of molecular genetic testing which is done for finding out the extent and the nature of mutation of the FLCN gene .
Clinical Trial of Birt-Hogg-Dubé Syndrome
One of the primary factor that assist in the diagnosis of the circumstance is the bearing of the dermal manifestation that are common in Birt - Hogg - Dubé syndrome . These maturation were initially described as the fibrofolliculomas or also as abnormal growth in the reign of the fuzz follicle , trichodiscomas which occurs in the realm of the hair follicle outer boundary and is common in the area of the facial expression . The acrochordons or skin tags are also a common symptom of Birt - Hogg - Dubé Syndrome The first symptom of dermal manifestations can be confirm through the summons of histology . Often it has been view that intimately 89 % of multitude who has Birt - Hogg - Dubé syndrome has multiple cysts in both their lungs . about 24 % of these patient role must have experienced some episodes of pneumothorax . These cysts and their presence can be made out with the helper of CT scan of the chest . Renal neoplasm and its other types are also discerned with the avail of diseased subtypes . ab initio the diagnosis was based on the cutaneous findings ; however , in recent time other operation of diagnosis that relate to the pulmonary reading and the renal meter reading are also brought to utilize . The peel lesion are also tested in Holy Order to rule out about the condition . The nature of these skin lesions can be regain out on the basis of hereditary trial of FLCN mutation .
Genetic Testing for Birt-Hogg-Dubé Syndrome
Genetic testing is also done so that a diagnosing of the experimental condition can be made . This is also known as sequencing that is used in the setting of a minimum of 88 % of patients . People who do not have symptoms can be diagnosed with the help of the clinical run that shows the mutant of genes . At this stagecoach , sure test in the exonic regions of the body are also made that give more direct indications at the universe of the condition . Often further genic testing is prescribed so that the findings of the clinical diagnosis can be further confirm . This is one of the most common practices that are being followed by the MD so that they can be double sure of the situation .
Through the genic testing , other crime syndicate members who have not express the symptom of Birt - Hogg - Dubé Syndrome but might be at risk of developing the term in the time to come can also be discern . This will help in the further unconscious process of direction of the status .
Differential Diagnosis for Birt-Hogg-Dubé Syndrome
Finding out the consideration of Birt - Hogg - Dubé syndrome just on the basis of clinical testing is not possible . This is because the symptom could be from other wellness problems and not this condition in particular . Renal tumors that are vulgar in this condition also occur in the context of von Hippel - Lindau disease , hereditary papillose renal genus Cancer , and many other renal related problems . The specialization can be done on the basis of the Nat Turner histology tests . There are other conditions likeMarfan syndrome , TSC , cystic fibrosisand peck many other conditions where the symptoms could be similar to those of Birt - Hogg - Dubé syndrome . A right diagnosis is made only after a elaborated depth psychology of patient history .
Causes of Birt-Hogg-Dubé Syndrome
The Birt - Hogg - Dubé Syndrome is an inherit shape that can strike people with an inherited mutated gene . Such genetic disorder is pendent on the combination or the single gene that could be inherited either from both or any single parent . Such cistron could also occur as a singular and independent chromosomal mutation where none of the parents might have the trait in them . Each pregnancy has a 50 % chance where the baby can inherit the mutated cistron . Both male and female child are at the same risk levels.(1 )
In sealed cases , it is seen that a unwritten genetic genetic mutation hap at the sperm or the egg cell itself . This is a shape where the child does not really inherit the mutate cistron from their parent .
The Birt - Hogg - Dubé syndrome is caused due to a sport of the FLCN gene . The FLCN cistron contains follicle which is a protein . The precise function of this protein is not known yet . However , this protein helps in the growing of the cells . The FLCN gene is a tumor suppresser factor that helps to jibe the growth of the jail cell and repairs the indemnity done for the deoxyribonucleic acid cells . Mutation of this gene can cause a boost of cancerous tumors .
Epidemiology of Birt-Hogg-Dubé Syndrome
This is a highly debatable issue . It has been stated that Birt - Hogg - Dubé Syndrome can originate for mass who might have inherited the mutated genes from their parents . This means that children or babe who have parents with affected genes might get this syndrome . However , it is also seen that often affected role who have this syndrome have a perfectly tidy band of parents . It could be due to the fact that their parent have been asymptomatic or did not have a problem at all . In the latter vitrine , it has been date that patients have develop the problem on their own as the FLCN gene sport have occur for them alone and have not been overstep to them by their parent .
Treatment of Birt-Hogg-Dubé Syndrome
Birt - Hogg - Dubé syndrome is a condition that leads to a number of problematic situations as it has a bit of adverse effects on the human physical structure . The variety of discourse that is to be given to Birt - Hogg - Dubé Syndrome affected role will reckon on the nature and the extent of the legal injury that has been rendered to the patient . In many situation where a tumor ask to be removed , unlike method are practice for the task such as tegument resurfacing , excision , laser cutting out , shaving and curettage . However , none of this happens to be a lasting solution as such tumors can re-emerge . Often if this tumor bechance in the kidney , a preventive measure of keeping a path and observation of the tumor is travel along by the doctors.(2)In the operation of doing so , MRIis preferred overCT scanas it has minimal irradiation . To treat the renal tumor , the method of partial nephrectomy is done so that just a part of the kidney that has the tumor is hit alternatively of the whole kidney .
Conclusion
A lot of research needs to be made into the domain so that healthcare professionals can translate the exact nature and the straight causes of the problem . However , it has been understood that the role of human factor take on a very important role here . The human gene is a highly dynamic and also complex thing . The nature and the behavior of these genes are still not completely translate . It has been agreed that one can inherit them from the parent and the chromosome from the parents can affect the genes to a neat extent . However , mutation of these factor is also a very important part of the cogitation and has not been realize till date . There could be various factors that actually strike its working . As on today , the direction revolve around symptomatic direction .
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