Birt-Hogg-Dube Syndrome Details

Expanded Description

BHD syndrome is a rare disorder that affects the skin and increases the risk of certain types of tumors.

BHD syndrome is autosomal dominant, monogenic and adult onset. Since it was first described, in 1977 , fewer than 200 affected families have been reported worldwide .
The associated gene, BHD, has been mapped and sequenced and encodes Folliculin (FLCN). FLCN function remains unclear. BHD mRNA is seen in all three organs that show a phenotype. In the kidney there is expression in the tubules – stronger in the distal than proximal . FLCN localises to the nucleus and cytoplasm , has two known binding partners – FNIP1 and FNIP2/FNIPL and interacts with the mTOR signaling pathway . Like the more common von Hippel-Lindau gene, it is considered a tumour suppressor : haploinsufficiency is thought to be sufficient for the skin and lung phenotype but loss of heterozygosity is required for RCC.

Prevalence

0.0 ( Cases ) [Source]

Causes

Mutation in the BHD gene. Most mutatations cause protein truncation.

Autosomal dominant. Haploinsufficiency is sufficient for the skin and lung phenotype. Loss of heterozygosity (i.e. somatic mutation of the wild-type allel) is required for the kidney tumours.

Disorder Symptoms

Symptoms have been seen in three different organs:

1. Non-cancerous lesions of hair follicles on the skin;

2. Air-filled cysts in the lungs with an increased risk of collapsed lung (pneumothorax);

3. Renal cell carcinoma (RCC).

There is phenotypic variation, and patients can display any or all of the symptoms.

We don't have any symptoms yet.

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

No treatment information has been added yet

We don't have any treatments yet.

Prognosis

No prognosis information has been added yet

Tips for Living with the Disorder

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