Bay Biosciences provides high-quality, matched fresh frozen sera (serum),  plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids from patients diagnosed with Birt-Hogg-Dubé Syndrome (BHDS).

Moreover, the sera (serum), plasma and PBMC bio-fluids are processed from Birt-Hogg-Dubé Syndrome (BHDS) patient’s peripheral whole-blood using customized collection and processing protocols.

In addition, the matched bio-fluids are collected from unique patients with Birt-Hogg-Dubé Syndrome (BHDS) and are provided to a valued pharmaceutical customer for research, development and drug discovery.

Birt-Hogg-Dubé Syndrome (BHDS) Overview

Birt–Hogg–Dubé syndrome also known as Hornstein–Knickenberg Syndrome is a rare autosomal dominant genetic disorder. Moreover, it is an inherited condition characterized by the development of benign tumors on the head, face and upper body. Birt–Hogg–Dubé Syndrome also refers to fibrofolliculoma with trichodiscoma and acrochordon.

Patients with Birt-Hogg-Dubé Syndrome are at increased risk of developing colon or kidney cancer.  As well as spontaneous pneumothorax (lung collapse) due to pulmonary (lung) cysts. In addition, noncancerous tumors of the hair follicles called fibrofolliculomas.

The benign skin tumors involved in Birt-Hogg-Dube Syndrome (BHDS) are:

  • Fibrofolliculoma- Tumor developing in hair follicles
  • Trichodiscoma- Tumor of the hair disc
  • Angiofibroma- Vascular Tumor
  • Acrochordon- Skin tags

Symptoms of Birt-Hogg-Dubé Syndrome (BHDS)

Painless, small, papular skin lesions develop gradually over the scalp, face, neck, chest and back in BHDS patients. Lesions usually develop at around age 30 or 40 years, although they have been found in younger patients also, and they are not always present in people with the abnormal BHD gene. The symptoms of Birt-Hogg-Dube Syndrome seen in each family are unique, and can include any combination of the three symptoms.

Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of the patients with BHDS over the age of 40. Pulmonary cysts are equally common in BHDS patients (around 85% of the patients). Only around 25% of people with BHD eventually experience a collapsed lung (spontaneous pneumothorax). Kidney tumors, both cancerous and benign, occur in 15–30 percent of the BHDS patients, the associated kidney cancer are often rare hybrid umors.

  • Fibrofolliculomas (also called trichodiscomas) are small (2-4 mm), white-to-flesh colored, smooth, dome-shaped bumps.
  • Acrochordons or skin tags are small, soft 1-2 mm bumps that look like a wart with a thin neck.
  • There may be anywhere on the patients body from two to many hundreds of lesions.
  • Once developed, skin lesions are permanent.

Oral mucosal polyps, collagenomas, angiolipomas, and deforming lipomas may also form in the BHDS patients.

Causes of Birt-Hogg-Dubé Syndrome (BHDS)

Birt–Hogg–Dubé syndrome (BHDS) is caused due to a mutation in the BHD or FLCN gene on chromosome 17p12-q11.2 encoding a protein called folliculin. Researchers do not know why this mutation occurs. Though they do not fully understand its function, researchers believe it to be a tumor suppressor gene that restricts cell growth and division.

The syndrome is an autosomal dominant condition meaning half of an affected person’s children have a risk of inheriting the mutation. Researchers have found versions of the FLCN gene in other animals, including fruit flies, German shepherds, rats, and mice.

Birt–Hogg–Dubé syndrome can manifest similarly to other diseases, which must be ruled out when making a diagnosis. These include tuberous sclerosis, which causes skin lesions similar to fibrofolliculomas, and Von Hippel-Lindau disease, which also causes hereditary kidney cancers.

FLCN gene creates a protein called folliculin that has two isoforms. It appears to act as a tumor suppressor and expresses strongly in the skin, distal nephrons and Type-1 pneumocytes. Researchers have also found it in the parotid gland, brain, breast, pancreas, prostate and ovaries.

Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to the formation of noncancerous and cancerous tumors.

Charateristics

The kidney tumors in Birt–Hogg–Dubé syndrome (BHDS) patients range from benign oncocytomas to malignant renal cell carcinomas (cancer) including chromophobe, clear cell or papillary subtypes. Hybrid tumors may also sometimes develop in the kidney of a Birt–Hogg–Dubé syndrome (BHDS) patients. The typical skin lesions are called fibrofolliculomas. Fibrofolliculomas are characterized by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma.

Other Characteristics

Other characteristic of Birt–Hogg–Dubé syndrome (BHDS) patients skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations of BHDS usually develop in the third and fourth decades of life and persist indefinitely. Moreover, cutaneous manifestations usually have an earlier onset than associated kidney tumors. The pulmonary cysts are characterized by cystic dilatation of alveolar spaces, ranging from microscopic foci to a few millimeters in diameter. The thin-wall cysts are lined by cuboidal epithelium. The cysts rupture under pressure of inhalation, which leads to pneumothorax.

Etiology of Birt–Hogg–Dubé syndrome (BHDS)

BHD syndrome is transmitted in an autosomal dominant fashion. A potential causative gene, FLCN, has been located on chromosome 17p11.2. This BHD gene encodes folliculin and although the function of the BHD gene product is still unknown, it is believed to be a component of the mTOR pathway (like other hamartoma syndrome-related proteins) and play a role in the development of renal neoplasms and possibly other associated lesions.

Diagnostic methods of Birt–Hogg–Dubé syndrome (BHDS)

Diagnosis relies on recognition of the clinical manifestations, together with histological analysis to confirm the presence of the trichodiscomas, perifollicular fibromas and fibrofolliculomas associated with Birt–Hogg–Dubé syndrome (BHDS). The diagnosis can be confirmed by detection of DNA mutations
in the BHDS, FLCN gene.

Differential Diagnosis Birt–Hogg–Dubé Syndrome (BHSD)

The differential diagnosis of the multiple firm papules of Birt–Hogg–Dubé syndrome (BHDS) is dependent on whether the skin lesions are epithelial, mesodermal or mixed in origin. BHD patients and their relatives should seek genetic counseling and testing if possible.

Management and treatment of Birt–Hogg–Dubé Syndrome (BHDS)

There is no specific medical treatment for the dermatologic manifestations of Birt–Hogg–Dubé Syndrome (BHDS) patients. The definitive treatment for solitary perifollicular fibromas is surgical removal.
In addition, medical professionals have suggested dermabrasion and electro-desiccation as treatment options, but lesions may recur. Healthcare providers should screen patients with BHD and manage pulmonary, renal, and gastrointestinal findings.

Prognosis

The prognosis for patients with Birt–Hogg–Dubé Syndrome (BHDS) is dependent on the degree of
internal involvement and the type of kidney tumor involved.

Biospecimens

Bay Biosciences is, indeed a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens, and human bio-fluid collections.

Specifically, aamples available include cancer (tumor) tissue, cancer serum, cancer plasma, cancer, peripheral blood mononuclear cells (PBMC) and human tissue samples from most other therapeutic areas and diseases.

Moreover, Bay Biosciences maintains and manages its own biorepository, the human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors available in all formats and types.

In fact, our biobank procures and stores fully consented, de-identified and institutional review boards (IRB) approved human tissue samples and matched controls.

Additionally, all our human tissue collections, human specimens and human bio-fluids are provided with detailed, samples associated patient’s clinical data.

In particular, critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers, and genetic information.

Moreover, researchers find patient’s data extremely valuable and use it to help identify new effective treatments (drug discovery & development) in oncology, and other therapeutic areas and diseases.

Specifically, Bay Biosciences banks wide variety of human tissue samples and biological samples, including cryogenically preserved at – 80°C.

For example fresh frozen tissue samples, tumor tissue samples, formalin-fixed paraffin-embedded (FFPE), tissue slides, with matching human bio-fluids, whole blood and blood-derived products such as serum, plasma and PBMC.

Furthermore, Bay Biosciences is a global leader in collecting and providing human tissue samples according to the specified requirements and customized, tailor-made collection protocols.

Therefore, please contact us anytime to discuss your special research projects and customized human tissue sample requirements.

Types of Biospecimens

Bay Biosciences provides human tissue samples (human specimens) from diseased and normal healthy donors which includes:

  • Firstly, Peripheral whole-blood
  • Secondly, Amniotic fluid
  • Third, Bronchoalveolar lavage fluid (BAL)
  • Moreover, Sputum
  • Furthermore, Pleural effusion
  • Next, Cerebrospinal fluid (CSF)
  • Also, Serum (sera)
  • Likewise, Plasma
  • In addition, Peripheral blood mononuclear cells (PBMC)
  • For example, Saliva
  • Also, Buffy coat
  • Moreover, Urine
  • Furthermore, stool samples
  • Next, Aqueous humor
  • Likewise, Vitreous humor
  • Lastly, Kidney stones (renal calculi)
  • Finally, Other bodily fluids from most diseases including cancer.

Moreover, we can also procure most human bio-specimens, furthermore; we offer special collections and requests for human samples that are difficult to find. All our human tissue samples are procured through IRB-approved clinical protocols and procedures.

In addition to the standard processing protocols, Bay Biosciences can also provide human plasma, serum, and PBMC bio-fluid samples using custom processing protocols. Additionally you buy donor-specific collections in higher volumes and specified sample aliquots from us.

Furthermore, Bay Biosciences also provides human samples from normal healthy donors; volunteers, for controls and clinical research, contact us Now.

 

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