Format

Send to:

Choose Destination

MedGen for PubMed (Select 19471629)

Multiple fibrofolliculomas(BHD)

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
Synonyms: BHD; BHD syndrome; Birt-Hogg-Dube Syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-DubŽ syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; Hornstein-Knickenberg syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Multiple fibrofolliculomata (110985001); Birt-Hogg-Dube syndrome (110985001); Multiple fibrofolliculomas (110985001); Birt-Hogg-Dubé syndrome (110985001)
 
Gene (location): FLCN (17p11.2)
OMIM®: 135150
Orphanet: ORPHA122

Disease characteristics

Excerpted from the GeneReview: Birt-Hogg-Dubé Syndrome
The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Jorge R Toro   view full author information

Additional descriptions

From OMIM
Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340).  http://www.omim.org/entry/135150
From GHR
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome.  http://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome

Clinical features

Multiple lipomas
MedGen UID:
504685
Concept ID:
CN000948
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Neoplasm of the gastrointestinal tract
MedGen UID:
429103
Concept ID:
CN006459
Finding
A tumor (abnormal growth of tissue) of the gastrointestinal tract.
Renal neoplasm
MedGen UID:
506302
Concept ID:
CN008586
Finding
The presence of a neoplasm of the kidney.
Neoplasm of the thyroid gland
MedGen UID:
506448
Concept ID:
CN116930
Finding
A tumor (abnormal growth of tissue) of the thyroid gland.
Salivary gland neoplasm
MedGen UID:
451953
Concept ID:
CN117575
Finding
A tumor (abnormal growth of tissue) of a salivary gland.
Neoplasm of the parathyroid gland
MedGen UID:
451984
Concept ID:
CN117624
Finding
A tumor (abnormal growth of tissue) of the parathyroid gland.
Fibrofolliculoma
MedGen UID:
851145
Concept ID:
CN231305
Finding
Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
Renal cyst
MedGen UID:
776573
Concept ID:
C2173677
Finding
A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include. -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Renal neoplasm
MedGen UID:
506302
Concept ID:
CN008586
Finding
The presence of a neoplasm of the kidney.
Salivary gland neoplasm
MedGen UID:
451953
Concept ID:
CN117575
Finding
A tumor (abnormal growth of tissue) of a salivary gland.
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Neoplasm of the thyroid gland
MedGen UID:
506448
Concept ID:
CN116930
Finding
A tumor (abnormal growth of tissue) of the thyroid gland.
Neoplasm of the parathyroid gland
MedGen UID:
451984
Concept ID:
CN117624
Finding
A tumor (abnormal growth of tissue) of the parathyroid gland.
Abnormality of the abdomen
MedGen UID:
425046
Concept ID:
CN001314
Finding
Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Neoplasm of the gastrointestinal tract
MedGen UID:
429103
Concept ID:
CN006459
Finding
A tumor (abnormal growth of tissue) of the gastrointestinal tract.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
Abnormality of the skin
MedGen UID:
504656
Concept ID:
CN000890
Finding
An abnormality of the skin.
Fibrofolliculoma
MedGen UID:
851145
Concept ID:
CN231305
Finding
Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
Emphysema
MedGen UID:
425087
Concept ID:
CN001898
Finding
Spontaneous pneumothorax
MedGen UID:
505108
Concept ID:
CN001909
Finding
Pneumothorax occurring without traumatic injury to the chest or lung.
Multiple lipomas
MedGen UID:
504685
Concept ID:
CN000948
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGMultiple fibrofolliculomas
Follow this link to review classifications for Multiple fibrofolliculomas in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article

Recent clinical studies

Etiology

Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D
Br J Dermatol 2010 Mar;162(3):527-37. Epub 2009 Sep 26 doi: 10.1111/j.1365-2133.2009.09517.x. [Epub ahead of print] PMID: 19785621
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH
J Invest Dermatol 2008 Jan;128(1):45-9. Epub 2007 Jul 5 doi: 10.1038/sj.jid.5700959. [Epub ahead of print] PMID: 17611575

Diagnosis

Ponti G, Pellacani G, Seidenari S, Pollio A, Muscatello U, Tomasi A
Crit Rev Oncol Hematol 2013 Mar;85(3):239-56. Epub 2012 Jul 21 doi: 10.1016/j.critrevonc.2012.07.001. [Epub ahead of print] PMID: 22823951
Happle R
Am J Med Genet A 2012 Jun;158A(6):1247-51. Epub 2012 May 11 doi: 10.1002/ajmg.a.35330. [Epub ahead of print] PMID: 22581760
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH
J Am Acad Dermatol 2012 Feb;66(2):259.e1-9. Epub 2011 Jul 26 doi: 10.1016/j.jaad.2010.11.039. [Epub ahead of print] PMID: 21794948
Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D
Br J Dermatol 2010 Mar;162(3):527-37. Epub 2009 Sep 26 doi: 10.1111/j.1365-2133.2009.09517.x. [Epub ahead of print] PMID: 19785621
Weintraub R, Pinkus H
J Cutan Pathol 1977 Dec;4(6):289-99. PMID: 753849

Clinical prediction guides

Misago N, Narisawa Y
Clin Exp Dermatol 2009 Dec;34(8):892-4. Epub 2009 Jan 15 doi: 10.1111/j.1365-2230.2008.03065.x. [Epub ahead of print] PMID: 19196303
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH
J Invest Dermatol 2008 Jan;128(1):45-9. Epub 2007 Jul 5 doi: 10.1038/sj.jid.5700959. [Epub ahead of print] PMID: 17611575
De la Torre C, Ocampo C, Doval IG, Losada A, Cruces MJ
Am J Dermatopathol 1999 Aug;21(4):369-74. PMID: 10446780
Weintraub R, Pinkus H
J Cutan Pathol 1977 Dec;4(6):289-99. PMID: 753849

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...