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Multiple fibrofolliculomas(BHD)

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
Synonyms: BHD; BHD syndrome; Birt-Hogg-Dube Syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; Hornstein-Knickenberg syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, 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).
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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]
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.  https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome

Clinical features

Neoplasm of the thyroid gland
MedGen UID:
21546
Concept ID:
C0040136
Neoplastic Process
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 retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Neoplasm of the gastrointestinal tract
MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
A benign or malignant neoplasm involving any part of the gastrointestinal system.
Renal neoplasm
MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
The presence of a neoplasm of the kidney.
Neoplasm of the thyroid gland
MedGen UID:
21546
Concept ID:
C0040136
Neoplastic Process
A tumor (abnormal growth of tissue) of the thyroid gland.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
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.
Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Renal neoplasm
MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
The presence of a neoplasm of the kidney.
Abnormality of the abdomen
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Spontaneous pneumothorax
MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
Pneumothorax occurring without traumatic injury to the chest or lung.
Abnormality of the abdomen
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Salivary gland neoplasm
MedGen UID:
451953
Concept ID:
CN117575
Finding
A tumor (abnormal growth of tissue) of a salivary gland.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Finding
An abnormality of the skin.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Neoplasm of the thyroid gland
MedGen UID:
21546
Concept ID:
C0040136
Neoplastic Process
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple 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. 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. 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. 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. 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. 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. 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. 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. 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. 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

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