Birt-hogg-dubé syndromeD23.-

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 10.09.2023

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Synonym(s)

BHD Syndrome; Fibrofolliculomas multiple; Hereditary fibrofolliculomas and trichodiscomas (Birt-Hogg-Dubé); multiple fibrofolliculomas; Multiple hereditary fibrofolliculomas and trichodiscomas; Trichodiscomes and Acrochorda

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HistoryThis section has been translated automatically.

Burnier et al., 1925; Hornstein and Knickenberg, 1975; Birt, Hogg and Dubé, 1977

DefinitionThis section has been translated automatically.

Hereditary, familial or sporadic, very rare syndrome characterized by multiple neoplasms originating from the connective tissue of the hair shaft and diseases of various extracutaneous organs, especially the lungs and kidneys. lungs and kidneys.

EtiopathogenesisThis section has been translated automatically.

The syndrome is secondary to a germline mutation in the folliculin(FLCN) gene, which is located on chromosome 17p11.2 and encodes the folliculin protein (Baba M et al. 2006). A number of mutations have been detected, including deletions, substitutions, and duplications, which are thought to lead to truncation of the protein and consequent loss of function.

Folliculin is expressed in a number of normal tissues, including skin, lung, and kidney, although its exact function as a protein remains unknown. Recent evidence suggests that folliculin functions as a tumor suppressor via an interaction with the mTOR energy processing pathway, and its absence contributes to the development of BHDS-associated renal tumors. There may be subtypes of BHDS, as lung cysts are the predominant feature in some families and skin and renal manifestations are less common. In addition, mutations may be specific to certain ethnicities, as Japanese and Caucasian patients have been found to have different mutation distributions and unique alterations

Involvements of the VHL and tyrosinase kinase domains of the Met proto-oncogene family and the PTCH, PTEN, and CTNNB1 genes have also been described.

ManifestationThis section has been translated automatically.

No gender preference or age predilection.

LocalizationThis section has been translated automatically.

Preferably face, neck, shoulders.

Clinical featuresThis section has been translated automatically.

Differential diagnosisThis section has been translated automatically.

TherapyThis section has been translated automatically.

Progression/forecastThis section has been translated automatically.

Regular colonoscopic screening examinations are urgently recommended (see also www.familienhilfe-polyposis.de).

Note(s)This section has been translated automatically.

Burnier et al., 1925; Hornstein and Knickenberg, 1975; Birt, Hogg and Dubé, 1977 kajhsd

LiteratureThis section has been translated automatically.

  1. Baba M et al. (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A 103:15552-15527.
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  3. Bournier R et al (1925) Fibromes sous-cutanes peripilaires multiples du cou. Bull Soc Fr Dermatol Syph 32: 242-243.
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  5. Burgdorf WHC et al (1988) Carcinoma-associated genodermatoses. Dermatologist 39: 413-418
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  7. Gambichler T et al (2000) Treatment of Birt-Hogg-Dube syndrome with erbium:YAG laser. J Am Acad Dermatol 43: 856-858
  8. Hornstein OP, Knickenberg M (1975) Perifollicular fibromatosis cutis with polyps of the colon- a cutaneo-intestinal syndrome sui generis. Arch Derm Res 253: 161-175
  9. Lindor NM et al (2001) Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. Int J Dermatol 40: 653-656
  10. Nickerson ML et al (2002) Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2: 157-164
  11. Okimoto K et al (2004) A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. Proc Natl Acad Sci U S A 101: 2023-2027.
  12. Schulz T, Hartschuh W (2000) Characteristics of the Birt-Hogg-Dube/Hornstein-Knickenberg syndrome. Am J Dermatopathol 22: 293-294.
  13. Schulz T, Hartschuh W (1999) Birt-Hogg-Dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol 26: 55-61
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Last updated on: 10.09.2023