Birt-hogg-dubé syndrome D23.-

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 23.02.2021

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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

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

Definition
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Hereditary, familial or sporadic, very rare syndrome characterized by multiple tumors originating from the connective tissue portion of the hair shaft and diseases of various extracutaneous organs.

Etiopathogenesis
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Autosomal-dominantly inherited mutations of the Birt-Hogg-Dubé-Syndrome gene (BHDS/folliculin gene), which is mapped on gene locus: 17p11.2 and causes disorders of the protein folliculin, are discussed. It also describes the involvement of the VHL and tyrosinase kinase domains of the Met proto-oncogene family and the PTCH, PTEN and CTNNB1 genes.

Manifestation
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No gender preference or age predilection.

Localization
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Preferably face, neck, shoulders.

Clinical features
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  • Integument: Multiple, skin-coloured, flesh-coloured or waxy shiny, relatively coarse, 2-5 mm in size, hemispherical asymptomatic papules, often oral. These are usually combinations of histologically different structures, e.g.
  • Extracutaneous manifestations:
    • Colon: multiple colonic adenomas with a high risk of degeneration to colorectal carcinoma.
    • Genitourinary tract: prostate carcinoma, renal cysts, renal angiolipomas, hyperuricemia.
    • Lung: emphysema, bronchiectasis, lung cysts, hamartomas of the lung.
    • Eyes: retinopathies, chorioretinopathies, glaucoma.
    • Endocrine system: thyroid carcinoma, hypothyroidism, parathyroid adenoma, diabetes mellitus.
    • Other: Osteomas, hypertension, hepatic hemangiomas, uterine fibroids, facial nerve palsy, deafness, aplasia of the anterior communicating artery.

Differential diagnosis
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Therapy
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Progression/forecast
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Regular colonoscopic screening examinations are urgently recommended (see also www.familienhilfe-polyposis.de).

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

Literature
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  1. Birt AR, Hogg GR, Dube WJ (1977) Hereditary multiple fibrofilliculomas with trichodiscomas and acrochordons. Arch Dermatol 113: 1674-1677
  2. Bournier R et al (1925) Fibromes sous-cutanes peripilaires multiples du cou. Bull Soc Fr Dermatol Syph 32: 242-243
  3. Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
  4. Burgdorf WHC et al (1988) Carcinoma-associated genodermatoses. Dermatologist 39: 413-418
  5. Frantzen B et al (2001) Chert Knickenberg and Birt-Hogg-Dube syndrome. Report of a case with spontaneous pneumothorax and aplasia of the left internal carotid artery. dermatologist 52: 1016-1020
  6. Gambichler T et al (2000) Treatment of Birt-Hogg-Dube syndrome with erbium:YAG laser. J Am Acad Dermatol 43: 856-858
  7. Chert OP, Knickenberg M (1975) Perifollicular fibromatosis cutis with polyps of the colon- a cutaneo-intestinal syndrome sui generis. Arch Derm Res 253: 161-175
  8. 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
  9. 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
  10. Okimoto K et al (2004) A germ-line insertion into 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
  11. Schulz T, hard shoe W (2000) Characteristics of the Birt-Hogg-Dube/Hornstein-Knickenberg syndrome. At J Dermatopathol 22: 293-294
  12. Schulz T, hard shoe 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
  13. Vincent A et al (2003) Birt-Hogg-Dube syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol 49: 698-705
  14. Vincent A et al (2003) Birt-Hogg-Dube syndrome: two patients with neural tissue tumors. J Am Acad Dermatol 49: 717-719
  15. Warren MB et al (2004) Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod Pathol 17: 998-1011

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 23.02.2021