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EtiopathogenesisThis section has been translated automatically.
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.
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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.
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Regular colonoscopic screening examinations are urgently recommended (see also www.familienhilfe-polyposis.de).
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LiteratureThis section has been translated automatically.
- Birt AR, Hogg GR, Dube WJ (1977) Hereditary multiple fibrofilliculomas with trichodiscomas and acrochordons. Arch Dermatol 113: 1674-1677
- Bournier R et al (1925) Fibromes sous-cutanes peripilaires multiples du cou. Bull Soc Fr Dermatol Syph 32: 242-243
- Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
- Burgdorf WHC et al (1988) Carcinoma-associated genodermatoses. Dermatologist 39: 413-418
- 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
- Gambichler T et al (2000) Treatment of Birt-Hogg-Dube syndrome with erbium:YAG laser. J Am Acad Dermatol 43: 856-858
- 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
- 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
- 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
- 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
- Schulz T, hard shoe W (2000) Characteristics of the Birt-Hogg-Dube/Hornstein-Knickenberg syndrome. At J Dermatopathol 22: 293-294
- 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
- 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
- Vincent A et al (2003) Birt-Hogg-Dube syndrome: two patients with neural tissue tumors. J Am Acad Dermatol 49: 717-719
- Warren MB et al (2004) Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod Pathol 17: 998-1011
Incoming links (11)Eye diseases, skin changes; Fibrofolliculoma; Fibrofolliculomas, multiple; Fibroma perifollicular; Fibromatosis cutis, perifollicular, with colonic polyps; Multiple hereditary fibrofolliculomas and trichodiscomas; Pulmonary langerhans cell histiocytosis; Trichodiscom; Trichodiscomes and acrochorda; Tumor syndromes, hereditary; ... Show all
Outgoing links (14)Acanthosis nigricans (overview); Angiolipoma; Basal cell carcinoma (overview); Connective tissue nevus; Cowden syndrome; Fibrofolliculoma; Fibroma perifollicular; Focal dermal hypoplasia; Granulomatosis with polyangiitis; Hair follicle tumor; ... Show all
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