Literature DB >> 9835964

[Multiple trichodiscomas associated with colonic polyposis].

T Le Guyadec1, J P Dufau, J F Poulain, F Vaylet, M Grossin, G Lanternier.   

Abstract

BACKGROUND: Trichodiscoma is an uncommon benign tumor of the pilosebaceous system. CASE REPORT: An 83-year-old man had a past history of adenomatous polyps of the colon. The subject's brother had died from cancer of the colon. Over the past 4 years, the patient had developed approximately 30 small asymptomatic papulonodular tumors on the trunk. Skin biopsy demonstrated trichodiscomas. DISCUSSION: Together with fibrofolliculomas and perifollicular fibromas, trichodiscomas are benign tumors of the pilosebaceous system. These different tumors may occur simultaneously as in Birt-Hogg-Dubé syndrome which associates trichodiscoma and familial colonic polyposis. This combination has only been reported in Birt-Hogg-Dubé syndrome or with perifollicular fibromas.
CONCLUSION: This case suggests that patients with hamartomas of the pilosebaceous system should undergo explorations in search for digestive tract polyposis.

Entities:  

Mesh:

Year:  1998        PMID: 9835964

Source DB:  PubMed          Journal:  Ann Dermatol Venereol        ISSN: 0151-9638            Impact factor:   0.777


  6 in total

Review 1.  Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Nat Rev Urol       Date:  2015-09-01       Impact factor: 14.432

2.  Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; Michael L Nickerson; Michelle B Warren; Gladys M Glenn; Jorge R Toro; Maria J Merino; Maria L Turner; Peter L Choyke; Nirmala Sharma; James Peterson; Patrick Morrison; Eamonn R Maher; McClellan M Walther; Berton Zbar; W Marston Linehan
Journal:  Am J Hum Genet       Date:  2005-04-25       Impact factor: 11.025

3.  Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.

Authors:  Laura S Schmidt
Journal:  Fam Cancer       Date:  2013-09       Impact factor: 2.375

4.  Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Expert Opin Orphan Drugs       Date:  2014-11-29       Impact factor: 0.694

Review 5.  BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Authors:  J R Toro; M-H Wei; G M Glenn; M Weinreich; O Toure; C Vocke; M Turner; P Choyke; M J Merino; P A Pinto; S M Steinberg; L S Schmidt; W M Linehan
Journal:  J Med Genet       Date:  2008-01-30       Impact factor: 6.318

6.  Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.

Authors:  Joo Hee Lee; Min Joo Jeon; Joon Seon Song; Eun Jin Chae; Jin-Ho Choi; Gu-Hwan Kim; Jin Woo Song
Journal:  Korean J Intern Med       Date:  2018-10-26       Impact factor: 2.884

  6 in total

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