Literature DB >> 939573

Generalized dermal perifollicular fibromas with polyps of the colon.

O P Hornstein.   

Abstract

The cases of 2 siblings with a rare, generalized genodermatosis have been reported, the most conspicuous feature being multiple perifollicular fibromas. In this type of dermal hamartomas, an apparent autosomal dominant trait was noted as well as the association with a small number of colon polyps in one of the patients. The author assumes a distinct dermo-intestinal syndrome not reported hitherto, which can be differentiated from Gardner's syndrome.

Entities:  

Mesh:

Year:  1976        PMID: 939573     DOI: 10.1007/bf00281897

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  9 in total

1.  GARDNER'S SYNDROME. A FAMILY GROUP STUDY AND REVIEW.

Authors:  P E WEARY; A LINTHICUM; E P CAWLEY; C C COLEMAN; G F GRAHAM
Journal:  Arch Dermatol       Date:  1964-07

2.  Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts.

Authors:  E J GARDNER
Journal:  Am J Hum Genet       Date:  1962-12       Impact factor: 11.025

3.  Perifollicular fibromas.

Authors:  H S ZACKHEIM; H PINKUS
Journal:  Arch Dermatol       Date:  1960-12

4.  Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.

Authors:  E J GARDNER; R C RICHARDS
Journal:  Am J Hum Genet       Date:  1953-06       Impact factor: 11.025

5.  Multiple dermal perifollicular fibromas with polyps of the colon -- report of a peculiar clinical syndrome.

Authors:  O P Hornstein; M Knickenberg; M Mörl
Journal:  Acta Hepatogastroenterol (Stuttg)       Date:  1976-02

6.  [Multiple perifollicular fibromas of the face and neck].

Authors:  J Civatte; J P Le Tréguilly
Journal:  Bull Soc Fr Dermatol Syphiligr       Date:  1971

7.  [Perifollicular fibroma].

Authors:  B Duperrat; Y Menanteau
Journal:  Ann Dermatol Syphiligr (Paris)       Date:  1969

8.  Perifollicular fibromatosis cutis with polyps of the colon--a cutaneo-intestinal syndrome sui generis.

Authors:  O P Hornstein; M Knickenberg
Journal:  Arch Dermatol Res       Date:  1975-09-12       Impact factor: 3.017

9.  Multiple hamartoma syndrome (Cowden's disease).

Authors:  P E Weary; R J Gorlin; W C Gentry; J E Comer; K E Greer
Journal:  Arch Dermatol       Date:  1972-11
  9 in total
  4 in total

1.  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

Review 2.  Pulmonary manifestations of Birt-Hogg-Dubé syndrome.

Authors:  Nishant Gupta; Kuniaki Seyama; Francis X McCormack
Journal:  Fam Cancer       Date:  2013-09       Impact factor: 2.375

3.  Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.

Authors:  Andrew Burkett; Niamh Coffey; Eva Tomiak; Nha Voduc
Journal:  Respir Med Case Rep       Date:  2016-08-23

Review 4.  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

  4 in total

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