Literature DB >> 1200700

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

O P Hornstein, M Knickenberg.   

Abstract

In the present study, a peculiar fibromatosis cutis in two siblings has been reported the dermatosis being characterized by innumerable perifollicular fibromas on face, neck and trunk as well as multiple fibromata pendulantia. Since the father allegedly had skin lesions resembling those of his two affected children, an inherited condition is assumed for the disease manifesting itself rather late in age. In the female patient, several adenomatous colon polyps one being transformed into carcinoma were found. Since the association of distinct epithelial and mesenchymal tumours of the skin and the cranial bones with multiple colon polyps is typical for Gardner's syndrome, we have discussed in detail the possiblity of an unknown variant of it. On the other hand, most features of Gardner's syndrome (cutaneous and subcutaneous epidermoid cysts, desmoid tumours, generalized osteomas, a marked multitude of colon polyps, early manifestation of skin and bone changes) were absent in both cases whereas, to our knowledge, in Gardner's syndrome perifollicular fibromas have never been seen. Since perifollicular fibromas are organoid tumours of the mesenchymal hair sheath being clearly defined both clinically and histologically, they must not be confused with the equally well characterized cutaneous tumours of Gardner's syndrome. We are prone to assume that the (irregular?) ASSOCAITION OF MULTIPLE PERIFOLLICULAR FIBROMAS AND COLON POLYPS Represents a distinct nosological entity neither identical with Gardner's syndrome nor with any other known dermo-intestinal syndrome. Thus, perifollicular fibromatosis should alert the dermatologist to consider periodic thorough examination for intestinal polyps the more as they may change into malignant growth.

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Mesh:

Year:  1975        PMID: 1200700     DOI: 10.1007/bf00582068

Source DB:  PubMed          Journal:  Arch Dermatol Res            Impact factor:   3.017


  42 in total

1.  GASTRIC POLYPOSIS AND SOFT TISSUE TUMORS. A VARIANT OF GARDNER'S SYNDROME.

Authors:  H S YAFFEE
Journal:  Arch Dermatol       Date:  1964-06

2.  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

3.  [Perifollicular fibroma (Zackheim and Pinkus)].

Authors:  G K STEIGLEDER
Journal:  Hautarzt       Date:  1962-08       Impact factor: 0.751

4.  Gardner's syndrome: heredofamilial adenomatosis associated with "soft and hard" fibrous tumors and epidermoid cysts.

Authors:  B J KAPLAN
Journal:  Dis Colon Rectum       Date:  1961 Jul-Aug       Impact factor: 4.585

5.  Multiple polyposis, Gardner's syndrome and desmoid tumors.

Authors:  W G SMITH
Journal:  Dis Colon Rectum       Date:  1958 Sep-Oct       Impact factor: 4.585

6.  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

Review 7.  Multiple sebaceous adenomas and gastrointestinal carcinoma.

Authors:  G F Sciallis; R K Winkelmann
Journal:  Arch Dermatol       Date:  1974-12

8.  [Contribution to Gardner's syndrome].

Authors:  W Fuhrmann; K H Kärcher; H Pfeifer; U W Schnyder
Journal:  Dtsch Med Wochenschr       Date:  1968-01-26       Impact factor: 0.628

Review 9.  Gastrointestinal polyposis.

Authors:  H J Bussey
Journal:  Gut       Date:  1970-11       Impact factor: 23.059

10.  Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face.

Authors:  E G Muir; A J Bell; K A Barlow
Journal:  Br J Surg       Date:  1967-03       Impact factor: 6.939

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  32 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.  Flecked chorioretinopathy associated with Birt-Hogg-Dubé syndrome.

Authors:  P Walter; B Kirchhof; B Korge; K Heimann
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-06       Impact factor: 3.117

3.  Generalized dermal perifollicular fibromas with polyps of the colon.

Authors:  O P Hornstein
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

4.  Pleural Covering Application for Recurrent Pneumothorax in a Patient with Birt-Hogg-Dubé Syndrome.

Authors:  Hiroki Ebana; Mizuto Otsuji; Teruaki Mizobuchi; Masatoshi Kurihara; Kazuhisa Takahashi; Kuniaki Seyama
Journal:  Ann Thorac Cardiovasc Surg       Date:  2015-09-11       Impact factor: 1.520

5.  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

6.  Glycogen: A must have storage to survive stressful emergencies.

Authors:  Elite Possik; Arnim Pause
Journal:  Worm       Date:  2016-03-04

Review 7.  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

8.  Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.

Authors:  Yoko Gunji; Taeko Akiyoshi; Teruhiko Sato; Masatoshi Kurihara; Shigeru Tominaga; Kazuhisa Takahashi; Kuniaki Seyama
Journal:  J Med Genet       Date:  2007-05-11       Impact factor: 6.318

9.  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

10.  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

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