Literature DB >> 16272260

Genetics of skin appendage neoplasms and related syndromes.

D A Lee1, M E Grossman, P Schneiderman, J T Celebi.   

Abstract

In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.

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Year:  2005        PMID: 16272260      PMCID: PMC1735949          DOI: 10.1136/jmg.2004.025577

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  91 in total

1.  Generalized hair-follicle hamartoma, associated with alopecia, aminoacidura, and myasthenia gravis.

Authors:  A C Brown; R G Crounse; R K Winkelmann
Journal:  Arch Dermatol       Date:  1969-04

2.  Multiple sebaceous gland tumors and internal carcinoma: Torre's syndrome.

Authors:  J Bitran; E V Pellettiere
Journal:  Cancer       Date:  1974-03       Impact factor: 6.860

3.  Multiple sebaceous tumors.

Authors:  D Torre
Journal:  Arch Dermatol       Date:  1968-11

4.  Nevoid basal cell carcinoma of the palm.

Authors:  W B Taylor; J W Wilkins
Journal:  Arch Dermatol       Date:  1970-12

5.  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

Review 6.  Skin cancers in renal-transplant recipients occur more frequently than previously recognized in a temperate climate.

Authors:  C Bordea; F Wojnarowska; P R Millard; H Doll; K Welsh; P J Morris
Journal:  Transplantation       Date:  2004-02-27       Impact factor: 4.939

Review 7.  DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention.

Authors:  Roland Kruse; Thomas Ruzicka
Journal:  Trends Mol Med       Date:  2004-03       Impact factor: 11.951

8.  Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity.

Authors:  J P Welch; R S Wells; C B Kerr
Journal:  J Med Genet       Date:  1968-03       Impact factor: 6.318

Review 9.  Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.

Authors:  R Pilarski; C Eng
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

Review 10.  Role of APC and DNA mismatch repair genes in the development of colorectal cancers.

Authors:  Satya Narayan; Deodutta Roy
Journal:  Mol Cancer       Date:  2003-12-12       Impact factor: 27.401

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  20 in total

1.  Genetic study in a case of birt-hogg-dubé syndrome.

Authors:  Geon Park; Hae Ryun Kim; Chan Ho Na; Kyu Chul Choi; Bong Seok Shin
Journal:  Ann Dermatol       Date:  2011-10-31       Impact factor: 1.444

2.  Congenital hypotrichosis, eruptive milia, and palmoplantar pits: a case report with review of literature.

Authors:  Gk Tharini; M Subashini; S Anupama Roshan; D Prabhavathy; S Jayakumar
Journal:  Int J Trichology       Date:  2012-01

Review 3.  CYLD: a tumor suppressor deubiquitinase regulating NF-kappaB activation and diverse biological processes.

Authors:  S-C Sun
Journal:  Cell Death Differ       Date:  2010-01       Impact factor: 15.828

4.  Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives.

Authors:  Hani Ibrahim Channir; Thomas van Overeem Hansen; Simon Andreasen; Christina Westmose Yde; Katalin Kiss; Birgitte Wittenborg Charabi
Journal:  Head Neck Pathol       Date:  2017-02-16

5.  NF-κB and cancer: a paradigm of Yin-Yang.

Authors:  Gutian Xiao; Jing Fu
Journal:  Am J Cancer Res       Date:  2010-12-06       Impact factor: 6.166

6.  [Hereditary head and neck tumors].

Authors:  S Schwarz-Furlan; C Brase; P Stockmann; I Furlan; A Hartmann
Journal:  Pathologe       Date:  2010-10       Impact factor: 1.011

7.  Posttraumatic proliferating trichilemmal tumour on the frontal region of the scalp: a case report.

Authors:  Ilker Sengul; Demet Sengul
Journal:  Cases J       Date:  2010-03-20

Review 8.  Inherited skin tumour syndromes.

Authors:  Sarah Brown; Paul Brennan; Neil Rajan
Journal:  Clin Med (Lond)       Date:  2017-12       Impact factor: 2.659

Review 9.  Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Authors:  Patrick W Blake; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

10.  Epigenetic changes in Basal Cell Carcinoma affect SHH and WNT signaling components.

Authors:  Tjinta Brinkhuizen; Karin van den Hurk; Véronique J L Winnepenninckx; Joep P de Hoon; Ariënne M van Marion; Jürgen Veeck; Manon van Engeland; Maurice A M van Steensel
Journal:  PLoS One       Date:  2012-12-17       Impact factor: 3.240

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