Literature DB >> 18346259

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review.

Giuseppe Stinco1, Gianantonio Governatori, Paolo Mattighello, Pasquale Patrone.   

Abstract

Rothmund-Thomson syndrome (RTS) is a rare genodermatosis characterized by early poikilodermatous skin lesions, often combined with juvenile cataracts, photosensitivity and bone defects. Data in the published work indicate that there is an increased risk of RTS patients developing malignant tumors. Herein, we report the multiple skin carcinomas observed in a case of RTS and review the published work on the occurrence of malignant tumors in these patients. We report the case of a 63-year-old male with RTS who developed multiple cutaneous neoplasms (three basal cell carcinomas, three squamous cell carcinomas and Bowen's disease) over the previous 15 years. A published work review confirmed that RTS is a genetic condition that predisposes subjects to the development of bone tumors, especially at an early age, and skin tumors at an adult age. Therefore, alongside careful osteoarticular monitoring to identify a bone tumor quickly, during the life of a patient suffering from the syndrome, it is just as important to take appropriate preventive action and monitor the possible onset of skin tumors.

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Year:  2008        PMID: 18346259     DOI: 10.1111/j.1346-8138.2008.00436.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN: 0385-2407            Impact factor:   4.005


  22 in total

1.  Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.

Authors:  Marie L Rossi; Avik K Ghosh; Tomasz Kulikowicz; Deborah L Croteau; Vilhelm A Bohr
Journal:  DNA Repair (Amst)       Date:  2010-05-06

2.  Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome.

Authors:  Ilknur Altunay; Neslihan Fisek; Gonca Gokdemir; Damlanur Sakız; Umran Cetincelik
Journal:  Int Wound J       Date:  2010-09-21       Impact factor: 3.315

3.  Rothmund-Thomson Syndrome-like RECQL4 truncating mutations cause a haploinsufficient low bone mass phenotype in mice.

Authors:  Wilson Castillo-Tandazo; Ann E Frazier; Natalie A Sims; Monique F Smeets; Carl R Walkley
Journal:  Mol Cell Biol       Date:  2020-12-23       Impact factor: 4.272

4.  Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome.

Authors:  Kara Nadeau; Michele Brule
Journal:  Case Rep Genet       Date:  2018-10-25

5.  Clinical utility gene card for: Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Alain Verloes
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246

6.  Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Authors:  Anas Salih; Susumu Inoue; Nkechi Onwuzurike
Journal:  BMJ Case Rep       Date:  2018-01-23

Review 7.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

Review 8.  Cutaneous lesions of the nose.

Authors:  Michael Sand; Daniel Sand; Christina Thrandorf; Volker Paech; Peter Altmeyer; Falk G Bechara
Journal:  Head Face Med       Date:  2010-06-04       Impact factor: 2.151

Review 9.  Roles of Werner syndrome protein in protection of genome integrity.

Authors:  Marie L Rossi; Avik K Ghosh; Vilhelm A Bohr
Journal:  DNA Repair (Amst)       Date:  2010-01-13

Review 10.  Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging.

Authors:  Dharmendra Kumar Singh; Byungchan Ahn; Vilhelm A Bohr
Journal:  Biogerontology       Date:  2008-12-15       Impact factor: 4.277

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