Literature DB >> 17367233

Olmsted syndrome in an Iranian family: report of two new cases.

Reza Yaghoobi1, Mohammad Omidian, Niloofar Sina, Seyyed-Arash Abtahian, Mahmoud-Reza Panahi-Bazaz.   

Abstract

Olmsted syndrome is a rare congenital entity characterized by combination of symmetrical, sharply-defined palmoplantar keratoderma with flexion deformities of the digits, periorificial keratosis, perianal involvement, onychodystrophy, and variable leukokeratosis. Herein, we report two new related male patients--the third familial cases of Olmsted syndrome--one with the full-blown spectrum of the syndrome, and the other with early signs and symptoms of the disorder.

Entities:  

Mesh:

Year:  2007        PMID: 17367233     DOI: 07102/AIM.0022

Source DB:  PubMed          Journal:  Arch Iran Med        ISSN: 1029-2977            Impact factor:   1.354


  9 in total

Review 1.  Golgi post-translational modifications and associated diseases.

Authors:  Sven Potelle; André Klein; François Foulquier
Journal:  J Inherit Metab Dis       Date:  2015-05-13       Impact factor: 4.982

2.  TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.

Authors:  Manoj Yadav; Chandan Goswami
Journal:  Channels (Austin)       Date:  2016-10-18       Impact factor: 2.581

3.  Olmsted syndrome with oral involvement, including premature teeth loss.

Authors:  Ahmed K Alotaibi; Mazen K Alotaibi; Suliman Alsaeed; Ahmad Alyahya; Charles F Shuler
Journal:  Odontology       Date:  2014-01-29       Impact factor: 2.634

4.  Olmsted syndrome: report of two cases.

Authors:  G K Tharini; N Hema; S Jayakumar; B Parveen
Journal:  Indian J Dermatol       Date:  2011 Sep-Oct       Impact factor: 1.494

Review 5.  Olmsted syndrome: clinical, molecular and therapeutic aspects.

Authors:  Sabine Duchatelet; Alain Hovnanian
Journal:  Orphanet J Rare Dis       Date:  2015-03-17       Impact factor: 4.123

6.  Olmsted Syndrome in a Family.

Authors:  Rajyalaxmi Konathan; Sainath Kumar Alur
Journal:  Int J Trichology       Date:  2016 Oct-Dec

Review 7.  MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

Authors:  Natarin Caengprasath; Thanakorn Theerapanon; Thantrira Porntaveetus; Vorasuk Shotelersuk
Journal:  J Transl Med       Date:  2021-03-20       Impact factor: 5.531

8.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096

9.  Olmsted Syndrome: Rare Occurrence in Four Siblings.

Authors:  Atishay Bukharia; Sweta Komal; V Madhu Sudhanan; Shyam Sundar Chaudhary
Journal:  Indian J Dermatol       Date:  2016 May-Jun       Impact factor: 1.494

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.