Literature DB >> 16450945

[Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases].

Mohamed Zghal1, Nadia El-Fekih, Becima Fazaa, Mohamed Fredj, Raja Zhioua, Insaf Mokhtar, Amel Mrabet, Mohamed Ferjani, Sadok Gaigi, Med Ridha Kamoun.   

Abstract

This is a retrospective study about 49 cases of xeroderma pigmentosum (XP). The goal was to determine the clinical features of XP in Tunisia. Our study revealed the predominance of a moderate form. Malignant skin tumors showed early. Squamous cell carcinoma (SCC) remainsed the most frequent skin malignancy in all clinical forms. Neurological abnormalities were more frequent in the moderate form. Mental retardation and peripheral neuropathy were the most common signs.

Entities:  

Mesh：

Year:  2005        PMID： 16450945

Source DB:  PubMed          Journal:  Tunis Med        ISSN： 0041-4131


  9 in total

1.  Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.

Authors:  Salima Bensenouci; Lotfi Louhibi; Hubert De Verneuil; Khadidja Mahmoudi; Nadhira Saidi-Mehtar
Journal:  Biomed Res Int       Date:  2016-06-20       Impact factor: 3.411

2.  Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.

Authors:  Esteban Uribe-Bojanini; Sara Hernandez-Quiceno; Alicia María Cock-Rada
Journal:  Case Rep Med       Date:  2017-02-01

3.  Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Authors:  Zineb Kindil; Mohamed Amine Senhaji; Amina Bakhchane; Hicham Charoute; Soumia Chihab; Sellama Nadifi; Abdelhamid Barakat
Journal:  BMC Res Notes       Date:  2017-12-06

4.  Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Authors:  Asma Chikhaoui; Sahar Elouej; Imen Nabouli; Meriem Jones; Arnaud Lagarde; Meriem Ben Rekaya; Olfa Messaoud; Yosr Hamdi; Mohamed Zghal; Valerie Delague; Nicolas Levy; Annachiara De Sandre-Giovannoli; Sonia Abdelhak; Houda Yacoub-Youssef
Journal:  Front Genet       Date:  2019-02-14       Impact factor: 4.599

5.  Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.

Authors:  Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah
Journal:  Genes (Basel)       Date:  2021-02-20       Impact factor: 4.096

6.  Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

Authors:  Asma Chikhaoui; Ichraf Kraoua; Nadège Calmels; Sami Bouchoucha; Cathy Obringer; Khouloud Zayoud; Benjamin Montagne; Ridha M'rad; Sonia Abdelhak; Vincent Laugel; Miria Ricchetti; Ilhem Turki; Houda Yacoub-Youssef
Journal:  Orphanet J Rare Dis       Date:  2022-03-05       Impact factor: 4.123

Review 7.  Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.

Authors:  Tito Brambullo; Michele Rosario Colonna; Vincenzo Vindigni; Stefano Piaserico; Giuseppe Masciopinto; Mariarosaria Galeano; Alfio Luca Costa; Franco Bassetto
Journal:  Biomed Res Int       Date:  2022-07-18       Impact factor: 3.246

8.  Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Authors:  Hiva Fassihi; Mieran Sethi; Heather Fawcett; Jonathan Wing; Natalie Chandler; Shehla Mohammed; Emma Craythorne; Ana M S Morley; Rongxuan Lim; Sally Turner; Tanya Henshaw; Isabel Garrood; Paola Giunti; Tammy Hedderly; Adesoji Abiona; Harsha Naik; Gemma Harrop; David McGibbon; Nicolaas G J Jaspers; Elena Botta; Tiziana Nardo; Miria Stefanini; Antony R Young; Robert P E Sarkany; Alan R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  2016-02-16       Impact factor: 11.205

9.  Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.

Authors:  Khouloud Zayoud; Ichraf Kraoua; Asma Chikhaoui; Nadège Calmels; Sami Bouchoucha; Cathy Obringer; Clément Crochemore; Dorra Najjar; Sinda Zarrouk; Najoua Miladi; Vincent Laugel; Miria Ricchetti; Ilhem Turki; Houda Yacoub-Youssef
Journal:  Genes (Basel)       Date:  2021-11-29       Impact factor: 4.096
  9 in total

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