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G Ital Dermatol Venereol 2020 Jun;155(3):349-354

Laboratories of Experimental Research in Transplantation, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by severe cutaneous and ocular sensitivity to sunlight, leading to skin cancer. Most XP patients belong to the XP complementation groups (XP-A to XP-G), due to mutations in genes involved in nucleotide excision repair (NER). On the other hand, the XP Variant type (XP-V, OMIM#278750), which accounts for about 20% of all XP patients, is associated with normal NER function. Read More

Mutat Res 2020 04 29;852:503164. Epub 2020 Feb 29.

Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

In central Brazil, in the municipality of Faina (state of Goiás), the small and isolated village of Araras comprises a genetic cluster of xeroderma pigmentosum (XP) patients. The high level of consanguinity and the geographical isolation gave rise to a high frequency of XP patients. Recently, two founder events were identified affecting that community, with two independent mutations at the POLH gene, c. Read More

J Eur Acad Dermatol Venereol 2020 Oct 21;34(10):2392-2401. Epub 2020 May 21.

Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, São Paulo, Brazil.

Background: Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to the DNA repair system.

Objectives: To describe the clinical and molecular findings in a cohort of 32 Brazilian individuals who received a clinical diagnosis of XP. Read More

Genet Mol Biol 2019 13;43(1 suppl 1):e20190046. Epub 2019 Dec 13.

Department of Medical Genetics, INSERM U781 CHU Félix Guyon, La Réunion, France.

Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a new homozygous XPC mutation at the 3'-end of the intron12 (IVS 12-1G>C) leading to the absence of XPC protein. Read More

Blood 2019 06;133(25):2636-2638

The University of Chicago.