Results 31 to 40 of about 15,819 (153)

Xeroderma Pigmentosum: Clinical and Genetic Features and Therapeutic Approaches

Вопросы современной педиатрии, 2021
Xeroderma pigmentosum is rare genetic disorder characterized by increased skin sensitivity to damaging ultraviolet (UV) light. First symptoms manifest at early age in most cases (up to 75%).
Tatyana S. Belysheva, Tatyana V. Nasedkina, Iryna S. Kletskaya, Anastasiya S. Volkova, Vera V. Semenova, Timur T. Valiev   +5 more
doaj   +1 more source

Xeroderma Pigmentosum A Multidisciplinary Approach [PDF]

European Medical Journal Dermatology, 2013
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair. Affected individuals are unable to repair ultraviolet radiation (UVR)-induced DNA damage, leading to a variety of clinical manifestations: a dramatic increase in ...
Mieran Sethi, Alan R. Lehmann, Hiva Fassihi   +2 more
doaj  

Xeroderma pigmentosum and rhabdoid tumor of the kidney: A very rare case report association

Radiology Case Reports, 2022
The aim of this observation was to report an exceptional association of xeroderma pigmentosum and rhabdoid renal tumor in a 7-year-old girl, diagnosed with imaging and treated by adjuvant chemotherapy.
Fatima zohra Ahsayen, MD, Hanane El aggari, MD, Zakaria Haddadi, MD, Anass Haloui, MD, Amal Bennani, MD, Imane Skiker, MD, Imane Kamaoui, MD   +6 more
doaj   +1 more source

Squamous Cell Carcinoma in African Children with Xeroderma Pigmentosum: Three Case Reports

Case Reports in Dermatology, 2016
Introduction: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths.
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop   +9 more
doaj   +1 more source

SKIN CANCER IN CHILDREN WITH XERODERMA PIGMENTOSUM [PDF]

, 2023
Introduction: Xeroderma pigmentosum) is a rare disease, inherited in an autosomal recessive manner with disturbances in the repair of deoxyribonucleic acid (DNA) which often occur in malignancy.
Soemitro, Monty Priosodewo, Yohana, Raden, Meildi, Maria, Abdurahman, Maman, Usman, Hermin Aminah, Rizki, Kiki Akhmad   +5 more
core   +1 more source

Hydrogen peroxide induced genomic instability in nucleotide excision repair-deficient lymphoblastoid cells [PDF]

, 2010
Copyright @ 2010 Gopalakrishnan et al; licensee BioMed Central Ltd.Background The Nucleotide Excision Repair (NER) pathway specialises in UV-induced DNA damage repair. Inherited defects in the NER can predispose individuals to Xeroderma Pigmentosum (XP).
Gopalakrishnan, K, Kalpana Gopalakrishnan, Predrag Slijepcevic, Ting, APL, Grace Low, Low, G.K.M, Slijepcevic, P, M Prakash Hande, Hande, P, Aloysius Ting, Srikanth, P, Low, GKM, Prarthana Srikanth, Ting, A.P.L, Hande, M.P   +14 more
core   +1 more source

Xeroderma pigmentosum with ocular involvement and squamous cell carcinoma: A case report

Dermatology Reports, 2019
Xeroderma Pigmentosum is a rare, autosomal recessive genetic disorder, characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Bernadya Yogatri Anjuwita Saputri, Iskandar Zulkarnain   +1 more
doaj   +1 more source

CYSTIC FOREIGN BODY GIANT CELL GRANULOMA IN XERODERMA PIGMENTOSUM [PDF]

Basrah Journal of Surgery, 2014
CYSTIC FOREIGN BODY GIANT CELL GRANULOMA IN XERODERMA PIGMENTOSUM Ali Abbas Alshawi FFDRCSI, FDSRCS. Assist. Prof. Consultant Maxillofacial Surgeon, Basrah General Hospital, Dean of Basrah Dental College, Basrah, Iraq.
Ali Abbas Alshawi
doaj   +1 more source

Regulation of nucleotide excision repair by UV-DDB: prioritization of damage recognition to internucleosomal DNA [PDF]

, 2011
How tightly packed chromatin is thoroughly inspected for DNA damage is one of the fundamental unanswered questions in biology. In particular, the effective excision of carcinogenic lesions caused by the ultraviolet (UV) radiation of sunlight depends on ...
Naegeli, H, Nina Kaczmarek, Andreas Glas, Glas, Andreas, Carell Thomas, Glas, A, Carell, Thomas, Fei Jia, Kaczmarek Nina, Glas Andreas, Jia Fei, Carell, T, Andreas Luch, Naegeli Hanspeter, Fei, Jia, Naegeli, Hanspeter, Luch Andreas, Kaczmarek, Nina, Thomas Carell, Hanspeter Naegeli, Luch, A, Luch, Andreas, Fei, J, Kaczmarek, N, Luch, A., Fei, J., Carell, T., Kaczmarek, N., Glas, A., Naegeli, H., Carell T, Fei J, Glas A, Luch A, Naegeli H, Kaczmarek N   +35 more
core   +2 more sources

Xeroderma pigmentosum

Orphanet Journal of Rare Diseases, 2011
Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers.
Lehmann Alan R, McGibbon David, Stefanini Miria   +2 more
doaj   +1 more source