Results 1 to 10 of about 15,819 (153)

Acute Myeloid Leukemia in a Patient With Xeroderma Pigmentosum: A Case Report [PDF]

Clinical Case Reports
Acute myeloid leukemia may occur in patients with xeroderma pigmentosum at a younger age and can be associated with complex cytogenetics and poor treatment response, highlighting the importance of regular hematologic monitoring.
Mina Soryal, Mohamed Mahmoud Marey, Malak A. Hassan, Rawan El‐Sayed, Enas Kamal Abdalaziz Seyed, Ashraf Elghandour   +5 more
doaj   +3 more sources

Contrasting Ocular Manifestations of Xeroderma Pigmentosum in Siblings [PDF]

Clinical Case Reports
Xeroderma Pigmentosum (XP) can present with markedly different ocular severities even among siblings sharing the same genetic background. Early detection and preventive care are crucial to reduce the risk of vision‐ and life‐threatening malignancies.
Mohammad Taher Rajabi, Ali Asadzadeh, Seyed Mohsen Rafizadeh, Amirhossein Aghajani, Amin Zand   +4 more
doaj   +2 more sources

Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model [PDF]

Nature Communications
T helper 17 cells play essential roles in mucosal immunity and autoimmunity, yet the mechanisms that protect these cells from oxidative DNA damage remain poorly defined.
Jefferson Antônio Leite, Natalia Notarberardino Bos, Luísa Menezes-Silva, Eloísa Martins da Silva, Giovana da Silva Leandro, Guilherme Comparotto Moreira de Goes, Patrick da Silva, Samuel Oliveira, Eder Soares de Almeida Santos, Hedden Ranfley, Ilaria Palagi, Magaiver Andrade-Silva, Camila Pontes Ferreira, José Arimatéa de Oliveira Nery Neto, Victor Yuji Yariwake, Marcella Cipelli, Beatriz Leocata, Talita Gonçalves, Anthony Gabry da Silveira, Sabrina Baroni, Howard L. Weiner, Thomas G. Hofmann, Stefanie Scheu, Bruno Junior Neves, Nadja Cristhina de Souza-Pinto, Leandro Machado Colli, Ari Waisman, Sandra Marcia Muxel, Carlos Frederico Martins Menck, Niels Olsen Saraiva Câmara   +29 more
doaj   +2 more sources

A case of rapidly growing conjunctival squamous cell carcinoma in a 3-year-old child with xeroderma pigmentosum: a case report [PDF]

Journal of Medical Case Reports
Background Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by hypersensitivity to ultraviolet light owing to mutation of nucleotide excision repair genes.
Birhanu Kassie Reta, Micheale Hailu Weldegebriel, Hindeya Hailu Hagos, Nebiat Zerabiruk Embaye, Welday Tadesse Fisseha, Kibra Sebuh Kidanemariam   +5 more
doaj   +2 more sources

Treatment of corneoscleral mixed hemangioma by intrastromal lenticule transplantation in a case of xeroderma pigmentosum: a case report [PDF]

BMC Ophthalmology
Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disease. The ocular manifestations in XP patients usually include severe photophobia, conjunctivitis, corneal opacification, ocular surface squamous neoplasia (OSSN) which often ...
Yingwei Wang, Li Cai, Hua Feng, Xiaofei Wu, Hongmin Ke, Jerry Ma, Wanmei Tang, Kunling Chen, Qiong Wang   +8 more
doaj   +2 more sources

Xeroderma Pigmentosum with Malignant Cutaneous Tumors in Two Siblings [PDF]

Egyptian Journal of Plastic and Reconstructive Surgery, 2021
Xeroderma Pigmentosum with Malignant Cutaneous Tumors inTwo ...
Ahmed Tohamy, Ahmed Ali
doaj   +1 more source

Xeroderma pigmentosum and acute myeloid leukemia: a case report

Journal of Medical Case Reports, 2021
Background Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood.
H. Bencharef, M. Lamchahab, D. Dassouli, S. Sraidi, B. Guennoun, N. Hda, B. Oukkache, A. Quessar   +7 more
doaj   +1 more source

Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report

Journal of Medical Case Reports, 2021
Background Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer.
Masataka Matsumoto, Kazumi Kaneshiro, Kiyonobu Takatsuki   +2 more
doaj   +1 more source

Xeroderma pigmentosum: an updated review

Drugs in Context, 2022
Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation.
Alexander KC Leung, Benjamin Barankin, Joseph M Lam, Kin Fon Leong, Kam Lun Hon   +4 more
doaj   +1 more source

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

Journal of Medical Case Reports, 2022
Background Xeroderma pigmentosum is an extremely serious genetic disorder defined by sensitivity to sunlight, resulting in sunburn and pigment changes.
Ezgi Aysu Şahin, Ekim Zihni Taşkıran, Pelin Özlem Şimşek Kiper, Burça Aydın, Eda Utine   +4 more
doaj   +1 more source