Results 91 to 100 of about 22,799 (245)

Peripheral Neurolopathy in Xeroderma Pigmentosum

Pediatric Neurology Briefs, 1990
The peripheral nerve pathology in two autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) is reported from the Tokyo Medical and Dental University, Tokyo Metropolitan Neurological Hospital, and Tokyo Metropolitan Kita Medical
J Gordon Millichap
doaj   +1 more source

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

Nature Communications, 2020
Xeroderma Pigmentosum group C (XP-C) is a rare genetic disorder characterised by deficient DNA repair leading to skin and internal cancer, but the latter is not well understood molecularly.
Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev   +5 more
doaj   +1 more source

Concomitant Xeroderma pigmentosum and disseminated small plaque psoriasis: first case of an antinomic association [PDF]

, 2008
We present the case of an eighteen-year-old Caucasian white boy who was diagnosed with xeroderma pigmentosum type A at age 5 and who experienced over the past year disseminated small plaque psoriasis confirmed with skin punch biopsy.
BJ Nickoloff, C Ottaviani, Denis Malvy, Khaled Ezzedine, Michel Candaele, Michel Heenen, N Kanda, N Soufir, T Horio, T Jimbo, Thierry Simonart, V Chaturvedi, W Kolgen, W Remy   +13 more
core   +2 more sources

A case of melanoma in xeroderma pigmentosum

Indian Journal of Pathology and Microbiology, 2009
Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. [1] It is a rare autosomal recessive disorder characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development due to cellular hypersensitivity to ultraviolet radiation resulting from a defect in DNA repair.
Kamal Ahmed, T Narayana Rao, A Bhagyalaxmi, K Venkatachalam, T S Mohana Rao   +4 more
openaire   +4 more sources

German Cohort Observational Study to Investigate the Short‐ and Long‐Term Safety and Clinical Effectiveness of Afamelanotide 16 mg (SCENESSE) in Patients With Erythropoietic Protoporphyria (EPP)

Photodermatology, Photoimmunology &Photomedicine, Volume 41, Issue 2, March 2025.
ABSTRACT Background Afamelanotide 16 mg (SCENESSE) is the first approved treatment for erythropoietic protoporphyria (EPP). EPP is a rare autosomal recessive inherited disorder of the haem biosynthesis pathway, where patients experience severe and debilitating acute phototoxicity. It affects at least one in 140,000 of the European population.
Bernhard Homey, Kathrin Schelonke, Carla Marie Schlegel, Daniela Bruch‐Gerharz, Karsten Weller, Lea Kiefer, Ulrich Stölzel, Petra Staubach‐Renz, Joanna Wegner, Regine Keller‐Melchior, Gillian Walker, Malgorzata Bochno, Pilar Bilbao   +12 more
wiley   +1 more source

Symptoms and Course of Xeroderma Pigmentosum

Pediatric Neurology Briefs, 2008
Sixteen Finnish patients with xeroderma pigmentosum (XP) were followed for up to 23 years, and their neurological symptoms and course determined in a study at Turku University Central Hospital, Finland; Erasmus University, Rotterdam, The Netherlands ...
J Gordon Millichap
doaj   +1 more source

Evolutionary conservation of excision repair in Schizosaccharomyces pombe: Evidence for a family of sequences related to the Saccharomyces cerevisiae RAD2 gene [PDF]

, 1993
Cells mutated at the rad13 locus in the fission yeast, Schizosaccharomyces pombe are deficient in excision-repair of UV damage. We have cloned the S.pombe rad13 gene by its ability to complement the UV sensitivity of a rad13 mutant.
Al-Harithy, Rowyda, Carr, Antony M, Lehmann, Alan R, Murray, Johanne M, Sheldrick, Katherine S, Watts, Felicity Z   +5 more
core   +2 more sources

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr, Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Kara S. Lewis   +8 more
wiley   +1 more source

Xeroderma Pigmentosum: Variable Expressions among Three Siblings

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.
M Srinivasa Raju, G N Suma, S M Ravi Prakash, Sumit Goel   +3 more
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Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

The Application of Clinical Genetics, 2018
Marina Guinda Ribeiro,1 Gabriella Lucato Zunta,1 Jéssica Silva Santos,1 Aparecida Machado Moraes,2 Carmen Silvia Passos Lima,2 Manoela Marques Ortega1 1Department of Post Graduate Program in Health Science, São Francisco University, Bragan ...
Ribeiro MG, Zunta GL, Santos JS, Moraes AM, Lima CSP, Ortega MM   +5 more
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