AIMS To describe a case of xeroderma pigmentosum (XP) in a middle-aged African-American woman, and to review pertinent literature on this rare clinical scenario. METHODS Case report and English literature review related to XP in black patients. RESULTS A 34-year-old African-American woman diagnosed with XP with first cutaneous squamous cell carcinoma (SCC) at age 23 years progressed to deve...

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet (UV) radiation and carcinogenic agents. Important clinical features are: Intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented l...

Xeroderma pigmentosum group A (XPA) is a hereditary dermatological disease in which hypersensitivity to ultraviolet radiation and various neurological symptoms are observed. In this study, to evaluate the degeneration occurring in the brain of XPA patients, neurological examinations by an established neurologist and 3-Tesla magnetic resonance imaging (MRI) were performed in 10 Japanese XPA pati...

Xeroderma pigmentosa (XP) is a condition inherited as an autosomal recessive trait and is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from the defect in DNA repair. The management of complications of XP, especially orofacial tumours entails an enormous surgical challenge to the clinicians. We present five cases of XP.

SV40-transformed normal, xeroderma pigmentosum (XP) and Fanconi's anemia (FA) fibroblasts have distinct repair capacities for monoadducts and DNA interstrand cross-links produced by exposure to near-UV (320-400 nm) light in the presence of 8-methoxypsoralen or angelicin. Excision repair of monoadducts occurred rapidly in normal and FA cells after exposure but not in XP cells. Cross-links were r...

The development of contact allergy in sun-exposed skin is markedly impaired in patients with xeroderma pigmentosum as compared to the responses in healthy control subjects. The degree of this immunological impairment is directly related to the severity of the cutaneous disease. These findings raise the possibility that sunlight-induced alterations of immune function may be involved in the marke...

Initiates DNA repair by binding to damaged sites with various affinities, depending upon the chemical structure of the lesion. Two proteins have been identified and implicated in (one of) the first steps of Nucleotide Excision Repair (NER), i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product. Cells from XPA patients are extremely sensitive to UV and have ve...

BACKGROUND Several previous studies were carried out on the association between xeroderma pigmentosum group G (XPG) gene polymorphisms (including rs873601 G>A, rs2094258 C>T, rs2296147 T>C, and rs751402 C>T) and the risk of gastric cancer in Chinese populations. However, their conclusions were not consistent. Therefore, this meta-analysis was performed by us to investigate the association betwe...

The xeroderma pigmentosum group C (XPC) gene plays a significant role in DNA damage recognition during nucleotide excision repair process. Polymorphisms of the XPC gene have been analyzed in numerous casecontrol studies to evaluate bladder cancer risk attributed to XPC genetic variation; however, published data on the association between XPC rs2228001 A/C and bladder cancer risk are inconclusiv...

The xeroderma pigmentosum group C (XPC) protein complex plays a key role in recognizing DNA damage throughout the genome for mammalian nucleotide excision repair (NER). Ultraviolet light (UV)-damaged DNA binding protein (UV-DDB) is another complex that appears to be involved in the recognition of NER-inducing damage, although the precise role it plays and its relationship to XPC remain to be el...