Caption: Figure 1: Representative agarose gel image showing nucleotide polymorphism by polymerase chain reaction (PCR) restriction fragment length polymorphism of (a) xeroderma
pigmentosum complementation group D (XPD) C22541A at codon 156 of the exon 6 (lane 1: 100bp DNA ladder, lane 2: Uncut PCR product, lane 3: Wild-type allele, lane 4: Heterozygote, and lane 5: Variant allele), (b) XPD G23592A at codon 312 in the exon 10 (Lane 1: 100bp DNA ladder, lane 2: Uncut PCR product, lane 3: Asp/Asp genotype lane 4: Asp/Asn genotype, and lane 5: Cys/Cys genotype), and (c) XPD A35931C at codon 751 in the exon 23 (lane 1: 100bp DNA ladder, lane 2: Uncut PCR product, lane 3: Lys/Lys genotype lane 4: Lys/Gln genotype, and lane 5: Gln/Gln genotype)
pigmentosum-Cockayne syndrome complex, De Sanctis Cacchione variant (dSCS) and Rothmund Thomson syndrome (RTS) were among the differential diagnosis until further investigations were carried out.
, which was found in 373 subjects (3.68%), was most commonly observed in girls in the 6-11-year age group.
A 64-year-old man with a medical history of micropapillary thyroid cancer and stage IIIb lung adenocarcinoma with no evidence of active disease for 3 years after chemotherapy and radiation presented with subjective complaints of new onset fatigue, nausea, scalp tenderness, and xeroderma
. His medications included gabapentin 300 mg four times a day for chemotherapy-induced neuropathy, erlotinib 150 mg once daily for epidermal growth factor receptor- (EGFR-) positive lung adenocarcinoma, and omeprazole 40 mg once daily for subjective gastroesophageal reflux disease.
The consequences of NER defects can be explained by three autosomal recessive syndromes: xeroderma
pigmentosum, Cockayne syndrome, and trichothiodystrophy .
A study examining light sources in the environment of a child with xeroderma
pigmentosum suggested that indoor lights emit unexpected amounts of UV light as measured by a spectral radiometer.
This outcome occurred, at least in part, because an enzyme that repairs UV-damaged skin - xeroderma
pigmentosum group A (XPA) - shifted its daily cycle to be less active in the day.
Stomach pain, muscle and bone pain, fever, headaches, tachycardia, edema, prolonged Q-T interval on electrocardiography (ECG), chest pain, hypotension, fatigue, headache, insomnia, rigors, paresthesia, anxiety, dizziness, depression, pain, dermatitis, pruritus, xeroderma
, diaphoresis, erythema, hypokalemia, hyperglycemia, nausea, sore throat, hypomagnesemia, hyperkalemia, weight gain, abdominal pain, vomiting, diarrhea, anorexia, constipation, and decreased appetite.
The importance of NER is evidenced by the severe human diseases that result from in-born genetic mutations of NER proteins such as xeroderma
pigmentosum and Cockayne's syndrome [18, 19].
Pigmentosum (XP) is a rare autosomal recessive disorder, first described by Hebra and Kaposi in 1874, which is caused by a defective nucleotide excision repair (NER) system, which produces mainly skin, ocular, and neurologic alterations [1, 2].
Its association with sun-exposed areas of the skin and its increased prevalence in patients with xeroderma
pigmentosum have supported theories that exposure to UV light plays a role in the development of KA [2,16].
demonstrated that transgenic expression of the human xeroderma
pigmentosum groupC(XPC) gene throughalentiviralvectorcould mitigate this age-related decline in pluripotency markers expression by DPSCs.