Squamous cell carcinoma (SCC) of the skin usually occurs in older patients and commonly develops from actinic keratosis. Patients with xeroderma pigmentosum (XP) are highly sensitive to ultraviolet radiation and prone to develop multiple skin malignancies and can acquire SCC at an early age. We report an 18-month-old girl with XP who presented clinically because of a bilateral facial skin mass ...

We have measured the gene-specific and strand-specific DNA repair of UV-induced cyclobutane pyrimidine dimers in the p53 tumor suppressor gene in a normal, repair-proficient human fibroblast strain and in fibroblasts from a patient with the repair deficient disorder xeroderma pigmentosum, complementation xeroderma pigmentosum group C (XP-C). In both cell strains, repair was measured in the p53 ...

introduction xeroderma pigmentosum (xp) is a rare autosomal recessive disease, which is defined by extreme sensitivity to sunlight and uv radiation and characterized by skin lesions and neuromuscular abnormalities. it is caused by a molecular defect in nucleotide excision repair genes. it has been reported that volatile anesthetics may cause genotoxic side effects or aggravation of the neurolog...

Xeroderma pigmentosum is a rare hereditary autosomal recessive genodermatosis. At present, there are many treatment options for xeroderma pigmentosum, covering medical/procedural, surgical and combined modalities. However, the quality of these interventions has not been assessed. Our study aimed to perform systematic review literature regarding pigmentosum. Multiple medical databases were acces...

Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to X...

De Sanctis-Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe inability to repair damaged DNA. Herein, we will present the case of a 9-year-old boy who had DSC syndrome with microcephaly, severe psychomotor retard...

This paper presents a case study of a child with xeroderma pigmentosum (XP). The disease results in sensitivity to UV radiation as a result of reduced activity in a defective enzyme responsible for DNA repair. Affected individuals have a variety of clinical symptoms, which may include problems of the skin and oral mucosa, ocular manifestations, and neurologic impairment. A number of precautions...

We present the case of an 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age, and taken as a whole the consensus was that this clinical picture was consistent with Xeroderma Pigmentosum (XP). We highlight the difficulties encountered due to the lack o...

Genetic alterations affecting nucleotide excision repair, the most versatile DNA-repair mechanism responsible for removal of bulky DNA adducts including ultraviolet (UV) light-induced DNA lesions, may result in the rare, recessively inherited autosomal syndromes xeroderma pigmentosum (XP), Cockayne syndrome (CS), or trichothiodystrophy (TTD). Classical approaches such as somatic cell fusions or...

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...