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...

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

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...

purpose: to specify histopathologic features of corneal involvement in a case with xeroderma pigmentosum (xp). case report: a 19-year-old man with a clinical diagnosis of xp presented with bilateral corneal leukoma and decreased visual acuity predominatly in his right eye. penetrating keratoplasty was performed in the right eye due to severe corneal opacity, vascularization and lipid deposition...

Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition xeroderma pigmentosum. Xeroderma pigmentosum is characterized by photo-hypersensitivity of sun-exposed tissues, and by a several thousand-fold increase in the risk of developing malignant neoplasms of the skin and of the eyes. Mutations in xeroderma pigmentosum genes that regulate nucleotide ...

a 7 year old boy with desanctis-cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

BACKGROUND Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many studies, xeroderma pigmentosum complementation group C is the most common form of xeroderma pigmentosu...

INTRODUCTION Xeroderma pigmentosum is a rare autosomal recessive disease that causes changes in skin pigmentation, precancerous lesions and neurological abnormalities. It is a defect in the nucleotide excision repair mechanism. It has been reported that volatile anesthetics has a possible genotoxic side effect and deranged nucleotide excision repair in cells obtained from a patient with xeroder...