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

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...

Xeroderma pigmentosum (XP) is a rare disorder, inherited as an autosomal recessive gemodermatosis. It is characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. It results from mutation in seven nucleotide excision repair gene (XP-A to XP-G complement groups) and post repli...

CS: Cockayne syndrome ERCC5: Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene NER: Nucleotide excision repair UV: Ultraviolet WES: Whole exome sequencing XP: Xeroderma pigmentosum XP-G: Xeroderma pigmentosum complementation group G INTRODUCTION Xeroderma pigmentosum (XP) is an autosomal recessive genodermatosis caused by a germline loss of function in DN...

We have cloned human xeroderma pigmentosum group A complementing (XPAC) cDNA that encodes a "zinc finger" protein with a predicted size of 31 kDa. To detect the xpac protein in cells, we raised antibody against a recombinant human xpac protein. Using this antibody, we identified the xpac protein in the nucleus of cells. In normal human cells, 40- and 38-kDa proteins were detected by sodium dode...

PURPOSE To report the histopathologic features of corneal involvement in a patient with xeroderma pigmentosum (XP). CASE REPORT A 19-year-old man with 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. The corneal butt...

Cells from a subset of patients with the DNA-repair-defective disease xeroderma pigmentosum complementation group E (XP-E) are known to lack a DNA damage-binding (DDB) activity. Purified human DDB protein was injected into XP-E cells to test whether the DNA-repair defect in these cells is caused by a defect in DDB activity. Injected DDB protein stimulated DNA repair to normal levels in those st...

The Xeroderma pigmentosum [XP] is a rare inherited skin disorder and transmitted in an autosomal recessive manner. aim of the present article to report XP case with oral manifestations discuss role dental professional management this entity. A 5 year old male presented lentigos all over predominated photoexposed areas. Oral hygiene was good affection important. No lesions were observed lips, to...

Xeroderma pigmentosum variant (XP-V) is a subtype of xeroderma pigmentosum (XP) disease with typical pigmentation and types of cancer in the oral maxillofacial and other sun-exposed regions. Few factors of tumor proneness in XP-V have been completely elucidated with the exception of the POLH [which encodes DNA polymerase η (pol η)] mutation. The aim of the present study was to identify the POLH...