Two cases of xeroderma pigmentosum in brothers without complicated by malignant changes were presented. The clinical and histopathological studies revealed characteristic features of the disease and literatures reviewed.
Humans ; Ichthyosis* ; Siblings* ; Xeroderma Pigmentosum*

Two cases of xeroderma pigmentosum in brothers without complicated by malignant changes were presented. The clinical and histopathological studies revealed characteristic features of the disease and literatures reviewed.
Humans ; Ichthyosis* ; Siblings* ; Xeroderma Pigmentosum*

No abstract available.
Diagnosis* ; DNA* ; Ichthyosis* ; Xeroderma Pigmentosum*

No abstract available
DNA Repair* ; DNA* ; Endonucleases* ; Skin Neoplasms* ; Skin* ; Xeroderma Pigmentosum

Xeroderma Pigmentosum is a hereditary disorder characterized sunlight sensitivity multiple cutaneous malignancies, usually basal and squamous cell carcinoma and frequent ocular complication. The auther has presented recently treated one case of limbal squamous cell carcinoma associated with Xeroderma Pigmentosum in 15 years old male. It was reviewed clinically with the literature.
Adolescent ; Carcinoma, Squamous Cell* ; Humans ; Ichthyosis* ; Male ; Sunlight ; Xeroderma Pigmentosum*

No abstract available.
DNA Repair* ; DNA* ; Ichthyosis* ; Skin Neoplasms* ; Skin* ; Ultraviolet Rays* ; Xeroderma Pigmentosum*

Malignant fibrous histiocytoma (MFH) is a pleomorphic sarcoma which most frequently arises in the soft tissue. About two-thirds of the tumors are located within skeletal muscle; relatively few cases have been reported arising in the skin. The micromorphology of the tumor is characterized by storiform histiocyte-like cells, malignant giant cells and bizzare mitoses. We report here a case of cutaneous MFH developed in xeroderma pigmentosum occurred in a middle-aged man.
Giant Cells ; Histiocytoma, Malignant Fibrous* ; Mitosis ; Muscle, Skeletal ; Sarcoma ; Skin ; Xeroderma Pigmentosum

Xeroderma pigmentosurn is a photosensitive hereditary disorder and especially rare in Korea. A 30-year old male patient had been suffered from walnut sized tumor and several ulcerated papules on the face, and scattered brownish macules on the sun-exposed area. Clinical features and histopathologic findings were consistent with malignant malanoma and basal cell epithelioma developing in a xeroderma pigmentosum respectively. Malignant melanoma was surgically excised.
Adult ; Carcinoma, Basal Cell* ; Humans ; Ichthyosis* ; Juglans ; Korea ; Male ; Melanoma* ; Ulcer ; Xeroderma Pigmentosum*

Xeroderma pigmentosum is autosomal recessive, degenerative disease generated by abnormal repair of DNA damaged by ultraviolet radiation and environmental mutagens. DeSanctis-Cacchione syndrome is the most severe form of xeroderma pigmentosum variant. This syndrome is characterized with microcephaly, progressive mental retardation and deterioration, retarded growth and sexual development, sensorineural deafness, and cerebellar ataxia, choreoathetsis, quadriparesis. We describe the case of a 17 year old female patient, which fits into Desanctis-Cacchione syndrome clinically.
Adolescent ; Cerebellar Ataxia ; Deafness ; DNA ; Female ; Humans ; Intellectual Disability ; Microcephaly ; Mutagens ; Quadriplegia ; Sexual Development ; Xeroderma Pigmentosum

BACKGROUND AND OBJECTIVEIt has been proven that close relation was existed between XPD polymorphism G312A and lung cancer risk. However, some of the results are not consistent. The aim of this study is to explore the impact of DNA repair gene XPD polymorphism G312A on lung cancer risk.

METHODSThe literatures eligible from PUBMED, EMBASE, CNKI and WANGFANG database were enrolled in the meta-analysis. Heterogeneity among combined studies was assessed. The pooled OR and 95%CI were calculated. The sensitivity analysis and the publication bias were evaluated by RevMan 5.0 and STATA 11.0.

RESULTSThere were 6554 cases and 8322 controls from 18 studies included in the meta-analysis. In total, individuals with 312A allele and 312AA genotype showed increased lung cancer risk (A vs. G: OR = 1.06, 95% CI: 1.00-1.12; AA vs. AG+GG: OR = 1.20, 95% CI: 1.06-1.36; AA vs. GG: OR = 1.19, 95% CI: 1.04-1.36). In Asians, individuals with 312AA genotype showed 6.15 fold and 6.20 fold increased lung cancer risk in recessive genetic model and homogenous contrast respectively (AA vs. AG+GG: OR = 7.15, 95% CI: 1.90-26.94; AA vs. GG: OR = 7.20, 95% CI: 1.91-27.15). In Caucasians, individuals with 312AA genotype showed a 15% increased lung cancer risk (OR = 1.15, 95% CI: 1.01-1.31).

CONCLUSIONXPD 312A allele is risk allele for lung cancer. Individuals with AA genotype have higher risk of lung cancer, especially in Asians.