Xeroderma pigmentosum.

XERODERMA PIGMENTOSUM WITH NEUROLOGICA L COMPLICATIONS: THE DESA NCTIS-CA CCHIONE SYNDROME

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

Atypical Fibroxanthoma In a Patient with Xeroderma Pigmentosum

 SUMMARY X. Pis a rare autosomal recessive genodermatosis characteriseJ by photophohia, severe solar sensitivity, cutaneous pigmentary changes, xerosis and early Jevdopment of mucocutaneous and ocular cancer particularly in sun exposeJ skin. Tumors whichinclude solar keratosis, cutaneous horn, keratoachanthoma, squamous and basal cell carcinoma, malignant melanoma and angioma may developeJ in...

XPE ( xeroderma pigmentosum , complementation group

Xeroderma pigmentosum: a case report and review of the literature.

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 novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

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...

Relationship of DNA repair to carcinogenesis in xeroderma pigmentosum.

Radioautograms of intact ultraviolet (UV)-irradiated epider mis from a patient with xeroderma pigmentosum showed no detectable abnormality in UV-induced thymidine-3H incorpo ration. This result is consistent with findings in this patient's UV-irradiated skin fibroblasts and lymphocytes and contrasts with findings in cells from typical xeroderma pigmentosum patients, all of which exhibit an impa...