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Two unusual tumors in a patient with xeroderma pigmentosum: atypical fibroxanthoma and basosquamous carcinoma
- Source :
- Journal of cutaneous pathology. 26(9)
- Publication Year :
- 1999
-
Abstract
- Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, characterized by a genetic defect in DNA repair. The consequence is a high incidence of skin cancers on sun-exposed cutaneous surfaces of affected children. First lesions appear in the first years of life: telangiectasia, actinic keratosis and keratoacanthomas. Squamous cell and basal cell carcinomas are the most frequent neoplasms. We report the case of a 6-year-old girl affected with XP, who developed two unusual tumors: an atypical fibroxanthoma and a basosquamous carcinoma. In both tumors, immunohistochemical study showed abnormal accumulation of the p53 protein, suggesting the presence of mutation of the p53 tumor suppressor gene. Such p53 mutations may be ultraviolet (UV)-induced, as they are frequently observed in tumors occurring in XP.
- Subjects :
- Pathology
medicine.medical_specialty
Histology
Xeroderma pigmentosum
Skin Neoplasms
DNA repair
Photodermatosis
Dermatology
Pathology and Forensic Medicine
Neoplasms, Multiple Primary
Carcinoma, Basosquamous
medicine
Biomarkers, Tumor
Humans
Telangiectasia
Child
Pigmentation disorder
Xeroderma Pigmentosum
Histiocytoma, Benign Fibrous
business.industry
Actinic keratosis
Atypical fibroxanthoma
medicine.disease
Immunohistochemistry
Epidermoid carcinoma
Female
medicine.symptom
Tumor Suppressor Protein p53
business
Subjects
Details
- ISSN :
- 03036987
- Volume :
- 26
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Journal of cutaneous pathology
- Accession number :
- edsair.doi.dedup.....9ba0ba9b80da9ad953da023f980a1924