Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xeroderma pigmentosum (XP), a rare hereditary syndrome, is characterized by a hypersensitivity to solar irradiation due to a defect in nucleotide excision repair resulting in a predisposition to squamous and basal cell carcinomas as well as malignant melanomas appearing at a very early age. The mutator phenotype of XP cells is evident by the higher levels of UV specific modifications found in key regulatory genes in XP skin tumors compared to those in the same tumor types from the normal population. Thus, XP provides a unique model for the study of unrepaired DNA lesions, mutations and skin carcinogenesis. The high level of ras oncogene activation, Ink4a-Arf and p53 tumor suppressor gene modifications as well as alterations of the different partners of the mitogenic sonic hedgehog signaling pathway (patched, smoothened and sonic hedgehog), characterized in XP skin tumors have clearly demonstrated the major role of the UV component of sunlight in the development of skin tumors. The majority of the mutations are C to T or tandem CC to TT UV signature transitions, occurring at bipyrimidine sequences, the specific targets of UV induced lesions. These characteristics are also found in the same genes modified in sporadic skin cancers but with lower frequencies confirming the validity of studying the XP model. The knowledge gained by studying XP tumors has given us a greater perception of the contribution of genetic predisposition to cancer as well as the consequences of the many alterations which modulate the activities of different genes affecting crucial pathways vital for maintaining cell homeostasis.
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PMID:The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors. 1574 37

Genetic syndromes including basal cell nevus syndrome (BSNS), xeroderma pigmentosum (XP), and epidermodysplasia verruciformis (EV) predispose the individual to skin cancer. Basal cell carcinomas (BCCs) often develop in patients with BCNS and XP. One of the aims of surveillance examination in these patients is to detect BCC while the tumors are still small and easy to manage. Dermoscopy, by allowing the visualization of arborizing vessels, ovoid nests, nonaggregated blue-gray globules, and spoke-wheel and leaf-like structures, can facilitate in the early detection of BCC. Patients with XP are also at risk for developing squamous cell carcinoma (SCC). Dermoscopy can assist in the early detection of these cancers by allowing the observer to visualize focal glomerular vessels, which is a common feature seen in SCC. This feature can also assist in detecting SCC developing in other syndromes such as EV and epidermolysis bullosa (EB). In addition to helping in the detection of BCC and SCC, dermoscopy can also help detect melanoma in individuals with XP and evaluate nevi developing in those with EB. This review will discuss how dermoscopy can be used in the management of patients with BSNS, XP, EV, and EB and will discuss the dermoscopic findings of vascular lesions, including pyogenic granuloma, hemangioma, port-wine stain, and lymphangioma circumscriptum.
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PMID:Dermoscopy for the pediatric dermatologist, part ii: dermoscopy of genetic syndromes with cutaneous manifestations and pediatric vascular lesions. 2299 4


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