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

Xeroderma pigmentosum is an inheritable autosomal recessive DNA repair deficient syndrome characterized by a high predisposition to skin cancers. An elevated proportion of tumors from xeroderma pigmentosum patients harbor ultraviolet-induced mutations (CC:GG > TT:AA tandem transitions) of the p53 and/or the INK4a-ARF genes. Here, we report the clinical and molecular features of a 12 y old xeroderma pigmentosum patient who, in addition to severe cutaneous clinical symptoms, also had three unusual tumors, a mediastinal lymphoblastic lymphoma, an atypical fibroxanthoma, and an epithelioid hemangioma. Single strand conformation polymorphism and sequencing analysis of the p53 and INK4a-ARF genes were carried out in DNA from normal skin and different tumors (four actinic keratosis, two microinvasive squamous cell carcinomas, one basal cell carcinoma, and one atypical fibroxanthoma) from the patient. After characterization of the xeroderma pigmentosum C complementation group, we found unexpectedly that this patient also carried a germline mutation of the INK4a-ARF locus affecting the p16INK4A reading frame. Three different somatic mutations that all harbor the signature of ultraviolet light (two of p16INK4A and one of p53) were also detected in the basal cell carcinoma. We hypothesize that the germline mutation of p16INK4A, in association with the nucleotide excision repair defect, could explain the patient's unusual phenotype. Furthermore, this study confirms that concomitant somatic mutations of INK4a-ARF and p53 occur in some xeroderma pigmentosum associated tumors, and seem to accumulate during tumor progression rather than the initiation step.
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PMID:Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient. 1248 39

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

Xeroderma pigmentosum is an uncommon inherited autosomal recessive disorder. Affected patients have a 2000-fold amplified risk of skin cancer. There is an inability to repair the damage to genetic material caused by ultraviolet light. Basal cell carcinoma is the most commonly associated carcinoma followed by squamous cell carcinoma and melanoma. It is a highly mutilating disorder where occurrence of multiple cancers and repeated surgical treatments result in serious psycho-social implications. We present a case of diagnosed xeroderma pigmentosum in a 25 year old male who presented with multiple lesions and non-healing ulcers on face. Four surgical specimens from left lower eyelid, chin, right cheek and upper lip were taken for histopathological diagnosis. Microscopic examination revealed five different tumors from biopsies of these sites - specimen from right cheek revealed two morphologically distinct tumors. The tumors include basosquamous carcinoma, nodular basal cell carcinoma, adenoid basal cell carcinoma, malignant melanoma and cavernous hemangioma.
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PMID:Xeroderma Pigmentosum - a disfiguring disease: Single patient with 5 simultaneous tumors on face. 3099 39