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Maider Ibarrola-Villava,
Maria Peña-Chilet,
Lara P Fernandez,
Jose A Aviles,
Matias Mayor,
Manuel Martin-Gonzalez,
Cristina Gomez-Fernandez,
Beatriz Casado,
Pablo Lazaro,
Ana Lluch,
Javier Benitez,
Rafael Lozoya,
Enrique Boldo, Angel Pizarro,
Conrado Martinez-Cadenas,
Gloria Ribas
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ABSTRACT: Base excision repair (BER) and nucleotide excision repair (NER) pathways eliminate a wide variety of DNA damage, including UV photoproducts. The ability of each individual to repair DNA damage following different causes might explain at least in part the variability in cancer susceptibility. Moreover, inflammatory response to UV exposure may further contribute to skin carcinogenesis by oxidative stress mechanisms. Single nucleotide polymorphisms in genes encoding various DNA-repair enzymes and oxidative stress factors may be candidate low-penetrance variants with a role in susceptibility to different cancers, particularly in those with aetiologies linked to environmental exposure, such as malignant melanoma (MM).
In this case-control study, 684 Spanish sporadic MM patients and 406 cancer-free control subjects were included and the role of 46 polymorphisms belonging to 16 BER and NER genes as well as 11 genes involved in oxidative stress processes were investigated.
One polymorphism was identified to be individually associated with MM in the Spanish population. The variant was found in the NOS1 oxidative stress gene (rs2682826; p-value=0.01). These results suggest a putative role of oxidative stress processes in the genetic predisposition to melanoma.
To the authors' knowledge, this is the largest DNA repair-related SNP study in melanoma risk conducted in the Spanish population up to now. Furthermore, it also represents a comprehensive genetic study of several oxidative stress polymorphisms tested in relation to MM susceptibility.
European journal of cancer (Oxford, England: 1990) 06/2011; 47(17):2618-25. · 4.12 Impact Factor
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ABSTRACT: We report an exceptional case of umbilical basal cell carcinoma (BCC) in a 21-year-old man, whose correct diagnosis was suggested by dermoscopy during initial complete body mole mapping. Although BCC is a common skin tumor, only 7 cases of BCC arising within the umbilicus have been reported previously. To the best of our knowledge, our patient is unique because of his age, being the youngest case of umbilical BCC described in the literature. Complete examination and digital dermoscopic monitoring let us identify an asymptomatic, nonpigmented papule at the umbilicus. Dermoscopy images revealed signs of superficial ulceration and several types of vascular structures, which gave us the clue for the diagnosis and helped us differentiate it from other lesions such as Spitz nevus or amelanotic melanoma. The diagnosis was confirmed with histopathology after excision and there was no evidence of relapse in the following four years.
Dermatology online journal 01/2011; 17(1):16.
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Maider Ibarrola-Villava,
Lara P Fernandez,
Santos Alonso,
M Dolores Boyano,
Maria Peña-Chilet,
Guillermo Pita,
Jose A Aviles,
Matias Mayor,
Cristina Gomez-Fernandez,
Beatriz Casado, [......], Angel Pizarro,
Mariano Casado,
Gregorio Carretero,
Rafael Botella-Estrada,
Eduardo Nagore,
Pablo Lazaro,
Ana Lluch,
Javier Benitez,
Conrado Martinez-Cadenas,
Gloria Ribas
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ABSTRACT: As the incidence of Malignant Melanoma (MM) reflects an interaction between skin colour and UV exposure, variations in genes implicated in pigmentation and tanning response to UV may be associated with susceptibility to MM. In this study, 363 SNPs in 65 gene regions belonging to the pigmentation pathway have been successfully genotyped using a SNP array. Five hundred and ninety MM cases and 507 controls were analyzed in a discovery phase I. Ten candidate SNPs based on a p-value threshold of 0.01 were identified. Two of them, rs35414 (SLC45A2) and rs2069398 (SILV/CKD2), were statistically significant after conservative Bonferroni correction. The best six SNPs were further tested in an independent Spanish series (624 MM cases and 789 controls). A novel SNP located on the SLC45A2 gene (rs35414) was found to be significantly associated with melanoma in both phase I and phase II (P<0.0001). None of the other five SNPs were replicated in this second phase of the study. However, three SNPs in TYR, SILV/CDK2 and ADAMTS20 genes (rs17793678, rs2069398 and rs1510521 respectively) had an overall p-value<0.05 when considering the whole DNA collection (1214 MM cases and 1296 controls). Both the SLC45A2 and the SILV/CDK2 variants behave as protective alleles, while the TYR and ADAMTS20 variants seem to function as risk alleles. Cumulative effects were detected when these four variants were considered together. Furthermore, individuals carrying two or more mutations in MC1R, a well-known low penetrance melanoma-predisposing gene, had a decreased MM risk if concurrently bearing the SLC45A2 protective variant. To our knowledge, this is the largest study on Spanish sporadic MM cases to date.
PLoS ONE 01/2011; 6(4):e19271. · 4.09 Impact Factor
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ABSTRACT: Laugier-Hunziker syndrome (LHS) is an acquired, benign, macular hyperpigmentation of the lips and oral mucosa, often associated with pigmentation of the nails. Volar acral maculae on the palms and fingertips of patients affected by LHS are a typical feature of this rare entity. Dermoscopic examination of these maculae has been described in a previous report, in which authors found a parallel-furrow pattern. We describe two cases in which a parallel-ridge pattern (PRP) was found on the dermoscopic examination of the pigmented acral lesions. Histological examination showed increased melanin in basal keratinocytes, which was most prominent in those located at the crista intermedia profunda, that is, in the epidermal rete ridges underlying the surface ridges. In our study, dermoscopic features of the pigmented maculae found on LHS differed from those previously described. In addition, by means of this case report, the histological features of these lesions are described for the first time, showing an excellent correlation with dermoscopy. The reported cases prove that although the PRP is very specific of melanoma, it is also possible to find it in benign lesions. Therefore, we must be familiar with the differential diagnosis of PRP, and take into consideration the clinical context in which we find it. Further studies are needed to increase our knowledge on the histological and dermoscopic features of acral pigmented maculae of LHS.
The Journal of Dermatology 11/2010; 37(11):980-4. · 1.49 Impact Factor
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ABSTRACT: Gorlin-Goltz syndrome (GGS) is an autosomal-dominant disease characterized by the early onset of multiple basal cell carcinomas (BCCs), among other findings. Clinically, the BCCs may appear as soft pedunculated neoplasms that can be mistaken for true acrochordons.
We sought to describe the dermatoscopic characteristics of small acrochordon-like or polypoid BCCs in a child with GGS, and to perform histopathologic correlation.
Acrochordon-like growths from a child with GGS were studied. Clinical records and digital dermatoscopic images were collected, and excision and histopathologic examination of the most representative lesions were performed.
Some acrochordon-like lesions showed specific dermatoscopic criteria for BCC, including multiple blue-gray globules and arborizing telangiectasia. Other polypoid lesions, especially the smaller ones, exhibited characteristics that suggested BCC, such as isolated blue-gray globules, small blue-gray ovoid nests, and fine elongated telangiectases.
Conclusions are limited by the small sample size.
Dermatoscopy may be a useful diagnostic tool to analyze acrochordon-like lesions in children and to facilitate early diagnosis and treatment of BCCs in patients with GGS.
Journal of the American Academy of Dermatology 03/2009; 60(5):857-61. · 3.99 Impact Factor
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ABSTRACT: We present a female patient who developed mucosal and skin hyperpigmentation due to metastatic malignant melanoma. Diffuse cutaneous melanosis is a rare entity that complicates a small percentage of metastatic melanomas, confering a fatal prognosis. We discuss briefly the current evidence on pathogenesis of melanosis arising from metastatic melanoma.
TheScientificWorldJOURNAL 02/2008; 8:556-7. · 1.66 Impact Factor
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ABSTRACT: The treatment of skin metastases of melanoma can be difficult in many cases because of the patients age, as well as the number, size and location of the lesions. We present the case of an 82-year-old male with melanoma skin metastases on the scalp, which responded satisfactorily to treatment with 5 % imiquimod cream. Imiquimod is a topical immunomodulator with antiviral and antineoplastic action. This case, along with others that have recently been published, supports the usefulness of this treatment in selected cases of melanoma skin metastases, at least for palliative purposes.
Actas Dermo-Sifiliográficas 04/2005; 96(2):111-5.
