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Biomedical subjects

Maria Concetta Fargnoli

Publications and source records attributed to Maria Concetta Fargnoli.

At least 19 recordsLinked to original sources
PubMed2006

Dermoscopic patterns of acral melanocytic nevi and melanomas in a white population in central Italy.

OBJECTIVE: To investigate the dermoscopic features of acral melanocytic lesions in a white population in central Italy. DESIGN: Retrospective review. SETTING: University dermatology department. PATIENTS: Six hundred fifty-one Italian subjects, ranging in age from 6 months to 78 years. MAIN OUTCOME MEASURES: We retrospectively investigated all digital dermoscopic images of acral melanocytic lesions included in our database from January 1996 to May 2005. RESULTS: We retrieved digital images of 723 benign acral melanocytic lesions in 641 patients (235 males and 406 females; mean age, 26.5 years) and of 10 acral melanomas in 10 patients (7 males and 3 females; mean age, 65 years). Individual lesions were located on the soles (n=520), fingers (n=146), and palms (n=67). Among acral nevi, the parallel furrow (42.1%) was the most common pattern, followed by the latticelike (14.9%), nontypical (13.7%), fibrillar (10.8%), homogeneous (9.3%), globular (5.4%), and reticular (2.1%) patterns. The frequency of distribution of the latticelike, nontypical, fibrillar, and homogeneous patterns significantly differed (P<.001, P=.03, P<.001, and P=.03, respectively) between anatomical sites. Also, 13 acral nevi (1.8%), mainly located on the fingers, showed a new combined pattern (transition pattern) consisting of a brownish black network associated with a parallel furrow or latticelike pattern. All 10 acral melanomas showed a multicomponent dermoscopic pattern. CONCLUSIONS: In our series of acral nevi, we observed 8 dermoscopic patterns, with varying distribution by anatomical site. Identification of a specific pattern is highly suggestive of the benign or the malignant nature of any given acral melanocytic lesion.

Adolescent↗
PubMed2006

Imiquimod 5% cream in the treatment of Bowen's disease and invasive squamous cell carcinoma.

BACKGROUND: Imiquimod has been successfully used for treatment of various epithelial cutaneous neoplasms. OBJECTIVE: Our aim was to evaluate the efficacy and tolerability of imiquimod 5% cream for treatment of Bowen's disease and invasive squamous cell carcinoma (SCC) in patients who were unsuitable candidates for surgery. METHOD: Five Bowen's disease lesions and 7 invasive SCC lesions on 10 patients were treated with imiquimod once daily 5 times a week for a maximum of 16 weeks. RESULTS: After 8 to 12 weeks of treatment, 4 of 5 Bowen's disease lesions (80%) and 5 of 7 invasive SCCs (71.4%) showed complete clinicopathologic regression. The remaining 3 lesions showed partial regression after 16 weeks of treatment. No recurrence has been detected after a follow-up period of 24 to 38 months (mean, 31 months). LIMITATIONS: The study is an open-label clinical trial on a small number of selected patients, with lack of excision with serial step sections. CONCLUSION: Topical application of imiquimod 5% cream might represent an alternative topical treatment to surgery in selected cases of Bowen's disease and invasive SCC.

Adjuvants, Immunologic↗
PubMed2006

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.

The melanocortin-1 receptor (MC1R) gene is a key determinant of the physiological variation in human skin pigmentation. It is highly polymorphic, and specific MC1R allelic variants have been shown to be low-penetrance melanoma susceptibility alleles. We investigated the contribution of the MC1R genotype to the risk of sporadic cutaneous melanoma in a population in central Italy. One hundred patients with sporadic cutaneous melanoma of any stage and 100 unrelated control individuals were consecutively recruited between 1 September 2000 and 31 December 2001. Information on ethnic background and residential history, phenotypic risk factors for melanoma and ultraviolet exposure habits was collected through a standardized questionnaire and total skin examination. Sequence analysis of the entire coding region of the MC1R gene was performed. A total of 26 MC1R variants, including a novel 123_124insT allele, was identified in our population, with the most frequent allele being V60L. Carriers of high-penetrance 'R' MC1R alleles, that define MC1R variants strongly associated with the red hair colour phenotype, showed a statistically significant increase in melanoma risk [odds ratio (OR), 2.55; 95% confidence interval (CI), 1.19-5.55]. No significant association with melanoma risk was observed for carriers of 'r' variants (OR, 0.90; 95% CI, 0.45-1.82). Amongst individual MC1R variants, the R151C allele was significantly associated with melanoma, with an OR of 2.94 (95% CI, 1.04-8.31). After stratification for clinical and ultraviolet exposure risk factors, the melanoma risk associated with high-penetrance 'R' variants appeared to increase significantly, mainly in the presence of clinically atypical naevi, more than 50 melanocytic naevi, high recreational sun exposure and occupational sun exposure. These results support the contribution of high-penetrance MC1R variant alleles to genetic predisposition to sporadic cutaneous melanoma in a population in central Italy.

Adolescent↗
PubMed2006

Hypoepiluminescence microscopy of pigmented skin lesions: new approach to improve recognition of dermoscopic structures.

BACKGROUND: Hypoepiluminescence microscopy (HELM) is a new dermoscopic approach for analysis of pigmented skin lesions (PSLs) after surgical excision. OBJECTIVES: The objective was to verify whether this method could provide additional morphologic information for diagnostic or didactic purposes compared to conventional epiluminescence microscopy (ELM). PATIENTS AND METHODS: Thirty-one PSLs from 30 patients were consecutively evaluated by ELM and, after excision, by HELM. For HELM examination, the lesion was positioned on a glass slide and illuminated from above with a halogen lamp and from underneath with an LED source. All lesions were subsequently examined histopathologically. RESULTS: In 11 of 31 (35.5%) lesions, a typical pigment network, as assessed by ELM, appeared bidimensional with HELM. In 9 lesions (9/31; 29%) ELM showed a gray-blue area, while HELM allowed us to distinguish 5 lesions (5/9, 55.5%) with gray area predominant showing a lichenoid lymphocytic infiltration and few melanophages from the other 4 lesions (4/9, 44,5%) with heavy dermal accumulation of pigmented melanocytes or melanophages where a blue area was clearly visible at HELM. In 9 other cases (29%), ELM analysis revealed a central homogeneous dark brown/black pigmentation that in 7 cases was seen under HELM examination to consist of globules. CONCLUSIONS: HELM is particularly useful in evaluating heavily PSLs or structures located in the reticular dermis.

Adolescent↗
PubMed2006

High- and low-penetrance cutaneous melanoma susceptibility genes.

The aim of this review is to report the current understanding of the molecular genetics of melanoma predisposition. To date, two high-penetrance melanoma susceptibility genes, cyclin-dependent kinas inhibitor (CDKN)2A on chromosome 9p21 and cyclin-dependent kinase (CDK4) on 12q13, have been identified. Germline inactivating mutations of the CDKN2A gene are the most common cause of inherited susceptibility to melanoma. Worldwide, a few families have been found to harbor CDK4 mutations. However, predisposing alterations to familial melanoma are still unknown in a large proportion of kindreds. Other melanoma susceptibility loci have been mapped through genome-wide linkage analysis, although the putative causal genes at these loci have yet to be identified. Much ongoing research is being focused on the identification of low-penetrance melanoma susceptibility genes that confer a lower melanoma risk with more frequent variations. Specific variants of the MC1R gene have been demonstrated to confer an increase in melanoma risk. In addition, conflicting data are available on other potential low-penetrance genes encoding proteins involved in pigmentation, cell growth and differentiation, DNA repair or detoxifying of metabolites.

Cyclin-Dependent Kinase 4↗
PubMed2005

Imiquimod treatment of superficial and nodular basal cell carcinoma: 12-week open-label trial.

BACKGROUND: Imiquimod is an immune response modifier shown to be effective in basal cell carcinoma (BCC). OBJECTIVE: To evaluate the efficacy, tolerability, and response durability of imiquimod 5% cream in selected patients with superficial and/or nodular BCCs. METHODS: Seventy-five superficial and 19 nodular BCCs in 49 patients were treated with imiquimod once daily three times a week for up to 12 weeks. RESULTS: Of the 49 enrolled patients, 1 discontinued the study and 1 was lost to follow-up. After 12 weeks of treatment, a complete response occurred in 70 of 75 (93.3%) superficial BCCs and a partial response in 4 of 75 (5.3%) superficial BCCs. Ten of 19 (52.6%) nodular BCCs cleared after 12 weeks, whereas 7 (36.8%) showed partial remission. Adverse side effects were limited to local skin reactions. Recurrence was observed in 2 of 70 (2.9%) successfully treated superficial BCCs 6 and 8 months after treatment discontinuation. No recurrence was detected in 68 of 70 (97.1%) superficial BCCs and in 10 successfully treated nodular BCCs after 12 to 34 months of follow-up (mean 23 months). CONCLUSIONS: In our patient population, treatment of superficial BCCs with topical imiquimod for 12 weeks produced an excellent clinical response overall, with complete remission maintained after a mean of 23 months.

Adjuvants, Immunologic↗
PubMed2005

Dermoscopic evolution of a congenital combined nevus in childhood.

BACKGROUND: A combined nevus most commonly consists of a blue nevus in combination with a Clark or Spitz nevus. Dermoscopically, combined nevus can mimic melanoma owing to the presence of dermoscopic features common to both types of lesions. Benign clinical and dermoscopic changes can occur in nevi over time, especially in children and young adults. OBJECTIVE: To describe the dermoscopic evolution of a congenital combined nevus showing unusual dermoscopic features. METHODS: Digital dermoscopic analysis was performed at the initial visit and after 8 months. The lesion was surgically excised and histopathologically examined. RESULTS: An asymptomatic plaque with a central blue area and peripheral brown pigmentation located on the back of a 13-year-old boy was diagnosed dermoscopically as combined nevus. Dermoscopic analysis 8 months later showed color changes from steel blue to gray-blue and black in the central area of the lesion, an increased number of blue-black dots or globules, and peripheral irregular streaks. Histopathology revealed typical features of a congenital combined nevus (blue nevus + compound nevus). CONCLUSION: Over time, congenital combined nevus may show clinical and dermoscopic changes in size, color, and structure. Surgical excision is recommended when clinical and dermoscopic features are equivocal and the diagnosis of melanoma cannot be ruled out.

Adolescent↗