Presence Of Freckles Research Articles

A potential biomarker for age-related macular degeneration disease: iris freckles

BackgraundTo determine the potential relationship between age-related macular degeneration and iris freckles.MethodIn this case-control study, iris photographs of 300 eyes of 300 patients diagnosed with age-related macular degeneration and 300 eyes of 300 healthy volunteers were obtained with the help of a high-resolution mobile phone camera. The evaluated iris photographs were classified according to the Descriptive Iris Color Classification Scale.ResultsThe average age of the AMD group is 73.05 ± 6.93, and the average age of the control group is 73.43 ± 5.72. (p = 0.124) While freckles were present in 200 (66.7%) of the patients in the AMD group, freckles were not observed in 100 patients (33.3%) of AMD group. While freckles were present in 142 (47.3%) of the patients in the control group, freckles were not observed in 158 of control group(52.7%). There was a significant difference in the presence of freckles between the two groups. (p < 0.001) The average number of freckles in the AMD group was 3.97 ± 3.07, and the number of freckles in the control group was 3.06 ± 2.55. (p = 0.001)ConclusionWe think that evaluation of iris details, especially the presence of iris freckles, should be used routinely in age-related macular degeneration screening. The risk of age-related macular degeneration can be predicted by evaluating iris details, which is an easy and inexpensive method.

Przewidywanie cech wyglądu człowieka na podstawie markerów DNA do celów medyczno-sądowych i kryminalistycznych

This study aims to present the current state of knowledge on the DNA-based prediction of human externally visible characteristics of an unknown person based on the crime scene biological material left behind. This DNA sample is referred to as a “biological witness” and the procedure itself is called forensic DNA phenotyping (FDP). The analytic part of this work is based on scholarly articles published between 2015 and 2021. The electronic search of relevant references was conducted according to the PRISMA methodology in March 2021 at EBSCO Discovery Service (EDS) at the Adam Mickiewicz University library and Google Scholar. The molecular basis of FDP, DNA markers used to predict sex, age, biogeographic origin and externally visible traits such as pigmentation (skin, eye and hair colour), hair morphology, facial morphology, presence of freckles, body height, body weight (obesity), male pattern baldness and myopia were described. Furthermore, methodological difficulties resulting from the polygenic inheritance of the studied traits, as well as social and ethical problems accompanying forensic DNA phenotyping were discussed. Finally, key themes for future research related to forensic DNA phenotyping were outlined.

MARKETING, HEALTH LITERACY, AND THE USE OF MELASMA AND FRECKLE PREVENTION AND TREATMENT PRODUCTS

The research goals of this study were to identify the association between marketing and health literacy and the use of products to prevent and treat melasma and freckles among working-age women in northeast Thailand. One thousand one hundred forty-three working-age women were randomly selected using multistage sampling from 4 provinces in northeast Thailand to participate in a self-administered structured questionnaire. A generalized linear mixed model (GLMM) evaluated the associations between product use and the studied factors. The majority of respondents (59.49%; 95% CI = 50.09 – 62.33) were current users of these products. Factors associated with product use were adequate to excellent health literacy (adj OR = 2.88, 95% CI = 2.51-3.42, p &lt; 0.001), product marketing (adj OR = 2.20, 95% CI = 1.59-2.84, p &lt; 0.001), presence of freckles (adj OR = 2.17, 95% CI = 1.53-2.79, p &lt; 0.001), and melasma (adj OR = 2.05: 95%CI = 1.52-2.67, p &lt; 0.001). The other significant covariates were age 30-44 years (adj OR = 2.40, 95% CI = 1.78-2.81, p &lt; 0.001), having a bachelor’s degree or higher (adj. OR = 2.03, 95%CI = 1.61-2.11, p 0.005), and average monthly income &gt; 15,000 THB (adj. OR = 2.08, 95% CI = 1.60-2.91, p &lt; 0.001). About sixty percent of working-age women were current users of melasma and freckle prevention/treatment products. Health literacy and product marketing were positively associated with product use. Other associated factors were facial skin conditions, age, education level, and income. The study findings provide pertinent information to policymakers and the community about implementing educational health literacy programs.

Skin cancer knowledge and prevention practices among Turkish bus drivers.

To determine skin cancer knowledge levels and prevention practices among bus drivers. The cross sectional study was conducted in Aydin province, western Turkey, from April to June 2018, and comprised bus drivers who came to the primary health centre. Data was collected using a predesigned questionnaire based on sociodemographic characteristics and the Skin Cancer and Sun Knowledge Scale. Data was analysed using SPSS 16. There were 125 male bus drivers with a mean age of 42.0±9.1 years. There was a significant relationship between history of skin cancer in the family and the presence of freckles (p<0.05). Those who were exposed to the sun for one or two hours a day scored higher on the knowledge scale than those with a sun exposure of >2 hours a day (p<0.05). The bus drivers did not have enough knowledge about the critical significance of skin cancer.

Predicting Nasal Soft Tissue Envelope Thickness for Rhinoplasty: A Model Based on Visual Examination of the Nose.

Predicting nasal soft tissue envelope (STE) thickness is an important component of the preoperative evaluation for rhinoplasty that presently lacks validated tools. Assess for patient facial features and factors that can help predict nasal STE thickness. Retrospective review and prospective assessment conducted at an academic tertiary referral center. This study included 190 adult patients and four expert raters. The patients had high-resolution maxillofacial CT scans and standardized facial photographs on file and did not have a history of nasal fracture, septal perforation, rhinoplasty, or other surgery or medical conditions altering nasal form. Assess each face for features that could help predict nasal STE thickness: sebaceous quality of skin, visibility of nasal tip cartilages, presence of freckles, presence of telangiectasias, Fitzpatrick skin type, patient age, sex, and body mass index (BMI). Measure actual nasal STE thickness using high-resolution CT scans. Analyze which facial features and patient factors help predict nasal STE thickness. Pearson correlations were calculated between actual nasal STE thickness and patient facial features and factors. These showed that more sebaceous skin, telangiectasias, higher Fitzpatrick skin type, male sex, and higher BMI were associated with a thicker nasal STE. Increased visibility of nasal tip cartilages, freckles, lower Fitzpatrick skin type, female sex, and lower BMI were associated with a thinner nasal STE. There are patient facial features and factors that can help surgeons predict nasal STE thickness before rhinoplasty. An accurate prediction of nasal STE thickness can improve preoperative planning for rhinoplasty, allowing implementation of pre-, intra-, and post-operative treatments to optimize the nasal STE, which may ultimately improve patient outcomes and satisfaction.

Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study.

IntroductionPhototype has been associated with an increased risk of prostate cancer, and it is yet unknown if it is related to other hormone-dependent cancers, such as breast cancer or whether this association could be considered causal.MethodsWe examined the association between the phototype and breast and prostate cancers using a Mendelian randomization analysis. We studied 1,738 incident cases of breast cancer and another 817 cases of prostate cancer. To perform a Mendelian randomization analysis on the phototype—cancer relationship, a genetic pigmentation score was required that met the following criteria: (1) the genetic pigmentation score was associated with phototype in controls; (2) the genetic pigmentation score was not associated with confounders in the relationship between phototype and cancer, and (3) the genetic pigmentation score was associated with cancer only through its association with phototype. Once this genetic score is available, the association between genetic pigmentation score and cancer can be identified as the association between phototype and cancer.ResultsThe association between the genetic pigmentation score and phototype in controls showed that a higher genetic pigmentation score was associated with fair skin, blond hair, blue eyes and the presence of freckles. Applying the Mendelian randomization analysis, we verified that there was no association between the genetic pigmentation score and cancers of the breast and prostate.ConclusionsPhototype is not associated with breast or prostate cancer.

Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.

The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation-Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.

Melasma-like hyperpigmentation induced by intense pulsed light treatment in Chinese individuals

Background: Symmetric melasma-like hyperpigmentation (MLH) has been identified in several patients following intense pulsed laser (IPL) treatment sessions. These patients exhibited no typical signs of melasma prior to IPL therapy. Objectives: To investigate the incidence of MLH in Chinese patients receiving IPL treatment and to discuss potential causative factors for this condition and potential preventive measures. Methods: 675 patients with skin types III–IV who were treated with IPL were retrospectively studied. Results: MLH was noted in 20 cases (20/675, 2.96%) within 3 months following IPL treatment session. All the patients had a pigmentary disorder prior to their IPL treatment s, the most common being photoaging or the presence of freckles. The lesions seen in 14 of the 20 cases (14/20, 70%) were multiple pigmented lesions along a wide distribution of the skin with undefined borders. Six of the cases had a strong post-treatment local reaction which also may have contributed to the MLH. In 2 cases, the original skin concern became worse following the IPL therapy and may have been a reason for the formation of MLH. In 6 cases, we noted that these individuals were not regular users of sunscreen post-therapy, despite our recommendations, which also may have contributed to the formation of their MLH. Conclusions: The adverse event and formation of IPL-induced MLH seen in Chinese individuals does have a relationship to a primary pigmentary lesion(s) and trend toward melasma prior to the IPL therapy. The IPL parameters chosen should be suitable for the skin condition being treated and should follow the recommendations of the manufacturer's default settings prior to undertaking the treatments. Post-therapy skin care and the use of appropriate sun protection are also important factors in preventing MLH.

Risk prediction models for melanoma: a systematic review.

Melanoma incidence is increasing rapidly worldwide among white-skinned populations. Earlier diagnosis is the principal factor that can improve prognosis. Defining high-risk populations using risk prediction models may help targeted screening and early detection approaches. In this systematic review, we searched Medline, EMBASE, and the Cochrane Library for primary research studies reporting or validating models to predict risk of developing cutaneous melanoma. A total of 4,141 articles were identified from the literature search and six through citation searching. Twenty-five risk models were included. Between them, the models considered 144 possible risk factors, including 18 measures of number of nevi and 26 of sun/UV exposure. Those most frequently included in final risk models were number of nevi, presence of freckles, history of sunburn, hair color, and skin color. Despite the different factors included and different cutoff values for sensitivity and specificity, almost all models yielded sensitivities and specificities that fit along a summary ROC with area under the ROC (AUROC) of 0.755, suggesting that most models had similar discrimination. Only two models have been validated in separate populations and both also showed good discrimination with AUROC values of 0.79 (0.70-0.86) and 0.70 (0.64-0.77). Further research should focus on validating existing models rather than developing new ones.

Neonatal blue light phototherapy increases café-au-lait macules in preschool children.

Neonatal blue light phototherapy (NBLP) is an effective treatment for hyperbilirubinaemia. Concerning the influence on melanocytic nevi, conflicting studies have been published. To assess the role of NBLP according to the incidence of melanocytic nevi in preschool children, a cohort of 104 5- to 6-year-old children were included. The case group consisted of 52 NBLP-exposed children, while the control group (n = 52) never had NBLP and was matched regarding age, gender, gestational age and skin phototype. Six dizygotic twins were included with one twin having received NBLP, respectively. The following parameters were recorded: nevi count, presence of freckles, café-au-lait macules, skin phototype and previous history of sun exposure. There was no significant association between nevi count and exposure to NBLP (median nevi count 17.0 compared to 18.5 in controls). No significant difference was also found in the dizygotic twin pairs with a median nevi count of 10.0 (with NBLP) compared to 14.5 (without NBLP). However, a significantly higher prevalence of café-au-lait macules was found in children with NBLP (mean count 0.5) than in children without NBLP (mean count 0.2; p = 0.001). Significant predictors for the number of melanocytic nevi included skin phototype, sun exposure and vacations in the South. In this study, NBLP had no significant influence on the development of melanocytic nevi, but on café-au-lait macules which was a new finding. Differences with comparable studies regarding age, differentiation between nevi and other pigmented lesions as well as dose and type of NBLP need to be taken into account for further investigations.

Development of an individual score for melanoma risk

Melanoma is one of the fastest growing cancers worldwide. We need to have tools to identify patients with high risk of melanoma. We carried out a case-control study and tested three methods to develop an individual score of melanoma risk, usable in routine practice. All cases included newly diagnosed invasive cutaneous melanoma of stage I or II (6th American Joint Committee on Cancer) seen in 2007 at the Skin Cancer Unit of Nantes Hospital, France. Controls included 1500 consecutive patients consulting their general practitioners. A self-administrated questionnaire was used for assessment of melanoma risk factors. Three methods of scoring were used and compared: one with common relative risks reported in the literature, one with odds ratios estimated by logistic regression, and a combinatorial analysis. The method based on combinatorial analysis permitted one to obtain a simple rule to define individuals at risk: the association of the rule 'presence of at least three risk factors or presence of more than 20 naevi on the arms' for the patients aged under 60 years and 'presence of at least three risk factors or presence of freckles' for the patients aged 60 years and above (sensitivity: 63.2% and specificity: 68.8%). The tool we propose is easy to use every day in routine health care to select patients with high risk of melanoma. It can be assessed without any computer or calculator and is based on the self-assessment of the melanoma risk factors by the patient and thus is not medical time consuming.

Abstract A90: Nonmelanoma skin cancer epidemiology and DNA repair in Puerto Ricans

Abstract Introduction: Nonmelanoma skin cancers (NMSC) including basal cell and squamous cell carcinomas are the most common human cancers. DNA damage can be caused by exposure to solar UV light and other types of radiation, dietary factors, and ageing. The relationship between DNA damage and oncogenesis suggests that diminished DNA repair capacity (DRC) is involved in tumorigenesis. Purpose: The purpose of this study was to identify and assess selected exposures and DRC as predictors for NMSC in Puerto Rico. Methods: An incident-cases case-control study was conducted. A total of 477 NMSC cases and 365 controls were compared regarding DRC levels and other selected factors. Participants with low and high DRC levels were also compared regarding the same factors as in NMSC. DRC was measured using a host-cell reactivation assay with a luciferase reporter gene irradiated with UV light and transfected into human peripheral lymphocytes from participant's blood samples. A standardized epidemiological questionnaire was used to collect data from the participants. The crude and multiple logistic regression adjusted odds ratio was used to assess the associations between NMSC or DRC levels with selected factors after adjusting for age, gender, skin, hair, and eye color, and other potential confounders simultaneously. Results: Exposures increasing the odds for NMSC were being male, aging, light skin, presence of freckles, light hair, light eye color, increased sun exposure, severe insolations, family history of NMSC, and low DRC (p &amp;lt; 0.05). Protective factors found in the study included using sun block, taking aspirin regularly, and multivitamin supplements intake (p &amp;lt; 0.05). Factors associated with low DRC level were aging, light skin, sun exposure, severe insolations and not using sun block regularly. Discussion: The present study identified major epidemiologic factors for NMSC in Puerto Rico that are consistent with similar investigations elsewhere. Low DRC was strongly associated with NMSC (Matta et al, 2003). New unpublished data include the finding of the protective effect of multivitamin supplementation. Light skin, increased sun exposure, severe insolations and not using sun block regularly were associated with low DRC. Conclusions: The protective effect of multivitamins deserves further consideration to confirm our findings. Persons with light skin, increased sun exposure and not using sun block regularly had low DRC levels and increased odds for NMSC. DRC measurements might be used to monitor the potential preventive impact of multivitamins and sun block when used as preventive therapy. Citation Information: Cancer Epidemiol Biomarkers Prev 2010;19(10 Suppl):A90.

Dimorfismo sexual en la pigmentación de la piel, color de ojos y pelo y presencia de pecas en adolescentes chilenos en dos estratos socioeconómicos

The risk of skin cancer is correlated with skin colour. Pigmentation protects against the effects of UV radiation. To study skin, eyes and hair colour in Chilean teenagers. The constitutive skin, hair and eyes colour and the presence of freckles was studied in 716 teenagers (416 females) of a low socio economical level and in 307 teenagers (155 females) of a high socio economical level. The proportion of foreign surnames was higher in the high stratum and we only found aboriginal surnames in the low stratum. The females of the lower stratum presented lighter skin than males. This difference was not observed in the higher stratum. We did not find significant differences in the eye colour between sexes, however, adolescents from the high stratum presented lighter eye colour. Females had lighter hair colour than males in both strata, also, we found lighter hair colour in the high stratum. We did not find significant differences in the presence of freckles between strata, but, the proportion of females with freckles was higher than that of males in both strata. Our results may identify different groups of people, within the Chilean population, with different susceptibility to the effects of ultraviolet radiation.

Risk factors for cutaneous melanoma: a case-control study in Argentina.

Although cutaneous malignant melanoma (CMM) is still a relatively rare neoplasm, incidence rates are increasing in many white populations worldwide. A case-control study was performed in Argentina to estimate the risk factors for CMM. The study group comprised 101 hospital cases with histologically verified melanoma and 246 controls, frequency matched by age, sex, and hospital. Individuals were interviewed about demographic and constitutional factors and sun exposure history. The following risk factors were significant in the logistic analysis: nevi on arms (odds ratio (OR) = 6.3 for 20 or more), skin phototype (OR = 4.1 for type l or ll), holidays spent at the beach (OR = 4 for more than 6 weeks lifelong), fair skin tone (OR = 3.4), light eye color (OR = 2.8), sunburn before the age of 15 years (OR = 2.4), and participation in outdoor sports (OR = 3.2 for more than 5790 h accumulated in a lifetime). Occupational sun exposure was not related to CMM risk. Educational level, hair color, and the presence of freckles were not independent risk factors for CMM. The risk factors found for the studied population, with nearly 90% of the individuals born in Argentina and with nearly 50% with four southern European grandparents, were consistent with those described for other countries. This investigation has resulted in findings that may be of use in preparing actions to prevent CMM in Argentina; these should be directed at those individuals who present the above mentioned risk factors. These actions should include instructions to avoid excessive sun exposure, with the aim to reduce melanoma incidence.

Increase of Melanocytic Nevus Counts in Children During 5 Years of Follow-up and Analysis of Associated Factors

To investigate nevus development in childhood and to examine causative related factors such as pigment phenotype and the role of sun exposure in the development of melanocytic nevi. Nevus counts were performed in kindergarteners (n = 866) before the age of 7 years and again 5 years later (n = 377). Eligible for analysis were 357 children who were examined twice. Possible related factors were searched for by standardized interviews with parents. The mean number of nevi measuring 1 mm or more was 9 in the first examination and the number measuring 2 mm or more, 4. Five years later, the mean number of nevi measuring 1 mm or more was 40 and the number measuring 2 mm or more was 16. Children with poor sun tolerance had statistically significant more nevi (relative risk, 3.7;95% confidence interval, 1.9-7.2). The presence of freckles was a strong predictor for a high increase of melanocytic nevi (relative risk, 2.1; 95% confidence interval, 1.3-3.3). The number of days per year with intensive solar exposure was an independent prognostic factor. The relative risk for the development of melanocytic nevi was increased by a factor of 1.6 in children who had more than 21 days of intensive sun exposure per year (95% confidence interval, 1.0-2.5). The development of melanocytic nevi in childhood is strongly related to characteristics of pigmentation associated with poor sun tolerance. In addition, we found evidence for the influence of UV radiation on the number of acquired melanocytic nevi in childhood.

Cutaneous melanoma in women. II. Phenotypic characteristics and other host-related factors.

A total of 452 women with cutaneous malignant melanoma and 930 control subjects aged 25-59 years participated in a population-based case-control study carried out in the San Francisco Bay Area between 1981 and 1986. Interviews were conducted in the homes of the women. Questions were asked about various phenotypic characteristics, including eye, hair, and complexion color, presence of freckles, and number of nevi, as well as medical history, history of exposure to sunlight, ability to tan, occupation, use of cigarettes and alcohol, and demographic factors. Histologic type of melanoma was considered in the analysis: 355 (79%) women were diagnosed with superficial spreading melanoma, 61 (13%) had nodular melanoma, 13 (3%) had lentigo maligna melanoma, and 23 (5%) had other melanomas that could not be further classified. For all cutaneous melanoma subjects combined, univariate results related to host factors showed that risk increased with the presence of nevi greater than 5 mm in diameter; light eyes, hair, and complexion; freckles; a history of skin cancer other than melanoma; a history of skin cancer in relatives; and maternal and paternal Northern or Central European ancestry. After adjustment for each other and for sun exposure factors, the phenotypic and host factors associated with all types of cutaneous malignant melanoma and superficial spreading melanoma were the presence of large nevi, light hair color, light complexion, and maternal Northern or Central European ancestry. Host factors associated with nodular melanoma after adjustment for other factors were the presence of large nevi, light hair color, ever being overweight by 20 pounds (9 kg) or more, and the presence of freckles.

The recovery from ultraviolet radiation—induced erythema and melanoma risk factors: A case-control study

The proportion of subjects recovering from skin erythema induced by a single ultraviolet radiation challenge of 6 times the minimal erythema dose during a 3-week period was lower in 47 patients with stage I cutaneous melanoma than in 48 healthy control subjects with similar risk factors of increased sensitivity to ultraviolet radiation ( p = 0.045). This difference indicates that the patients with melanoma were more susceptible to prolonged ultraviolet radiation—induced skin damage than the control subjects. Prolonged erythema response was significantly associated in the melanoma group with decreased minimal erythema doses (odds ratio [OR] = 11.3) and with the presence of freckles (OR = 5.5), and was associated in the control group with light eye color (OR =5.8). Prolonged ultraviolet radiation-induced erythema is neither a unique feature of melanoma patients nor a useful marker for identifying risk groups for cutaneous melanoma.

Pigmented Streaks in Melanoma Scars

Fifty consecutive patients from our melanoma clinic were examined for the presence of transverse pigmented streaks in their melanoma surgical scars. Thirty-four (68%) patients were noted to have pigmented streaks in their melanoma scars. Ten of these 34 patients also had similar pigmented streaks in their nonmelanoma surgical scars. Long-term follow-up (mean 81.7 +/- 14.5 months, minimum 36 months) of these patients with the melanoma-scar pigmented streaks indicates that the streaks are benign. Histologic examination of a representative pigmented streak revealed basal layer hyperpigmentation without melanocytic hyperplasia. These streaks are frequently associated with the presence of freckles. However, this association may simply be coincidental.