Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey.

INTRODUCTION: Most melanoma patients under our supervision lack characteristic phenotypic features for melanoma. In contrast, history of cancers other than melanoma and early age at onset were common. This observation was in favor of hereditary melanoma. OBJECTIVES: To search for the phenotypic and genetic features that differ between sporadic and hereditary melanomas. METHODS: In order to reveal phenotypic features, detailed physical exam was conducted to all melanoma patients (N = 43) and for genetic features. CDKN2A and MC1R mutations were detected with Sanger sequencing method. Assignment to hereditary and sporadic groups was done according to the "melanoma cancer syndrome assessment tool". Patients who were diagnosed before the age of 50 were also assigned to the hereditary melanoma group. RESULTS: Thirty-one patients were assigned to the hereditary group and 12 to the sporadic group. Fair eye color was statistically significantly higher in the sporadic group (P = 0.000). CDKN2A was detected in only 1 patient in the hereditary group. MC1R mutations were found in 12 out of 13 (92.3%) in the hereditary group with a score =3 points, 13 out of 18 (72.2%) in the early age at onset group and 5 out of 12 (41.7%) in the sporadic group (P = 0.024). CONCLUSIONS: Incidence of CDKN2A mutations in our hereditary group is in accordance with the reported incidences from Mediterranean countries. The difference between the hereditary and sporadic groups in terms of MC1R mutations supports the idea that MC1R genetic testing might help to determine patients with higher risk for hereditary melanoma.

The Effect of Covid-19 on the Hair Diseases Observed in Health Care Providers: Analysis of 513 Participants.

INTRODUCTION: The Covid-19 pandemic has been shown to have major acute and chronic impacts on the skin. Various studies reported that there has been an increase in the number of patients referred to outpatient dermatology clinics with the complaint of variable hair diseases during the era of Covid-19. Hair seems to be substantially affected by both the infection itself and anxiety/stress provoked by the pandemic. Therefore, understanding the impact of Covid-19 on the clinical course of variable hair diseases has become a major concern in dermatology practice. OBJECTIVES: To examine the frequency and types of various hair diseases, both new-onset and ingravescent, observed in healthcare providers. METHODS: A web-based questionnaire related to the hair diseases seen in healthcare providers both prior to the Covid-19 pandemic and after the start of the pandemic was created. The type of both new-onset and pre-existing hair diseases and ongoing hair diseases observed during Covid-19 were investigated. RESULTS: A total number of 513 participants were included in the study. One hundred seventy cases were diagnosed with Covid-19. During the Covid-19 pandemic, 228 reported having at least one hair disease; the most common one being telogen effluvium, followed by hair greying and seborrheic dermatitis. There was a statistically significant relationship between the presence of a new-onset hair disease during the pandemic and being diagnosed with Covid-19 (p=0.004). CONCLUSION: Our study shows that Covid-19 infection has a significant impact on the emergence of new-onset hair diseases.

The dermoscopic characteristics of melasma in relation to different skin phototypes, distribution patterns and wood lamp findings: a cross-sectional study of 236 melasma lesions.

Melasma is an acquired, pigmentary disorder characterized by the appearance of brown to bluish-gray patches with well-demarcated or ill-defined borders, most commonly on the face. This challenging hyperpigmentation disorder is generally observed in women; sun exposure, pregnancy, oral contraceptive use, genetic influences and chemical agents are some etiopathogenetic factors. Even though readily diagnosed by clinical examination; dermoscopy, Wood lamp findings and histopathology may also help the clinicians to confirm the diagnosis and to disclose the features of the melasma such as melanin depth and melasma type. In our study, we aimed to investigate the dermoscopic properties of facial melasma in accordance with different skin phototypes, age, distribution patterns, presence of other facial dermatoses, etiological factors and wood lamb findings. In the present cross-sectional study, patients clinically diagnosed with facial melasma in a secondary care hospital were included. Demographical data, personal history, distribution patterns of the melasma, dermoscopic features, Wood lamp examination findings, the presence of any other facial dermatosis, possible underlying risk factors and skin phototypes were determined. One hundred fifty nine patients with a total number of 236 melasmas with variable distribution patterns were included. The mean age was 37.91 years, whereas the mean age at the onset of the melasma was 32.43 years. One hundred thirty three participants were females, whereas 26 were males. The most prevalent risk factors of melasma were exposure to UV light (62.2%), pregnancy (50.6%) and genetic predisposition (43.6%). The most common melasma localization was cheek (43.6%) followed by T zone (33.1%). The most common dermoscopic findings were brown reticular pseudonetwork (73.3%), increased vascularity and telangiectasia (51.7%) and brown clods (33.1%). Brown reticular pseudonetwork was present at a higher rate in patients with skin phototype V compared to the ones with skin phototype II (p = 0.033). Our study shows that dermoscopic findings of melasma may differ across different skin phototypes, melasma localizations, possible associated risk factors and age.

Microalbuminuria, von Willebrand factor and fibrinogen levels as markers of the severity in COPD exacerbation.

In COPD, the systemic effects of the disease reflect the structural and/or biochemical alterations occurring in the structures or organs other than the lungs in relation to the characteristics of the primary disease. The disorders of endothelial structures due to COPD may lead vascular pathologies, such as ischemic heart disease, stroke, to occur more commonly in those with COPD. On consideration of the fact that the vascular endothelium is a major site in which the systemic effect of the inflammation occurs, should von Willebrand Factor, a clotting factor of endothelium origin, and the plasma level of fibrinogen vary with the severity of the disease in COPD, the variability of arterial blood gas values, and the stability or exacerbation of the disease? Considering the fact that microalbuminuria is an indirect manifestation of the renal endothelial permeability and/or renal perfusion; should there be an association between microalbuminuria and the severity of COPD? Therefore, in order to assess the effect of the systemic inflammation in COPD on the vascular endothelium, we compared the levels of the plasma vWF, fibrinogen, 24-h urine microalbuminuria of those with stable COPD (33 patients) and exacerbation of COPD (26 patients) with those of the controls (16 healthy subjects). The mean age was 63.42 -/+ 10.29, 68.00 -/+ 9.77 and 59.63 -/+ 14.10 years in SCOPD, COPDAE, and CG, respectively. The level of microalbuminuria was found to increase significantly in COPDAE group, compared to that of the controls (P = 0.004). When we investigated the relation between smoking burden and microalbuminuria, vWF, fibrinogen levels, the amount of consumption and positive relationship were found significant. (r = 0.336, P = 0.003 between smoking pack-years and vWF, r = 0.403, P = 0.001 between smoking pack-years and fibrinogen, and r = 0.262, P = 0.02 between smoking pack-years and microalbuminuria). The levels of vWF and fibrinogen are AECOPD > SCOPD > CG, with the highest being in AECOPD, and the difference among the groups was statistically significant. The relationship between the level of hypoxemia and microalbuminuria, fibrinogen and vWF was found to be significant (r = -0.360, P = 0.005 between oxygen saturation and microalbuminuria, r = -0.359, P = 0.005 between the level of PaO(2) and fibrinogen, and r = -0.336, P = 0.009 between PaO(2) and vWF). In conclusion, the levels of plasma vWF, fibrinogen, and microalbuminuria may be helpful in grading the severity of COPD exacerbation. The related increase in these markers may represent a possible pathophysiological mechanism behind the increased vascular morbidity of patients with COPD and detecting indirectly the endothelial dysfunction as a manifestation of systemic outcomes due to COPD and in detecting earlier the cases in which the risk for developing the associated complications are higher. We suggest that further studies are necessary to investigate the impact of antithrombotic treatment on microalbuminuria, plasma vWF and fibrinogen as markers of endothelial dysfunction coexisting COPD exacerbation.