The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

Background/aim: Interferon-induced helicase (IFIH1) is a gene locus that has been recently defined as a candidate for susceptibility to generalized vitiligo (GV). The objectives of this study were to assess the association of IFIH1 gene, rs2111485, and rs1990760 single-nucleotide polymorphisms (SNP) with susceptibility to GV and the autoimmune diseases accompanying GV. Materials and methods: We prospectively studied GV patients and frequency-matched healthy controls by age and sex. The genotypes of the participants were determined for rs1990760 and rs2111485 SNPs of IFIH1. Dominant, recessive, and additive models were evaluated for each SNP adjusted for age and sex. Results: The patients and their controls were observed to be in the Hardy­Weinberg equilibrium for SNP1 (2q24.2, rs1990760, IFIH1, T/C) and SNP2 (2q24.2, rs2111485, IFIH1, G/A), respectively (all P > 0.7). For SNP1, every T allel addition was significantly associated with 1.53 times protectiveness in terms of vitiligo risk (P = 0.033). As for SNP2, every G allel addition was associated with 1.42 times protectiveness, close to statistical significance (P = 0.100). Conclusions: We detected that for SNP1, each T allel and for SNP2, each G allel are protective in terms of vitiligo development. Hereby, we confirmed that IFIH1 gene locus has a role in GV susceptibility.

Dermoscopy as a first step in the diagnosis of onychomycosis.

INTRODUCTION: Over the years, clinical studies have provided new knowledge about the dermoscopic features of the diseases of cutaneous annexes. It seems that dermoscopy has opened a new morphological dimension in the diagnosis and management of hair disorders and onychopathies. AIM: To identify and describe dermoscopic features of onychomycosis. MATERIAL AND METHODS: A total of 81 consecutive patients with onychomycosis (55 men and 26 women) were prospectively enrolled in the present study. For each patient, all fingernails and toenails were evaluated in clinical and dermoscopic examinations. Mycological tests were performed by potassium hydroxide (KOH) preparation. Mann-Whitney U and χ2 tests were used for the statistical analysis, with a significance threshold of p < 0.05. RESULTS: Dermoscopic examination of the patients' nails revealed the following: jagged proximal edge with spikes of the onycholytic area (51.9%), longitudinal streaks and patches (44.4%), subungual hyperkeratosis (27.2%), brown-black pigmentation (9.9%) and leukonychia (1.2%). Jagged proximal edge, subungual hyperkeratosis and leukonychia were positively associated with the onychomycosis type. CONCLUSIONS: Onychomycosis accounts for up to 50% of all consultations for onychopathies. Fast and effective diagnostic approaches are needed in everyday clinical practice. Dermoscopy can provide immediate and accurate information in the diagnosis of onychomycosis. We suggest that dermoscopy should be taken as a first step toward the diagnosis of onychomycosis.

Comparison of pigmentary side effects of taxanes and anthracyclines: an onychoscopic evaluation.

BACKGROUND: Taxanes and anthracyclines are considered as fundamental drugs for the treatment of a broad range of cancers. They have several side effects, which may limit their usage. Drug-induced nail pigmentation (DHNP) has been reported as one of the most striking dermatological side effect of both taxanes and doxorubicin. OBJECTIVE: This study aimed to evaluate and compare pigmentary side effects of taxanes and doxorubicin with the help of onychoscopy. METHODS: Forty-one consecutive patients (30 women, 11 men) with a diagnosis of cancer (16 gastric cancer, 25 breast cancer) were prospectively enrolled in a period of six months. Patients were categorized according to the chemotherapy regimens they had been administered: docetaxel received group [docetaxel (60 mg/m2, day 1), cisplatin (60 mg/m2, day 1) and fluorouracil (500 mg/m2, days 1-5) every 3 weeks], paclitaxel received group [paclitaxel (80-175 mg/m2) every 21 days with or without trastuzumab/zoledronic acid] and doxorubicin received group [doxorubicin 50-60 mg/m2 and cyclophosphamide 600-750 mg/m2 every 21 days]. All the patients were asked whether they had diabetes mellitus (DM) and peripheral neuropathy. At the 16 weeks of chemotherapy, for each patient, all fingernails and toenails were evaluated in clinical and dermoscopic examinations for nail pigmentation. Dermoscopic examination was performed using a videodermatoscope. Descriptive statistics were computed for means, standard deviations, and frequencies. Chi-square test or Fisher's exact tests were used for the statistical analysis, with a significance threshold of p < 0.05. RESULTS: 34.1% of the patients (14/41) demonstrated clinical signs of nail pigmentation. Nail pigmentation was observed in 4 of 13 patients (30.8%), who had received doxorubicin; 10 of 28 patients (35.7%), who had received taxanes (docetaxel and paclitaxel). There was no statistically significant relationship between the nail pigmentation and the type of the chemotherapeutic regimen administered (Fisher's exact test, p = 1.000). In addition, no statistically significant results were observed between nail pigmentation and DM (Fisher's exact test, p = 0.393), and nail pigmentation and peripheral neuropathy (Fisher's exact test, p = 1.000). CONCLUSIONS: DHNP may cause considerable distress to patients. Dermoscopy is a noninvasive imaging method that increases diagnostic accuracy of both pigmented and nonpigmented lesions. Typical dermoscopic features of DHNP consist of a homogeneous brownish-gray coloration of the background with thin, longitudinal, gray lines, which allow the examiner to clearly make the correct diagnosis. Further studies are needed to assess both clinical and dermoscopical findings of DHNP.

Acyclovir-induced bullous reaction in a patient with metastatic breast cancer.

Acyclovir is a synthetic guanosine analog, which is a potent and highly selective inhibitor of the DNA polymerases of several herpes viruses. Acyclovir is known as a relatively safe drug with few significant adverse effects, of which nephrotoxicity seems to be the most dreaded one. On the other hand, inflammation and phlebitis at the injection site have been reported to be the most frequent side effects of intravenous acyclovir administration. Although exceptionally rare, there have been case reports of bullous eruption occurring after intravenous acyclovir therapy, a similar of which we have also observed. Here, we present a case of localized bullous eruption and phlebitis associated with intravenous acyclovir treatment in a patient with metastatic breast cancer. Our case distinctively demonstrated two consequential juxtaposing vesiculobullous lesions and phlebitis manifesting as erythema along the course of a vein after intravenous acyclovir injection. We emphasize this hardly known side effect and importance of early recognition and appropriate management of unpredictable side effects of widely used medications.

A study of dermoscopic features of nail psoriasis.

INTRODUCTION: Dermoscopy is a non-invasive imaging method that enables the evaluation of pigmented and non-pigmented skin lesions. More recently, dermoscopy has been recognized as an effective tool in the diagnosis of nail diseases. AIM: To evaluate the dermoscopic features of nail psoriasis and to assess the relationship between these features and disease severity. MATERIAL AND METHODS: A total of 67 patients with clinically evident nail psoriasis (14 women, 53 men) were prospectively enrolled. Following a thorough clinical examination, patients were graded according to the Nail Psoriasis Severity Index and physician's global assessment score. A dermoscopic examination of all fingernails and toenails was performed using a videodermatoscope. Mann-Whitney U and χ2 tests were used for statistical analysis, with a significance threshold of p < 0.05. RESULTS: The most frequently observed dermoscopic features were splinter haemorrhage (73.1%), pitting (58.2%), distal onycholysis (55.2%), dilated hyponychial capillaries (35.8%) and the pseudo-fiber sign (34.3%). The pseudo-fiber sign, dilated hyponychial capillaries, nail plate thickening and crumbling, subungual hyperkeratosis, transverse grooves, trachyonychia, pitting and salmon patches were positively associated with disease severity. CONCLUSIONS: The pseudo-fiber sign described in this study appears to be a novel dermoscopic feature of nail psoriasis. We have demonstrated positive associations between a number of dermoscopic manifestations and disease severity. Further studies are required to support the present findings.

An evaluation of thiol/disulphide homeostasis in patients with psoriasis.

INTRODUCTION: The role of oxidative stress in the pathogenesis of psoriasis has been investigated in previous studies with conflicting results. On the other hand, well-established treatments currently used in psoriasis exert their effects via a boost of oxidative stress. Recently, a strong positive association between psoriasis, metabolic syndrome and dyslipidemia has also been described showing the complex nature of the disease. AIM: To examine thiol/disulphide homeostasis, a newly developed homeostasis assay in psoriasis and evaluate the possible association between thiol/disulphide homeostasis and dyslipidemia in psoriasis. MATERIAL AND METHODS: The study population included 92 psoriasis patients and 71 healthy subjects. Serum native thiol, total thiol and disulphide levels were investigated in patients with psoriasis and in healthy subjects. In addition, lipid profile (serum total cholesterol, triglyceride, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol) levels were investigated in both groups. The association between thiol-disulphide parameters and dyslipidemia was also evaluated. RESULTS: Serum total cholesterol and triglyceride levels were found to be higher in patients with psoriasis than in the healthy group. Lower plasma disulphide and higher native thiol levels were found in patients with psoriasis indicating an antioxidant status. CONCLUSIONS: To our knowledge, this is the first study showing the shift of dynamic thiol/disulphide homeostasis towards the thiol form in psoriasis which indicate higher antioxidant status.

An unusual side effect of isotretinoin: retinoid dermatitis affecting external urethral meatus.

Isotretinoin (Iso) is the most effective drug against severe nodulocystic acne. As a synthetic oral retinoid, Iso exerts its actions by modulating cell growth and differentiation. Targeting all the pathophysiologic processes in acne development, Iso has been considered to be an unique drug, however it has several side effects. While chelitis, xerosis, ocular sicca, arthralgia, myalgia, headache, hyperlipidemia are the most common side effects, teratogenicity and depressive symptoms are the most concerning ones. In addition, Iso has unusual side effects which have been described for the first time in the literature. Here, we report a remarkable side effect of Iso in a 23-years-old male patient with retinoid dermatitis affecting the external uretral meatus. To our knowledge, only few cases of retinoid dermatitis in the urethral mucosa due to Iso have been reported in the literature so far.

A case of generalized allergic contact dermatitis after laser tattoo removal.

Tattoos are popular body decorations mainly done for cosmetic purposes. Regarded as a form of self-expression, tattoos reflect the character of the person wearing it. However, as tatoos are persistent visual markings on the body, frequently misperceived by the others causing tattooed to seek removal. Today most of the tattoos can be successfully treated with laser ablation. Here we present a case of generalized allergic contact dermatitis after laser tattoo removal which is a rare adverse reaction of laser tattoo removal.

A case of Graham-Little-Piccardi-Lasseur syndrome.

Graham-Little-Piccardi-Lasseur Syndrome (GLPLS) is a variant of lichen planopilaris, which is characterized by progressive cicatricial alopecia of scalp, non-cicatricial alopecia of axillae and pubic regions, and keratosis pilaris-like follicular papules over trunk and extremities. GLPLS is a disease of unknown etiology. However, recent reports support a central role for a T-cell-mediated immune response in the pathogenesis of GLPLS. Besides, although GLPLS is believed to occur sporadically, a genetic predisposition also has been implicated in the pathogenesis. On the other hand, GLPLS typically affects middle-aged women, particularly of the postmenopausal age group. A diagnosis of GLPLS is generally apparent with the presence of characteristic findings in a postmenopausal woman. Herein, we report a case of GLPLS in a 75-year-old woman with the typical triad of alopecia of the scalp, non-cicatricial alopecia of axillae and pubis, and a follicular keratotic eruption on the trunk.

Dermoscopy: the ultimate tool for diagnosis of nail psoriasis? A review of the diagnostic utility of dermoscopy in nail psoriasis.

Dermoscopy is a highly practical noninvasive diagnostic tool. Several dermoscopic algorithms have been proposed in the evaluation of skin diseases, which allow clinicians not only to identify and make differential diagnosis, but also to determine the treatment choices in challenging clinical circumstances. Over the years, we have witnessed a rapid increase in the utilization of dermoscopy in the assessment of nail disorders. However, to assess the diagnostic utility of dermoscopy in inflammatory nail diseases, current evidence is insufficient. Nail psoriasis is a significant challenge because of the difficulties in its diagnosis. Detection of nail involvement is of utmost importance in psoriasis because it is highly associated with arthritis, which is an indication for systemic treatment. Dermoscopy holds promise as a potential tool in the diagnosis of nail psoriasis, capable of providing characteristic clinical findings without any delay and discomfort. This review summarizes current evidence regarding the unique dermoscopic features of nail psoriasis. It addresses whether dermoscopy may serve as the gold-standard diagnostic tool, excluding the necessity of histopathological examination for the ultimate diagnosis of nail psoriasis.

Dermoscopic Features of Nail Psoriasis: Revisited.

Introduction: Nail psoriasis poses a diagnostic challenge in a context of clinical findings that are not evident. We aimed at exploring dermoscopic findings of nail psoriasis and assessing the relationship between these features with disease severity and the risk of arthritis. Methods: We enrolled 35 patients (26 men, 9 women) with severe nail psoriasis (Nail Psoriasis Severity Index [NAPSI] score of more than 50). A complete clinical evaluation, including musculoskeletal assessment and videodermoscopic examination of all nails, was carried out for each patient. Results: Splinter haemorrhage was the most common finding (94.3%), followed by distal onycholysis (88.6%) and pitting (74.3%). The presence of subungual hyperkeratosis (SUH) and the absence of mottled lunula were associated with disease severity (p < 0.05). Both SUH and nail plate crumbling (NPC) were observed more in patients with arthritis. The presence of a combination of SUH and NPC was associated to a 15-fold increase in the risk of arthritis (%95 confidence intervals: 1.55-145.2, p < 0.05). Discussion/Conclusion: This study presents preliminary evidence for the use of dermoscopy as a first step in the diagnosis of nail psoriasis. Dermoscopy is an indispensable tool in the primary evaluation of patients with nail psoriasis, which provides predictive information about the course of the disease.

Telogen effluvium in daily practice: Patient characteristics, laboratory parameters, and treatment modalities of 3028 patients with telogen effluvium.

BACKGROUND: Telogen effluvium (TE) is a common form of non-scarring alopecia, characterized by excessive shedding of telogen club hairs. OBJECTIVES: The aim of the present study was to investigate patient characteristics, laboratory parameters, and treatment strategies in TE. METHODS: Electronic records of 3028 patients were retrospectively analyzed. Demographic and clinical data, as well as serum parameters screening for iron, vitamin B12, vitamin D, folate and zinc deficiencies, thyroid function, and ANA titers, were evaluated. RESULTS: In the study group, the most frequently performed test type was serum ferritin level (82.3%), followed by complete blood count (81%), both of which revealed that 6.2% of the patients had iron deficiency anemia. 4.6% of the patients had thyroid dysfunction. In screened patients, vitamin and mineral deficiencies were as follows: vitamin D (72.2%), vitamin B12 (30.7%), folate (4.4%), and zinc (2.1%). Women were more likely to be prescribed vitamin D replacement therapy. Iron replacement was the most frequently ordered treatment, comprising 37.5% of total prescriptions. CONCLUSION: To the best of our knowledge, this is the most comprehensive retrospective study having the largest number of patients with TE. Our results will not only help to augment knowledge about TE, but also provide a diagnostic algorithm for the laboratory and clinical workup of patients with TE.

Complementary and alternative treatment methods practiced by parents in pediatric cases diagnosed with atopic dermatitis.

INTRODUCTION: Atopic dermatitis (AD) is a chronic, recurrent, and inflammatory skin disease experienced mostly in childhood. Chronicity of the disease, relapses, constant need of regular skin care causes seeking for alternative treatments. AIM: The aim of this study is to evaluate the complementary and alternative treatments (CAT) used by parents' caregivers in pediatric patients diagnosed with AD, and the association between CAT use and patient characteristics. MATERIALS AND METHODS: A questionnaire questioning the sociocultural and demographic characteristics of the family, the clinical findings of the patients, their treatments and CAT applications was recorded. RESULTS: Eighty-three patients were included in the study. 68.7% of the patients used at least one type of CAT. Vitamins and oils were the most commonly used CAT (48.8% and 47%, respectively) and 73.3% of the patients using CAT continued normal AD treatment while using CAT. The biggest factor affecting CAT choice was the advice of the immediate circle (75%), and 40.6% of the patients stated that they benefited from the complementary therapy. CONCLUSIONS: CAT are widely used in AD. Physicians should know the socio-cultural structure of the region they are in, the CAT used and their side effects, and inform the families.

Panitumumab-Induced Paronychia: A Case Report and a Brief Review of the Literature.

Panitumumab is a recombinant, fully humanized IgG2 monoclonal antibody targeting the epidermal growth factor receptor (EGFR). Panitumumab is indicated for patients with metastatic colorectal cancer with progressive refractory disease. Targeted therapies are well known to be well tolerated; however, they may induce toxicities that are distinct from those of classical chemotherapeutic agents. For instance, EGFR inhibitors (EGFRIs) are associated with some specific dermatological adverse effects, one of which is nail toxicity. Since panitumumab is fully humanized, unlike most of the other EGFRIs, it has been reported to have reduced incidence of adverse reactions. Nail-related adverse effects are frequently observed with EGFRIs. A literature search has yielded a list of reviews describing panitumumab-induced nail toxicity. However, as far as we know, there is no case report detailing this adverse effect of panitumumab. Here, we present a case of panitumumab-induced paronychia in a 60-year-old woman with metastatic colon cancer. With this case report, we would like to review the literature and discuss the possible underlying mechanisms of this condition.

Paronychia and Periungual Granulation as a Novel Side Effect of Ibrutinib: A Case Report.

Ibrutinib is an oral covalent inhibitor of the Bruton's tyrosine kinase pathway and is approved for the treatment of B-cell malignancies including chronic lymphocytic leukaemia, mantle cell lymphoma, and Waldenström's macroglobulinaemia. It is generally a drug of choice for high-risk patients with indolent lymphomas. The safety profile of ibrutinib appears to be tolerable, with well-known side effects such as infections and haematologic complications. Additionally, dermatological adverse reactions with ibrutinib therapy have been reported to encompass maculopapular rash and hair/nail abnormalities. Here, we present a case of ibrutinib-induced paronychia and periungual granulation in a 40-year-old woman. To the best of our knowledge, this is the third description of ibrutinib-induced paronychia and periungual granulation.

Myths, Perceptions and Practices in Acne: A Study on Adolescents and Young Adults.

BACKGROUND AND AIM: Acne vulgaris is a worldwide disease, affecting 85% of adolescents and young adults. Psychological burden of the disease can be profound and may even exceed its physical impact. Adolescents often seek information from a variety of sources, which contributes misinformation and misconceptions. The aim of the present study was to investigate perspectives and attitudes of adolescents and young adults towards acne. MATERIAL AND METHODS: A total of 318 consecutive patients with acne vulgaris (236 female, 82 male) were prospectively enrolled over a period of 4 months. Following a thorough dermatological examination, patients were graded according to Investigator's Global Assessment scale for disease severity. Patients were asked to respond a 28-item self-administered questionnaire, which consisted of questions on beliefs, perceptions and practices of the patients towards acne. RESULTS: 63.5% of the patients considered acne as a 'must be treated disease' and 96.5% believed that treatment should be given by a dermatologist. 84.6% of the patients presumed that dietary changes may reduce or prevent acne lesions, while 95% regarded some dietary factors as aggravating. Female patients more frequently assumed acne as a hormonal disease. Patients with university education considered high water intake and increased fruit and vegetable consumption as ameliorating factors for acne. CONCLUSION: The overall knowledge about acne was found to be poor. These data confirm the need for public awareness and education on acne.