Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5. Although the typical skin finding of CDS syndrome is reported as non-bullous congenital ichthyosiform erythroderma, CDS should also be in the differential diagnosis in patients with EKV-like lesions.

The nailfold dermoscopy findings of patients with atypical haemolytic uremic syndrome.

INTRODUCTION: Hemolytic uremic syndrome (HUS) is a severe disease characterized by microangiopathic anemia, thrombocytopenia, and acute renal failure. OBJECTIVES: Atypical HUS (aHUS) that results due to genetic disorders of the alternative complement pathway results in inflammation, endothelial damage, and kidney injury. Therefore, simple and non-invasive tests are needed to evaluate the activity of the disease by assessing the microvascular structure in aHUS. METHODS: A dermoscope (×10) is an inexpensive and easily portable device used to visualize nailfold capillaries and has high clinical performance and interobserver reliability. In this study, the nailfold capillaries of patients with aHUS who were in remission under eculizumab treatment were examined, and the findings were compared to those of a healthy control group to evaluate disease characteristics. RESULTS: All children with aHUS had decreased capillary densities even if they were in remission. This may be indicative of ongoing inflammation and microvascular damage in aHUS. CONCLUSION: A dermoscopy can be used as a screening tool for disease activity in patients with aHUS.

Internalized Stigma in Hidradenitis Suppurativa: A Multicenter Cross-Sectional Study.

BACKGROUND: Hidradenitis suppurativa (HS) causes significant physical, social, and psychological burdens. Internalized stigma, acceptance of negative attitudes and stereotypes of society regarding a person's illness, has not been studied previously in HS. OBJECTIVES: The objective of this study was to investigate the internalized stigma state of HS patients and identify the factors affecting it. METHODS: This multicenter, prospective, cross-sectional study included 731 patients. Internalized Stigma Scale (ISS), Hurley staging, Physician Global Assessment, Dermatology Life Quality Index (DLQI), Skindex-16, Beck Depression Inventory-II (BDI-II), and Visual Analog Scale (VAS)-pain score were used in the study. RESULTS: The mean ISS value (57.50 ± 16.90) was comparable to the mean ISS values of studies in visible dermatological and various psychiatric diseases. A significant correlation was found between the mean values of ISS and all disease activity scores, quality of life measures, BDI-II, and VAS-pain scores. Obesity, family history, low education and income level, vulva/scrotum involvement and being actively treated are significant and independent predictive factors for high internalized stigma in multivariate analysis. CONCLUSIONS: HS patients internalize society's negative judgements, which may create a profound negative effect on access to health care. Therefore, in addition to suppressing disease activity, addressing internalized stigma is fundamental for improving health care quality.

Evaluation of the laboratory parameters in hidradenitis suppurativa: Can we use new inflammatory biomarkers?

Hidradenitis suppurativa (HS) is a chronic, recurrent, and debilitating skin disease. Recent studies showed that inflammatory biomarkers, such as neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), Lymphocyte/HDL ratio (LHR), Neutrophil/HDL ratio (NHR), and Monocyte/HDL ratio (MHR) are an indicator of inflammatory diseases and may be associated with disease severity and disease activity. To investigate NLR, PLR, LHR, NHR, and MHR in HS patients. In addition, to compare erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), complete blood count, leukocyte profile, and biochemical parameters between the control and the patient group. Clinical and biochemical data of patients and healthy subjects were collected from medical records, retrospectively. In total, 166 patients with HS and 124 control subjects were included. We found no significant difference in NLR (P = .207) and PLR (P = .257). LHR (P < .001), NHR (P < .001), and MHR (P < .001) were significantly higher in the patient group. No positive correlation was found between any of these markers and disease severity according to Hurley staging system. However, MCV (Mean corpuscular volume), RDW (Red cell distribution width), and CRP showed a significant positive correlation with disease severity. Among these markers, only MHR was positively correlated with disease duration. Our study shows that CRP still maintains its value for HS patients compared to new inflammation markers. Unlike the studies in other inflammatory diseases, no significant relationship was found with most of these inflammatory parameters. MHR may be more useful in patients with HS as an indicator of inflammation compared to other parameters.

Evaluation of the effect of surgical treatment on quality of life with the Dermatology Life Quality Index in patients with facial nonmelanoma skin cancer.

Skin cancers are the most common type of cancer. Nonmelanoma skin cancers (NMSCs) are more common than melanoma. Although the mortality rate is low, cancer word can be frightening for patients. Surgery is the main treatment. As skin cancers are most commonly located on the face, undesirable cosmetic results can occur as a result of treatments or due to primary disease. Therefore, the quality of life of patients could be affected. To determine the effect of surgical treatment on quality of life of the patients with facial NMSC using the Dermatology Life Quality Index (DLQI) at baseline and 3 months after surgery. We aimed to see if there was any improvement in quality of life scores after surgery, and to identify factors affecting quality of life. A total of 255 patients; 174 basal cell carcinoma (BCC) (68.2%) and 81 squamous cell carcinoma (SCC) (31.8%) were included in our study. All participants completed DLQI at baseline and 3 months after surgery. The mean total DLQI scores were 6.37 ± 6.28 in patients with BCC, and 6.35 ± 6.16 in patients with SCC. The mean total DLQI scores were 3.96 ± 5.14 in patients with BCC (P < .001), and 4.49 ± 5.24 in patients with SCC (P < .001) 3 months after surgery. In patients with primary skin cancer, all subscale scores and total DLQI scores were worse than the recurrent skin cancer group in both BCC and SCC at baseline. According to the treatment modalities, total DLQI scores and all subscales were worse in the graft group in BCC and SCC patients at baseline. Interestingly, the sex and the type of skin cancer did not affect quality of life, but tumor localization ([auricula OR: 6.45 [95% CI: 1.28-37.47] and eyelid OR:0.20 [95% CI: 0.04-0.96]) treatment procedure ([flap procedure OR: 7.90 [95% CI: 2.64-23.62] and graft procedure OR: 5.47 [95% CI: 1.60-18.71]) and, primary tumor OR:3.86 (95% CI: 1.01-14.78) were significant. The quality of life of skin cancer patients was affected by tumor localization, treatment procedure, primary, or recurrent tumor. The quality of life showed a significant improvement in patients with facial NMSC after surgical treatment. However, the type of NMSC seems to have no effect on the quality of life.

The reliability of tuberculin skin test in the diagnosis of latent tuberculosis infection in psoriasis patients: A case-control study.

Tuberculin skin test (TST), which is used in the diagnosis of latent tuberculosis infection, may cause Koebner's phenomenon and false-positive results in psoriasis patients. The purpose of this study is to compare TST with QuantiFERON-TB Gold Plus (QFT-plus) test in psoriasis patients and to determine the effects of psoriasis on TST results. Ninety-two psoriasis patients and 30 control subjects were included in the study. QFT-plus test, TST, and prick test to distinguish the increase of induration because of the skin trauma were performed on both groups. The demographics, risk factors for latent tuberculosis infection, BCG vaccination history, Koebner's history, psoriasis severity, and treatment history of the patients were recorded. The effects of these variables on test results were investigated by comparing those with control group. The criteria of National Tuberculosis Diagnosis and Treatment Guidelines were used in the evaluation of test results, and threshold value of positivity for TST was taken as 10 mm in BCG-vaccinated patients who are planned to start biological treatment. Prick test results were negative in the control group. There was no significant relation between the results of prick test and TST induration diameters in the patient group. Although TST positivity was significantly higher in patients (62%) compared with control group (33%), QFT-plus test results were not statistically different between two groups. Agreement between two tests was determined to be low in patient group with 48% (K = 0.1), and it was determined to be moderate with 77% in control group (K = 0.4). QFT-plus test was found to be negative in 46 of 57 TST-positive patients (80.7%) in patient group. It was determined in both groups that vaccination did not have any effect on test results. When threshold value was lowered to 5 mm in patient group without considering BCG reaction, the number of TST-positive patients increased from 57 to 65. Mean TST induration diameter was 10 mm and 14 mm in cases with mild and moderate to severe clinical manifestation, respectively (P = .04). However, no effect of disease period and treatment was determined on both test results. TST positivity was higher in psoriasis patients compared with control group. It was considered due to the increased reaction of the skin to mycobacterial antigens rather than the Koebner's response. Although TST results were not affected by BCG, it was concluded that a 10-mm threshold value of positivity was a suitable approach in order to reduce the number of patients receiving unnecessary preventive treatment in patients who are considered to initiate biologic agents. Furthermore, it was also concluded that QFT-plus test may be preferred in psoriasis patients since it is applied in vitro and its specificity is higher and not affected by disease severity.

Clinicopathological characteristics and mutation profile of BRAF and NRAS mutation in cutaneous melanomas in the Western Turkish population

Background/aim: Malignant melanoma is the most common cause of death due to skin cancers. The most common mutations in RAFRAS pathway from tumor oncogenes are BRAF and NRAS. In this study, we analyzed the frequency of BRAF and NRAS gene mutations and investigated their association with clinicopathological features of melanomas in the Turkish population. Materials and methods: 65 primary cutaneous melanoma were included in the study. The mutations were evaluated with real-time PCRbased PCR-array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. Results: 52.3% of the patients were female and 47.7% were male. The mean age of the patients with a mutation was lower than those without mutation. 16 patients had BRAF mutation. 12 patients had NRAS mutation. NRAS mutation was statistically more common in men (P = 0.036). The number of mitoses increased with the increase of the tumor thickness (P = 0.003). There was more mitosis in the presence of ulceration (P = 0.05). A total of 41.7% of NRAS mutations had adjuvant chemotherapy. Conclusion: We found lower mutation rate when compared to regional studies. NRAS mutation was common in men. This is the first study from our region evaluating the prognostic value of clinical stage and necessity of adjuvant treatment with the presence of BRAF and NRAS mutations.

Analysis of factors influencing target PASI responses and side effects of methotrexate monotherapy in plaque psoriasis: a multicenter study of 1521 patients.

Methotrexate (MTX) is commonly used as first-line systemic treatment agent in psoriasis. We aimed to evaluate the clinical characteristics and treatment responses of patients with psoriasis undergoing MTX monotherapy. Data from adult patients with plaque psoriasis who received MTX monotherapy for at least 3 months between April 2012 and April 2022 were retrospectively evaluated in 19 tertiary care centers. Our study included 722 female and 799 male patients, a total of 1521 participants. The average age of the patients was 44.3 ± 15.5 years. Mode of treatment was oral in 20.4% of patients while in 79.4% it was subcutaneous. The median treatment duration was 8 months (IQR = 5-15). The median weekly dose was 15 mg (IQR = 11-15). 1448 (95.2%) patients were taking folic acid supplementation. At week 12, 16.3% of the patients achieved PASI (Psoriasis Area and Severity Index) 90 response while at week 24, 37.3% achieved it. Logistic regression analysis for week 12 identified the following independent factors affecting PASI 90 achievement positively: median weekly MTX dose ≤ 15 mg (P = 0.011), subcutaneous administration (P = 0.005), no prior systemic treatment (< 0.001) and folic acid use (0.021). In logistic regression analysis for week 24; median weekly MTX dose ≤ 15 mg (P = 0.001), baseline PASI ≥ 10 (P < 0.001), no prior systemic treatment (P < 0.004), folic acid use (P = 0.001) and absence of comorbidities (P = 0.009) were determined as independent factors affecting the achievement of PASI 90. Adverse effects were observed in 38.8% of the patients, with nausea/vomiting (23.9%) and transaminase elevation (13%) being the most common. The most common reasons for interruptions (15.3%) and discontinuations (27.1%) of the treatment were patient related individual factors. The use of MTX as the first systemic treatment agent, at doses ≤ 15 mg/week and concurrent folic acid application are positive predictive factors for achieving the target PASI response both at weeks 12 and 24. In our study, which is one of the most comprehensive studies on MTX treatment in psoriasis, we observed that MTX is an effective and safe treatment option.

Hyperbaric oxygen therapy for the management of chronic wounds.

Wound healing is actually a complex, precisely coordinated interaction between inflammatory cells and mediators, establishing significant overlap between the phases of wound healing. Chronic wounds are defined as wounds that do not follow the well-defined stepwise process of physiologic healing. The true incidence and economic impact of chronic wounds are difficult to assess because of the wide range of causative diseases and available treatment options. Despite multiple simultaneous and sequential therapeutic approaches, chronic wounds are highly resistant to treatment and are often indolent or even slowly progressive. Hyperbaric oxygen therapy (HBOT) has been explored as a treatment modality for chronic wounds because of its potential to promote healing and reduce bioburden in the wound bed. Multiple potential beneficial effects for wound healing have been demonstrated in various laboratory studies and experimental animal models. In this manuscript, HBOT, its mechanism of action, adverse effects and usage in diabetic and nondiabetic chronic wounds have been reviewed.

Malignant acanthosis nigricans associated with ileocecal adenocarcinoma.

Malignant acanthosis nigricans (MAN) is a cutaneous sign of internal malignancy, usually an adenocarcinoma. With this report, we aim to present a rare case of concomitant colon cancer and acanthosis nigricans (AN). A 62-year-old woman with hyperpigmentation, velvety cutaneous thickening and verrucous excrescences involving the axillary, inframammar, and inguinal regions with a history of 10 years is presented. Hyperpigmentation and thickening existed also on the nape, umbilicus, and periorbital regions. Histopathological findings of skin lesions were consistent with AN. Computed tomography of the abdomen revealed cecal wall thickening and multiple enlarged lymph nodes in pericolic fat tissue. The tumor was resected surgically and the diagnosis of poor differentiated adenocarcinoma of the colon with lymphatic metastasis was established. Although MAN is mostly reported in the course of abdominal malignancies, this is a very rare case report of MAN associated with adenocarcinoma of the colon.

Coexistence of psoriasis and bullous pemphigoid: remission with low-dose methotrexate.

The coexistence of psoriasis vulgaris and bullous pemphigoid is rare. Here, we report a 90-year-old patient with a 20-year history of psoriasis. She developed vesicles and bullae suddenly and was diagnosed as bullous pemphigoid. Low-dose methotrexate therapy quickly cleared both psoriatic and bullous lesions.

Epidemiological characteristics of different types of adult acne in Turkey: a prospective, controlled, multicenter study.

INTRODUCTION: Acne occurring in adults over the age of 25 years is known as acne tarda or adult acne. Three types of adult acne are recognized: persistent, late-onset, and recurrent acne. Most studies do not compare the characteristics between the three variants. In addition, little is known about adult acne in males. This study describes the epidemiological factors of adult acne and investigates certain triggering factors by sex and different types of adult acne. METHODS: A multicenter, prospective, descriptive study was conducted. Patients with adult acne and an acne-free control group were compared regarding medical history, family history, smoking and drinking habits, and dietary factors. In addition, triggering and prognostic factors were investigated by sex and three different types of acne: persistent, late-onset, and recurrent acne. RESULTS: The participants included 944 (88.56%) female and 122 (11.44%) male patients with adult acne, and 709 (73.85%) female and 251 (26.15%) male control patients. The consumption of crackers, chocolate, and pasta was significantly more common in the acne group than in the control group (p = 0.017, 0.002, and 0.040, respectively). Male patients with adult acne had a significantly longer disease duration than female patients with adult acne (p = 0.024). The most common type of acne was recurrent acne, followed by persistent and late-onset acne. Among patients with persistent acne, 14.5% had polycystic ovary syndrome (PCOS), whereas 12.2% of patients with recurrent acne and 11.1% of patients with late-onset acne had PCOS. Severe acne was more common in the persistent acne type (28.13%). The cheek (59.90%) was the most common involvement area, and stress (55.23%) was the most common triggering factor regardless of sex. CONCLUSIONS: Although adult female and male patents with adult acne share similar triggering factors, the involvement areas can differ, which may indicate the additional hormonal etiology of female adult acne. Further epidemiological studies on adult acne in both sexes may illuminate the pathogenesis of the disease, thus making possible the development of new treatment strategies.

Thermotherapy in dermatology.

Heat has been used as a medicinal and healing modality throughout human history. Today, thermotherapy is being studied in the treatment of many diseases. Although the exact anti-infective mechanism of thermotherapy is yet to be solved, this historically important healing method has shown significant results in the treatments of a variety of dermatological infectious diseases ranging from simple acne to bacterial, parasitic and viral infections, in modern medicine. Induction of cellular apoptosis in medium doses and necrosis in high doses has made thermotherapy an important modality in the treatment of malignant tumors. Especially in dermatology, significant results have been achieved in the treatment of Bowen's disease, melanoma and simple warts. Thermotherapy, which today has also shown advancements in cosmetology, can be delivered by liquid nitrogen in the form of hypothermia and a variety of ways ranging from hot water pads to ultrasound and even to lasers, in the form of hyperthermia. In this article, the place of this historically important treatment method in modern medicine, especially in dermatology, has been reviewed by an extensive search of the literature.

[The evaluation of tumor histopathology, location, characteristic, size and thickness of nonmelanoma skin cancers of the head and neck]. / Bas ve boyun melanom disi deri kanserlerinde tümör histopatolojisi, konumu, karakteristigi, boyut ve kalinliginin incelenmesi.

OBJECTIVES: This study aims to investigate the characteristic features of tumors and relationship between features in cases who underwent surgery for nonmelanoma skin cancer (NMSC) of the head and neck. PATIENTS AND METHODS: Between December 2007 and March 2011, 106 lesions of 90 cases who underwent excision of NMSC of the head and neck in our clinic were included. The statistical analysis was performed by evaluating the demographic data, histopathologic type, size and thickness of tumor, location, Clark stage, T stage, risk of recurrence and the presence of recurrence, reconstruction technique and success rate of surgery. RESULTS: Basal cell carcinoma (BCC) was approximately two-fold more common than squamous cell carcinoma (SCC). The most common locations of tumors were the nose and lip. Most of lesions (71.7%) were at high-risk of recurrence. When the relationship of histopathologic type with the size and depth of tumor were analyzed, it was found that the size and thickness of tumor in SCC were relatively higher with a statistically significant difference. The relationship between histopathologic type and the location of tumors was also statistically significant. CONCLUSION: Basal cell carcinoma is the most common NMSC of the head and neck. Most of these cases have the potential of high rate of recurrence. The size and thickness of SCC are higher than BCC.