Association of MEFV mutations and vascular involvement in Behçet's disease: a study from Hatay, Turkey.

Introduction: In this study, we aimed to determine the frequency of MEFV mutations in Behçet's disease (BD) and to investigate the relationship between clinical findings of the disease and the MEFV mutations. Material and methods: A total of 66 participants (30 BD patients, 36 healthy subjects) were included in this study. The MEFV gene was analyzed by using DNA sequence analysis. Results: The distribution of MEFV mutations was not significantly different between the patients and the control group (p = 0.373). However, individuals with R202Q mutation had a risk of OR 4 times (95% CI: 1.1-14.5) higher than those without the mutation (p = 0.035). The rate of vascular involvement was statistically significantly higher in patients with the mutation than in patients without the mutation (p = 0.005). Conclusions: MEFV mutation was associated with vascular involvement in patients with BD. This is also the first study to indicate that the R202Q mutation may have a role in BD. However large series from different regions are required to compare these results.

Clinical characteristics and treatment outcomes in patients with urticarial vasculitis.

OBJECTIVE: Urticarial vasculitis (UV) is an uncommon disease clinically presenting with pruritic urticarial plaques of the skin. The disease is classified as normocomplementic and hypocomplementemic types according to their complement levels. We aimed to evaluate demographic characteristics, laboratory findings, and response to treatment of patients diagnosed as UV in our clinic. METHODS: Between January 2015 and January 2019, the files of the patients were retrospectively reviewed. Demographic data, clinical features, laboratory findings, suspected triggering factors, disease course, treatment modalities, and treatment results of the patients were recorded. RESULTS: A total of 16 patients (nine males [56.25%], seven females [43.75%]) were included in the study.The mean age at diagnosis was 45.2±10.4 years and the duration of the disease was 72.1±62 months. Twelve (75%) patients had angioedema and two (12.5%) patients had residual hyperpigmentation. The most common extracutaneous finding was arthralgia (43.7%). No hypocomplementemia was detected in the patients. The most common abnormal laboratory findings were CRP elevation (37.5%) and ANA positivity (n=4/15, 26.7%). Analgesic and antibiotic drugs use were the most common possible triggering factors for the disease (n=9, 56%). Oral antihistamines, oral corticosteroids, azathioprine, colchicine, dapsone, hydroxychloroquine, doxepin, and omalizumab were among the treatments given to the patients. Complete remission was achieved in three patients. CONCLUSION: Compared with other studies, we found that angioedema was more frequent, postinflammatory hyperpigmentation was lower and long-term treatment was needed to control UV attacks. There are a few studies on UV and we think that more and larger patient groups are needed for standardization of treatment.

Scale and Pustule on Dermoscopy of Rosacea: A Diagnostic Clue for Demodex Species.

BACKGROUND: Demodex mites are highly found in the skin of patients with rosacea. The diagnosis of Demodex can be made by standardized skin surface biopsy. Dermoscopy is a tool used in the noninvasive diagnosis of various dermatological diseases. OBJECTIVES: To determine whether dermoscopic features of demodicosis are associated with the result of standardized skin surface biopsy in patients with rosacea and to compare dermoscopic features of rosacea in Demodex-positive and negative samples and Demodex type. METHODS: A total of 30 patients (7 male, 23 female) were included in the study. Dermoscopic examination was performed on both the clinically most severely affected areas and adjacent healthy skin. The skin surface biopsy sample was taken from the same place from where the dermoscopic image was taken. RESULTS: A total of 83 (lesion n = 60, non-lesion n = 23) areas were evaluated. Demodex was detected in 60.2% (n = 50) of the samples. Half of these samples revealed only Demodex folliculorum, and the remaining half revealed D folliculorum and Demodex brevis. Of the Demodex-positive samples, 88% had Demodex tails (P =0.001) and 68% Demodex follicular openings (P = 0.002) on dermoscopy. In D folliculorum+D brevis-positive samples, the rate of scale and pustule was higher than D folliculorum-positive samples (P = 0.017 and P = 0032, respectively). CONCLUSIONS: The sensitivity and specificity of Demodex tail are higher than Demodex follicular opening and scale and pustule detection with dermoscopy and may indicate the coexistence of both D folliculorum and D brevis.

Role of adiponectin and leptin in patients with alopecia areata with scalp hair loss.

BACKGROUND/AIMS: Alopecia areata (AA) is considered an organ-specific autoimmune disease of hair follicles. Adipose tissue plays a role in lipid metabolism and glucose metabolism and secretes adipokines such as leptin and adiponectin. Dysregulation in the adipokine balance may be associated with metabolic syndrome. We aimed to determine serum adipokine levels in AA patients and compare them with healthy controls, and to determine whether there was metabolic syndrome and insulin resistance in the AA patients. METHODS: A total of 70 participants were included in the study. Patients were divided into two subgroups: patients with scalp hair loss were in subgroup 1 (AA1). Patients with beard and eyebrow hair loss were in subgroup 2 (AA2). Serum adiponectin, leptin, TNF-α, insulin, fasting glucose, TG, and HDL were analyzed. RESULTS: Thirty-six (25 male, 11 female) patients with AA and 34 (18 male, 16 female) healthy subjects were included in the study. Metabolic syndrome was detected in three of the AA patients and in two of the healthy subjects. Serum leptin, adiponectin, TNF-α, TG, HDL, and insulin levels and HOMA-IR scores were not statistically significant in patients compared with control subjects, except fasting glucose levels (p = 0.035). However, serum leptin and adiponectin levels were significantly higher in AA1 (n = 25) subgroup compared with the control group (p = 0.029, p = 0.026 respectively). There was a statistically significant increase in the fasting glucose level, while there were no differences in other parameters between the AA2 (n = 11) subgroup and the control group. CONCLUSIONS: To our knowledge, this is the first report indicating that adiponectin and leptin probably has a role in the pathogenesis of AA with scalp hair involvement.

Evaluation of clinical and demographic characteristics of Turkish and Syrian pediatric cutaneous leishmaniasis patients from Hatay, Turkey after the Syrian civil war.

INTRODUCTION: Cutaneous leishmaniasis (CL) is a skin disease affecting all ages but especially children. Cutaneous leishmaniasis exists in Turkey, and, especially together with emigration from Syria to Turkey in recent years due to the civil war in Syria, the incidence of the disease has increased. AIM: To investigate Syrian patients (SP) and Turkish patients (TP) in the pediatric age group who were diagnosed with CL and to compare the age, gender, clinical type, number of lesions, and lesion localizations of these patients. MATERIAL AND METHODS: We included CL patients aged 0-18 who were admitted to the outpatient clinic in the period 2015-2017 and in the first half of 2018. A total of 121 patients (SP, n = 87; TP, n = 34) were included in the study. RESULTS: The mean ages of TP and SP were 12.06 ±4.47 and 8.68 ±5.18 years and the disease durations were 6.25 ±3.86 and 4.73 ±3.39 months respectively (p = 0.049). The total number of lesions was 247. The mean lesion number per child was 2.35 ±2.28 in SP, and 1.23 ±0.55 in TP (p = 0.002). Two and multiple lesions were significantly higher in SP (p = 0.005). It was found that the lesions were most frequently located in the head/neck (HN) region (76.9%) and 44.1% of patients with HN localization belonged to the 7-12 age group. We also found that 57.1% of the HN lesions were of the papule type in the patients. CONCLUSIONS: We obtained similar results as in other studies in terms of age, gender, localization, and duration of lesions in general. When SP and TP were compared, we found that the number of lesions was higher, the disease duration was shorter, and the mean age was younger in SP.

Dermoscopy in the Diagnosis of Cutaneous Leishmaniasis.

BACKGROUND: Cutaneous leishmaniasis (CL) is a protozoan infectious disease. Dermoscopy is a noninvasive diagnostic tool that has been applied to several skin diseases, including infestations. OBJECTIVES: To determine the dermoscopic patterns of CL lesions and to investigate whether a relationship exists between dermoscopic characteristics and the disease duration, localization, and type of CL lesions. METHODS: Seventy-nine patients (48 male, 31 female) from Hatay, Turkey, were enrolled in the study and a dermoscopic evaluation was performed on 139 lesions. Images of CL lesions were taken via polarized light contact dermoscopy. Chi-square and Fisher exact tests were used for statistical analyses and P values <0.05 were considered significant. RESULTS: Generalized erythema was seen in all CL lesions. Vascular structures (94.2%), yellow tears (75.5%), and a white starburst-like pattern (58.3%) were the other most common dermoscopic features. Hyperkeratosis (P = 0.001) and white starburst-like pattern (P < 0.001) were more prevalent in the extremities than elsewhere. Among vascular structures, linear irregular (45.8%), hairpin (43.5%), and comma-shaped (25.9%) patterns were the most common dermoscopic findings. Linear irregular (P = 0.023) and arborizing vessels (P = 0.001) were observed in the head-neck region. Dotted (P = 0.009), hairpin (P < 0.001), and glomerular-like (P = 0.016) morphological findings were more prevalent in the extremities. Statistical significances in disease duration were detected in microarborizing (P = 0.027) and arborizing (P = 0.004) vessels and were most prevalent with a disease duration of >6 months. Hairpin vessels were prevalent in the plaque and nodulo-ulcerative type of lesions. Dotted vessels were most commonly seen in the plaque type (47.4%) of lesions. CONCLUSIONS: Generalized erythema, yellow tears, and starburst-like patterns, as well as linear irregular, hairpin, comma-shaped, and arborizing vessels, were the most commonly detected dermoscopic features of CL lesions. We suggest that the presence of these features can be helpful when diagnosing CL lesions by dermoscopy.

Angioedema is an unfavorable factor for the response to omalizumab in chronic spontaneous urticaria: A retrospective study.

Antihistamines are the first-line treatment option for chronic urticaria. In recent years, omalizumab, an anti-immunoglobulin-E humanized monoclonal antibody, has been used in patients with recalcitrant disease. The present study aimed to retrospectively evaluate the efficacy and safety of omalizumab and determine whether there was a difference between complete and partial responses to omalizumab with respect to age, gender, disease duration and coexistence of angioedema. From May 2014 to December 2016, a total of 40 refractory chronic urticaria patients were treated with omalizumab. Complete response was observed in 19 (47.5%) patients, and partial response was observed in 18 (45%) patients. There were no statistically significant differences between the rates of complete and partial responses in patients with respect to gender, age, and disease duration. However, complete response was more frequent (60%) in patients without angioedema. Remission was observed in 40.5% (n = 15) of patients, and the follow-up time was 5.5 ± 2.4 months. There was a statistically significant association between remission and coexistence of angioedema (p < .05). Eighty-seven percent (13/15) of the remission patients did not have angioedema. Thus, omalizumab can be used effectively and safely in refractory chronic urticaria patients. However, the coexistence of angioedema may be an unfavorable factor for complete response and remission.

Cutaneous leishmaniasis mimicking granulomatous cheilitis and treated successfully with oral fluconazole in a boy.

Cutaneous leishmaniasis is a protozoan infectious disease and widespread in Mediterranean basin including Turkey. Lesions usually start with erythematous papules, gradually enlarges and afterwards it ulcerates. We present a 12-year-old boy with diffuse persistent lip swelling mimicking granulomatous cheilitis. Systemic glucantime was started. However, severe hypotension and bradycardia was developed after injection. Oral fluconazole was started and the lesion resolved completely. Cutaneous leishmaniasis can have varied clinical manifestations and should be suspected especially in endemic areas. Oral fluconazole seems to be safe and effective treatment modality in paediatric cases.

Periorbital edema and erythema: an unusual localization of DLE in a patient with psoriasis.

Discoid lupus erythematosus (DLE) is characterized by erythematous, raised, indurated papules or plaques. DLE may rarely present as periorbital erythema and edema. We report the case of a 33-year-old woman with psoriasis localized on the trunk and extremities who developed prominent periorbital edema and erythema diagnosed as DLE.

Audiological and transient evoked otoacoustic emission findings in patients with vitiligo.

OBJECTIVE: To investigate hearing loss in patients with vitiligo. STUDY DESIGN: Case-control study. SETTING: University hospital. SUBJECTS AND METHODS: Conventional pure-tone and high-frequency audiometric tests were obtained, and pure-tone average hearing thresholds were calculated for 22 consecutive cases with vitiligo and 22 sex- and age-matched controls. Transient evoked otoacoustic emission testing was also performed. RESULTS: There was sensorineural hearing loss on pure-tone audiogram in 16 (36.4%) ears in patients with vitiligo. The hearing thresholds (in dB) were 16.02 +/- 6.61 versus 12.39 +/- 6.05, 15.68 +/- 6.34 versus 13.18 +/- 3.75, 15.80 +/- 13.93 versus 7.39 +/- 6.95, 25.11 +/- 17.40 versus 15.91 +/- 12.91, 29.89 +/- 18.57 versus 17.84 +/- 12.36, and 45.91 +/- 23.31 versus 33.86 +/- 15.99 in the patient and control groups at 0.25, 1, 4, 8, 10, and 12.5 kHz, respectively, and were statistically significantly different. Reduction of transient evoked otoacoustic emission amplitude was statistically significant at 4 kHz in patients with vitiligo (6.34 +/- 3.98 dB vs 8.63 +/- 5.15 dB, P = 0.023). There was no significant difference in reproducibility, stimulus intensity, stability, and average transient evoked otoacoustic emission amplitudes in patients with vitiligo. CONCLUSION: Hearing thresholds at pure-tone and high-frequency audiometry were higher in patients with vitiligo. Also, significantly lower high-frequency amplitudes were recorded during transient evoked otoacoustic emission testing in the disease group.

High prevalence of pulmonary hypertension in homozygous sickle cell patients with leg ulceration.

Pulmonary hypertension is a common complication and is a risk factor for death in adult patients with sickle cell disease. Chronic leg ulceration is a major cause of morbidity in homozygous sickle cell disease. We aimed to determine prevalence of pulmonary hypertension in homozygous sickle cell patients and if there is any relation of pulmonary hypertension with leg ulceration. A total of 88 patients, asymptomatic for pulmonary hypertension, were enrolled in the study. Doppler echocardiography was performed on homozygous sickle cell patients with and without leg ulceration. 12 patients (10 male, 2 female) had active ulcer or healed scar (group I) and 76 patients (40 male, 36 female) had no active leg ulcer or history of (group II). The prevalence of pulmonary hypertension in group I and group II were 91.6% (n = 11) and 31.6% (n = 24), respectively (p = 0.0001). Patients with leg ulceration had increased left atrium and right ventricular diameters at diastole and also had increased left ventricular end-diastolic and end-systolic diameters. We determined an increased prevalence of pulmonary hypertension in patients with leg ulceration. Patients with homozygous sickle cell disease, especially those with leg ulcers should be screened for pulmonary hypertension, since pulmonary hypertension is a frequent and generally asymptomatic complication and a risk factor of mortality.

Sickle cell disease with regional silent cerebral infarction detected by SPECT.

An 18-year-old boy was admitted to the hospital for a right leg ulcer, which appeared 1 year ago. After physical and hematologic examinations, he was referred for neurologic and cardiologic examination because his hemoglobin analysis and hematologic findings were interpreted as being consistent with sickle cell anemia. Although he had no neurologic symptoms, MRI and Tc-99m ethyl cysteinate dimer cerebral perfusion single photon emission computer tomography were performed to rule out a silent cerebral infarction. Changes secondary to an infarct were seen in the region of the caudate nucleus.

Pustular psoriasis-like tinea incognito due to Trichophyton rubrum.

Tinea incognito describes fungal infections with atypical clinical features and is usually caused by administration of steroids. We describe an 11-year-old girl who presented with widespread erythematous and pustular lesions being treated with topical corticosteroid. The diagnosis was confirmed by mycological examination including culture. Complete clinical resolution was observed with oral and topical antimycotic treatment.

Acitretin treatment in acrokeratosis verruciformis of Hopf.

Acrokeratosis verruciformis of Hopf is a rare disorder and characterized by flesh-coloured, wart-like, flat papules on the dorsum of the hands and feet. The disease is an autosomal disorder, but sporadic cases also occur. We present a 38-year-old woman diagnosed with acrokeratosis verruciformis without family history and treated successfully with acitretin.

The relationship between nail- and distal phalangeal bone involvement severity in patients with psoriasis.

We aimed to investigate the relationship between nail involvement and joint manifestations and whether there was a correlation between nail psoriasis severity and bone manifestations in psoriatic patients without symptomatic psoriatic arthritis in plaque type psoriasis. Thirty-one patients with nail involvement (16 men, 15 women, mean age 45.29+/-18.73) and 39 patients without nail involvement (16 men, 23 women, mean age 38.41+/-17.33) were enrolled in the study. X-ray of the hands and feet with magnification were performed. The distal interphalangeal (DIP) joint and bone (tuft of terminal phalanx) were evaluated. A scoring method was performed on the patients with nail involvement. There was no difference in DIP joint involvement in patients with or without finger- and toenail involvement (p=0.085 and p=0.062, respectively). However, the prevalence of bone involvement was higher in patients with finger- and toenail involvement than without finger- and toenail involvement (p=0.039 and p=0.021, respectively). A positive correlation was also determined between finger- and toenail psoriasis severity and bone involvement severity (r=0.379, p=0.001 and r=0.288, p=0.015).