A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.

Lipoid proteinosis (LP) is an inherited disorder characterized by the accumulation of hyaline-like material in the skin, oral cavity, and larynx. The primary symptoms include hoarseness, restricted tongue movements, and various skin lesions. LP is caused by biallelic pathogenic variants in the ECM1 gene. We studied 20 patients from nine different families with LP, 19 of whom are from Sanliurfa in the southeastern region of Turkiye. Overall, the clinical features of the patient cohort were consistent with those mentioned in the literature, except for one exhibited an atrophoderma vermiculatum-like lesion, which is atypical for LP. The clinical exome sequencing analysis revealed three different homozygous variants in the ECM1 gene (NM_004425). While c.1246C>T p.(Arg416*) on Exon 8 and c.806G>A p.(Cys269Tyr) on Exon 7 were detected in 1 patient each, an intragenic deletion of 1163 base-pairs including Exons 9 and 10 (c.1304 + 33_*300del) was identified in 18 patients from 7 unrelated families. The haplotype analysis of the deletion variant indicated a founder effect in the families from the Sanliurfa province of Turkiye. Based on all this information, copy number variation analysis is recommended for patients with LP. In addition to this rare observation, this study represents the largest examination of the molecular spectrum of LP patients in Turkiye, alongside the clinical spectrum.

Clinical spectrum of nasal involvement in cutaneous leishmaniasis.

BACKGROUND: The clinical appearance of cutaneous leishmaniasis (CL) lesions located in the nasal area can be confused with many inflammatory or tumoral diseases. In this study, we aimed to determine the frequency of nasal involvement and the morphological variants of CL lesions located in the nasal region. METHODS: In this retrospective study, we included patients who presented to our Skin and Venereal Diseases Clinic in the province of Sanliurfa, located in the Southeastern Anatolia region of Turkey between September 2022 and October 2023, and were diagnosed with CL with nasal involvement. From the records of CL patients with nasal involvement in our clinic, we evaluated the clinical (lesion location, lesion type, lesion diameter, lesion duration, treatment) and demographic characteristics (age, gender). RESULTS: Of the patients (n = 278) diagnosed with CL using microscopic examination, 34 had nasal involvement, and the nasal involvement rate was 12.2%. Nineteen (55.8%) of the patients with nasal involvement were male, and 15 (44.2%) were female. Acute CL was detected in 28 patients (16 patients with dry-type lesions, 12 patients with wet-type lesions), and chronic CL was detected in six patients (four patients with lupoid and two patients with recidivant type lesions). According to the frequency distribution of clinical appearance, the most common lesions were eczema-like lesions, erysipeloid-type lesions, rhinophyma-like lesions, and lymphoma-like lesions. CONCLUSION: Physicians working in CL-endemic regions should strictly consider CL in the differential diagnosis of nasal lesions. Early diagnosis and treatment of CL might prevent possible scarring and mucosal spread.

Cutaneous findings in patients with acromegaly and its relationship with concomitant endocrinopathies.

OBJECTIVES: Skin changes in acromegaly are often the first sign of the disease. The aim of this study was to describe the cutaneous findings in patients with acromegaly. In addition, a secondary aim was to investigate the possible association of these findings with remission status and concomitant endocrinopathies. DESIGN, PATIENTS, AND MEASUREMENTS: In this prospective multicenter study, 278 patients over the age of 18 years with acromegaly who were followed up in 14 different tertiary healthcare institutions were included. These patients, who were followed up by the Endocrinology Department, were then referred to a dermatologist for dermatological examination. The frequency of skin lesions was investigated by detailed dermatologic examination. Dermatological diagnosis is reached by clinical, dermatological and/or dermoscopic examination, and rarely skin punch biopsy examinations in suspicious cases. The possible association of the skin findings between remitted and nonremitted patients and with concomitant endocrinopathies were evaluated. RESULTS: The most common skin findings in patients with acromegaly in our study were skin tags (52.5%), cherry angiomas (47.4%), seborrhoea (37%), varicose veins (33%), acneiform lesions (28.8%), hyperhidrosis (26.9%) and hypertrichosis (18.3%). Hypertrichosis was significantly more prevalent in patients nonremitted (p: .001), while xerosis cutis was significantly more prevalent in patients remitted (p: .001). The frequency of diabetes mellitus and hypothyroidism was significantly higher in patients with varicose veins and seborrhoeic keratosis than those without. Additionally, the coexistence of hypothyroidism, hyperthyroidism and galactorrhea was significantly higher in patients with Cherry angioma than in those without Cherry angioma (p-values: .024, .034 and .027, respectively). The frequency of hypogonadism in those with xerosis cutis was significantly higher than in those without (p: .035). CONCLUSIONS: Cutaneous androgenization findings such as skin tag, seborrhoea, acne and acanthosis nigricans are common in patients with acromegaly. Clinicians should be aware that skin findings associated with insulin resistance may develop in these patients. It can be said that the remission state in acromegaly has no curative effect on cutaneous findings. Only patients in remission were less likely to have hypertrichosis. This may allow earlier review of the follow-up and treatment of acromegaly patients presenting with complaints of hypertrichosis. Additionally, it can be said that patients with skin findings such as cherry angioma may be predisposed to a second endocrinopathy, especially hypothyroidism. Including dermatology in a multidisciplinary perspective in acromegaly patient management would be beneficial to detect cutaneous findings earlier.

Geriatric cutaneous leishmaniasis: a retrospective analysis of 622 cases.

BACKGROUND: Cutaneous leishmaniasis (CL) is most common in childhood because children are exposed to the parasite early and, unlike adults, do not have immunity to CL. Since CL is less common in geriatric patients, clinical and epidemiological data in this age group are limited. This study aims to compare the clinical and demographic characteristics of geriatric patients diagnosed with CL with young patients. METHODS: In this retrospective study, 622 patients aged 65 and over and 6350 patients aged 19-64, who applied to Sanliurfa Oriental Boil Diagnosis and Treatment Center between January 2013 and February 2024 and were diagnosed with CL by parasitological examination, were included. Clinical and demographic characteristics of patients diagnosed with CL, such as age, gender, location of the lesion, lesion size, duration of the lesion, and treatments applied due to the diagnosis of CL, were recorded. Clinical and demographic characteristics of geriatric and young patients were compared. RESULTS: The mean age of elderly CL cases was 72.95 ± 6.54 years, and 65.2% were female. The most common clinical forms were ulcers (51.9%) and plaques (41%), respectively, in young and elderly patients. The most common locations of the lesions were upper limbs (54.8%) in all patients. The most preferred treatment method was intralesional (IL) meglumine antimoniate (MA) treatment (98.3%) in all patients. There were no difference between young and elderly CL cases in terms of mean number of lesions, average lesion duration, average lesion size, lesion location, clinical forms of lesions, and treatments options (P > 0.05). CONCLUSIONS: Based on the results of our study, it can be said that the clinical and demographic characteristics of CL are similar in young and old patients and systemic MA treatment shows similar clinical benefit in both age groups. In addition, it can be said that systemic MA therapy can be used safely in young patients and elderly patients without contraindications. IL MA therapy can be used in elderly patients where systemic MA therapy is contraindicated.

Cutaneous leishmaniasis of the eyelids: Retrospective evaluation of 18 patients.

OBJECTIVE: Although eyelid involvement is rare in cutaneous leishmaniasis (CL), it can cause severe ocular complications if the diagnosis is delayed and not treated. Our purpose in this study is to examine the clinical characteristics, diagnosis, and treatment methods as well as accompanying ocular complications in patients with CL diagnosis and eyelid involvement. METHODS: In this retrospective study, the clinical characteristics, diagnosis, and treatment methods of the disease as well as accompanying ocular complications were examined for 18 patients with CL diagnosis and eyelid involvement between May 2018 and October 2022 in our Dermatology and venereal diseases clinic. RESULTS: 10 (55%) of the patients were male and 8 (45%) were female. Unilateral lower eyelid involvement was most common (9 patients [50%]). Chalazion-like lesions (8 patients [45%]) were observed most commonly. All patients were diagnosed with CL by direct microscopic examination and were given systemic meglumine antimonate treatment. No ocular complications were observed in any of the patients. CONCLUSION: It should be kept in mind that eyelid involvement may occur in CL, and ophthalmological examinations of these cases should be performed and treatment should be initiated in the early period to prevent possible ocular complications.

Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa.

Introduction: Epidermolysis bullosa (EB) is a genetically inherited disease characterized by recurrent bullae and erosions on the skin with numerous signs of dental caries and poor oral hygiene. The aim of this study was to investigate the general clinical and oral findings of patients with EB. Materials and Methods: In this prospective study, the clinical and oral findings and family history of 26 cases with EB were evaluated. The type of EB, gender, age, parental consanguinity, dental caries, oral findings, distribution of lesions and presence of associated anomalies, clinical and oral findings correlated with gender were recorded. Results: All 26 patients with EB had a history of consanguinity and siblings with EB to varying degrees. In our study, malnutrition, anemia and growth retardation, gastrointestinal system complications, hair thinning, hand and nail deformity, ocular problems and renal disease (in one case) were observed with variable frequencies. When the intraoral findings of the patients were investigated, extensive dental caries in all EB types, enamel hypoplasia in junctional EB (JEB) and the presence of tooth-root to be extracted in dystrophic EB (DEB), intraoral bullae and lesions, ankyloglossia, vestibular sulcus insufficiency, microstomia and maxillary atrophy were observed. Three cases had restorative treatment and one case had prosthetic rehabilitation. Conclusions: Oral involvement can be seen with varying frequencies depending on the type of EB and the severity of the disease. It may result from delayed oral and dental rehabilitation due to physical disabilities, limitations and more pressing medical problems. Microstomy, pain from mucosal lesions, and restricted access to the mouth can be caused by poor oral hygiene. Oral complications and caloric needs of individuals with EB should be determined, and individual prophylaxis should be applied to prevent caries formation and protect teeth.

Measurement of epicardial fatty tissue thickness has a diagnostic value in lichen planus patients and is associated with fibrinogen to albumin ratio and neutrophil to lymphocyte ratio.

OBJECTIVE: Lichen planus (LP) is one of the chronic inflammatory diseases. Epicardial fatty tissue (EFT) is the adipose tissue in which pro-inflammatory and pro-atherogenic hormones and cytokines are secreted. We planned to investigate the predictive value of EFT in LP patients by evaluating together with Fibrinogen to albumin ratio (FAR) other inflammation markers. MATERIALS AND METHODS: A total of 53 consecutive LP patients and 57 healthy controls were enrolled in this single-center, prospective, case-control study. Demographic data were recorded; blood tests were obtained from both groups. Then, EFT thickness was measured by echocardiography. RESULTS: Fibrinogen, FAR, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio, and EFT thickness were higher in LP patients (p < 0.05, for all). EFT was positively correlated with FAR (r = 0.306, p = 0.001), NLR (r = 0.240, p = 0.011), and PLR (r = 0.297, p = 0.002). ROC analysis indicated that FAR could predict LP with a sensitivity of 83 % and a specificity of 44 %; NLR could predict LP with a sensitivity of 80 % and a specificity of 46 %; EFT could predict LP with a sensitivity of 79 % and a specificity of 54 %. In the binary logistic regression analysis NLR, FAR, and EFT were found to be independent predictors of LP. CONCLUSION: We found a relationship between LP and FAR together with other inflammation parameters NLR, and PLR. We demonstrated for the first time that FAR, NLR and EFT were independent predictors of LP. Also, there was a significant relationship between these parameters and EFT (Tab. 4, Fig. 1, Ref. 30). Text in PDF www.elis.sk Keywords: lichen planus, epicardial fatty tissue, fibrinogen, albumin, neutrophil, lymphocyte.

Evaluation of choroidal thickness and ocular manifestations in lipoid proteinosis.

PURPOSE: To assess choroidal thickness in patients with lipoid proteinosis versus healthy subjects using enhanced depth imaging optical coherence tomography. METHODS: Twenty eyes of 20 patients and the same number of age and sex-matched healthy individuals were enrolled. Comprehensive ocular examinations including measurement of best-corrected visual acuity, spherical equivalent values of refractive errors, and axial length were performed. Choroidal thickness at three points (subfoveal, 500 µm nasal and temporal regions) were measured automatically using MATLAB software. RESULTS: The mean age was 15.68 ± 5.98 years in the patient group and 16.48 ± 5.69 years in the control group. Mean choroidal thickness was statistically significantly thicker at each point in patients with lipoid proteinosis compared to the healthy controls: subfoveal, temporal and nasal choroidal thickness measurements were 425.65 ± 51.42, 380.20 ± 69.66, 334.05 ± 49.98 µm in the study group; 346.15 ± 47.76, 330.15 ± 44.35, 298.95 ± 44.21 µm in the control group, respectively (P < 0.05). CONCLUSION: Patients with lipoid proteinosis have thicker choroid compared to control eyes. Hyalin deposition and ensuing potential inflammation in the disease process may explain this finding.

The effect of COVID-19 on development of hair and nail disorders: a Turkish multicenter, controlled study.

BACKGROUND: A broad spectrum of skin diseases, including hair and nails, can be directly or indirectly triggered by COVID-19. It is aimed to examine the type and frequency of hair and nail disorders after COVID-19 infection. METHODS: This is a multicenter study conducted on consecutive 2171 post-COVID-19 patients. Patients who developed hair and nail disorders and did not develop hair and nail disorders were recruited as subject and control groups. The type and frequency of hair and nail disorders were examined. RESULTS: The rate of the previous admission in hospital due to COVID-19 was statistically significantly more common in patients who developed hair loss after getting infected with COVID-19 (P < 0.001). Telogen effluvium (85%) was the most common hair loss type followed by worsening of androgenetic alopecia (7%) after COVID-19 infection. The mean stress scores during and after getting infected with COVID-19 were 6.88 ± 2.77 and 3.64 ± 3.04, respectively, in the hair loss group and were 5.77 ± 3.18 and 2.81 ± 2.84, respectively, in the control group (P < 0.001, P < 0.001). The frequency of recurrent COVID-19 was statistically significantly higher in men with severe androgenetic alopecia (Grades 4-7 HNS) (P = 0.012; Odds ratio: 2.931 [1.222-7.027]). The most common nail disorders were leukonychia, onycholysis, Beau's lines, onychomadesis, and onychoschisis, respectively. The symptoms of COVID-19 were statistically significantly more common in patients having nail disorders after getting infected with COVID-19 when compared to the control group (P < 0.05). CONCLUSION: The development of both nail and hair disorders after COVID-19 seems to be related to a history of severe COVID-19.

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome).

OBJECTIVE: Lipoid proteinosis is a rare autosomal recessive genetic dermatological disease that occurs due to the accumulation of hyaline material in the skin and mucous membranes. This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from lipoid proteinosis. METHODS: The study group involved 17 patients with lipoid proteinosis and 17 healthy controls with same gender and age. Native thiol, total thiol, disulfide levels, and thiol-disulfide indexes were measured with the fully automated spectrophotometric method described by Erel and Neselioglu, and the results of the two groups were statistically analyzed. RESULTS: Serum total thiol and native thiol levels were significantly lower in lipoid proteinosis group compared to the control group (p=0.020 and p=0.014, respectively). The disulfide levels were found to be higher in lipoid proteinosis group, but there was no significant difference between two groups. CONCLUSIONS: Impaired dynamic thiol-disulfide homeostasis was observed in lipoid proteinosis patients, suggesting that thiol-disulfide homeostasis may have a role in the pathogenesis of this disease.

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome)

SUMMARY OBJECTIVE: Lipoid proteinosis is a rare autosomal recessive genetic dermatological disease that occurs due to the accumulation of hyaline material in the skin and mucous membranes. This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from lipoid proteinosis. METHODS: The study group involved 17 patients with lipoid proteinosis and 17 healthy controls with same gender and age. Native thiol, total thiol, disulfide levels, and thiol-disulfide indexes were measured with the fully automated spectrophotometric method described by Erel and Neselioglu, and the results of the two groups were statistically analyzed. RESULTS: Serum total thiol and native thiol levels were significantly lower in lipoid proteinosis group compared to the control group (p=0.020 and p=0.014, respectively). The disulfide levels were found to be higher in lipoid proteinosis group, but there was no significant difference between two groups. CONCLUSIONS: Impaired dynamic thiol-disulfide homeostasis was observed in lipoid proteinosis patients, suggesting that thiol-disulfide homeostasis may have a role in the pathogenesis of this disease.

Cutaneous reactions after COVID-19 vaccination in Turkey: A multicenter study.

OBJECTIVES: In this study covering all of Turkey, we aimed to define cutaneous and systemic adverse reactions in our patient population after COVID-19 vaccination with the Sinovac/CoronaVac (inactivated SARS-CoV-2) and Pfizer/BioNTech (BNT162b2) vaccines. METHODS: This prospective, cross-sectional study included individuals presenting to the dermatology or emergency outpatient clinics of a total of 19 centers after having been vaccinated with the COVID-19 vaccines. Systemic, local injection site, and non-local cutaneous reactions after vaccination were identified, and their rates were determined. RESULTS: Of the 2290 individuals vaccinated between April 15 and July 15, 2021, 2097 (91.6%) received the CoronaVac vaccine and 183 (8%) BioNTech. Systemic reactions were observed at a rate of 31.0% after the first CoronaVac dose, 31.1% after the second CoronaVac dose, 46.4% after the first BioNTech dose, and 46.2% after the second BioNTech dose. Local injection site reactions were detected at a rate of 35.6% after the first CoronaVac dose, 35.7% after the second CoronaVac dose, 86.9% after the first BioNTech dose, and 94.1% after the second BioNTech dose. A total of 133 non-local cutaneous reactions were identified after the CoronaVac vaccine (2.9% after the first dose and 3.5% after the second dose), with the most common being urticaria/angioedema, pityriasis rosea, herpes zoster, and maculopapular rash. After BioNTech, 39 non-local cutaneous reactions were observed to have developed (24.8% after the first dose and 5% after the second dose), and the most common were herpes zoster, delayed large local reaction, pityriasis rosea, and urticaria/angioedema in order of frequency. Existing autoimmune diseases were triggered in 2.1% of the patients vaccinated with CoronaVac and 8.2% of those vaccinated with BioNTech. CONCLUSIONS: There are no comprehensive data on cutaneous adverse reactions specific to the CoronaVac vaccine. We determined the frequency of adverse reactions from the dermatologist's point of view after CoronaVac and BioNTech vaccination and identified a wide spectrum of non-local cutaneous reactions. Our data show that CoronaVac is associated with less harmful reactions while BioNTech may result in more serious reactions, such as herpes zoster, anaphylaxis, and triggering of autoimmunity. However, most of these reactions were self-limiting or required little therapeutic intervention.

Treatment of pediatric cutaneous leishmaniasis with liposomal amphotericin B.

The use of liposomal amphotericin B (L-AmB) in the treatment of cutaneous leishmaniasis (CL) is increasing. However, few data are available regarding the efficacy and safety of L-AmB in pediatric CL patients. Our aim in this study is to evaluate the efficacy and safety of L-AmB in pediatric CL patients. Pediatric patients admitted to a tertiary training and research hospital in a hyperendemic region for CL between January 2019 and May 2021 and receiving L-AmB therapy for CL were included in this retrospective study. L-AmB treatment was administered as 3 mg/kg for 5 consecutive days and on the 10th day, in a total of 6 doses (18 mg/kg total dose). A total of 52 pediatric patients who received L-AmB therapy for CL were included in the study. In the follow-up 3 months after L-AmB treatment, 16 (31%) patients showed complete clinical recovery, while treatment failure was detected in 36 (69%) patients. In conclusion, considering the low treatment success rate in our study, we think that the L-AmB dose used in our study is not an appropriate treatment option for the treatment of pediatric CL patients. However, we think that prospective studies with a large number of patients treated with higher doses of L-AmB and in whom the causative agents of CL were determined are needed.

Evaluation of inner ear and hearing functions in lichen planus patients.

BACKGROUND: Lichen planus (LP), which affects skin, nails, hair, and mucosal surfaces, is a chronic, autoimmune, and inflammatory disease, and autoimmune diseases may affect the inner ear. AIMS: This study aims to investigate hearing and inner ear functions of the LP patients. PATIENTS/METHODS: The present study was formed by 49 patients who were clinically and histopathologically diagnosed with LP and did not receive any treatment. The healthy group consisted of 52 healthy individuals. Pure tone audiometry (PTA) and distortion product otoacoustic emission tests were used in the hearing evaluation. RESULTS: At frequencies of 1, 2, 4, 6, and 8 kHz in the right ear and 0.5, 1, 2, 4, 6, and 8 kHz in the left ear in PTA, the lichen group's hearing thresholds were higher than the healthy group's. Upon comparing the hearing thresholds of LP patients with oral mucosa involvement and LP patients without oral mucosa involvement, there were significant differences between the groups at 1, 4, and 8 kHz in the right ear and at 0.25, 0.5, 2, 4, 6, and 8 kHz in the left ear. CONCLUSION: Because of the increasing hearing thresholds, we think that hearing and inner ear functions of LP patients, particularly with oral mucosal involvement, are negatively affected.

Are the kidneys involved in lipoid proteinosis? Study of 22 patients.

AIM: Lipoid proteinosis (LP) is a systemic, progressive, rare genodermatosis that manifests in early life with mucocutaneous lesions. Kidney involvement has not been described before, hence we aimed to investigate kidney findings in LP patients. MATERIALS AND METHODS: In this cross-sectional study, LP patients who were followed up and diagnosed with clinical, histopathological and radiological findings in the Dermatology outpatient clinic were invited to the Pediatric Nephrology Clinic. Biochemical, spot urine and 24-hour urine collection tests and ultrasound scans were scanned for the functional and anatomical status of the kidneys. Healthy controls who visited the Pediatric Nephrology Clinic during study periods for other reasons were invited to participate as the control group. RESULTS: Data of 44 participants (22 LP patients, mean age 14.5 years and 22 healthy controls, mean age 14.3 years) were available for the analysis. Ultrasound scans revealed simple renal cysts in 68% of LP patients. The cysts were bilateral in 4 patients, while no cyst was detected in healthy controls. Biochemical parameters, proteinuria, and albuminuria were all within the normal reference range in both LP patients and healthy controls, whereas LP patients had statistically significant lower serum albumin and higher C-reactive protein levels than healthy controls. CONCLUSION: Multiple simple renal cysts were detected in the majority of LP patients, and this finding could be part of the systemic involvement of the disease. Renal functions and biochemical parameters were within the normal reference range, but low serum albumin and high C-reactive protein levels in LP patients may be the signs of elevated systemic inflammation. Although more studies are needed to better define these findings, the presence of many simple renal cysts in LP patients was found to be the most important finding of this study.

The effect of secukinumab treatment on inflammatory parameters in patients with psoriasis: A multicentre restrospective study.

AIM: Psoriasis is a common chronic inflammatory disease of the skin with remission and relapses. The aim of this study was to investigate the change in inflammatory parameters such as neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR) and mean platelet volume (MPV) in patients receiving secukinumab treatment for psoriasis vulgaris (PV). MATERIALS AND METHODS: In this retrospective study, we evaluated the laboratory results of 40 patients who were followed up with a diagnosis of PV and received secukinumab treatment in three different dermatology clinics between July 2018 and September 2019. RESULTS: Neutrophil count and leukocyte count were significantly decreased after secukinumab treatment. (P < .001) There was no statistically significant difference between lymphocyte count, platelet count, MPV, NLR and PLR values before treatment and at the 4th month of treatment (P values .230, .065, .110, .915 and .365, respectively). CONCLUSION: In conclusion, it can be concluded that parameters such as NLR, PLR and MPV are not suitable parameters for monitoring the effects of secukinumab treatment on inflammation.