Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis.

BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2. AIMS: This study aimed to present the profile of ECM1 gene mutations and to identify possible novel mutations specific to Turkey. MATERIALS AND METHODS: The ECM1 gene mutations of 19 LP patients from five families were evaluated using DNA isolated from peripheral blood samples. All ten exons in the ECM1 gene region were amplified by polymerase chain reaction (PCR). The PCR products were analyzed using a DNA sequencing analyzer. The results of DNA sequencing were analyzed with bioinformatics methods. RESULTS: of the 19 LP patients evaluated in our study, we detected defects in exon 6 (c.507delT, 658T>G), exon 9 (157C>T, 727C>T), and exon 10 (c.93_94delGCinsTT) of the ECM1 gene. CONCLUSIONS: Our results indicate that defects in exons 6, 9, and 10 of the ECM1 gene were responsible for LP in our country. The identification of these pathogenic mutations is valuable because it facilitates early diagnosis and genetic counseling.

Serum ghrelin levels in patients with Behcet's disease.

INTRODUCTION: Behcet's disease (BD) is a chronic, relapsing, systemic vasculitis of unknown etiology. AIM: To measure serum ghrelin levels in BD patients and healthy controls and to investigate its association with metabolic syndrome (MetS). MATERIAL AND METHODS: Thirty BD patients and 30 healthy individuals were enrolled in the study. Ghrelin levels were measured in blood samples using ELISA. RESULTS: The mean serum ghrelin level in BD patients (28.57 ±14.04) was significantly lower compared to healthy controls (40.72 ±23.21) (p = 0.01). The mean serum ghrelin level in BD patients who had MetS (24.18 ±12.73) was lower compared to BD patients who did not have MetS (30.77 ±14.45), but this difference was not significant (p > 0.05). CONCLUSIONS: Ghrelin levels were lower in BD patients compared to healthy controls. There was no association between reduced ghrelin levels and MetS; however, there was a negative correlation between ghrelin levels and disease activity.

Prevalence of glaucoma in patients with vitiligo.

Vitiligo is an acquired idiopathic disease characterized by depigmented maculae and melanocytic destruction. We determined the prevalence of glaucoma in 49 patients who had presented to the dermatology polyclinic with vitiligo and compared that with the prevalence of glaucoma in 20 age- and sex-matched healthy controls. All patients were given an ophthalmologic examination to identify any glaucomatous changes. In the vitiligo group, 9 patients (18.4%) were found to have signs of normal-tension glaucoma (NTG), while there were no signs of NTG in the control group. This difference between the 2 groups was statistically significant (P=.04). Because glaucoma can cause permanent vision loss when left untreated, its greater prevalence among patients with vitiligo suggests that these patients should be carefully monitored.

Serum Preptin and Amylin Values in Psoriasis Vulgaris and Behçet's Patients.

BACKGROUND: Insulin resistance is found in both psoriasis and Behçet's disease. No study has yet explored whether preptin and amylin, two hormones associated with insulin resistance, are involved in the insulin resistance observed in patients with psoriasis and Behçet's disease. OBJECTIVES: We aimed to explore how the amounts of preptin and amylin change in psoriasis and Behçet's disease and whether they are involved in the etiopathology of these two diseases, by comparing hormone levels in patients and healthy controls. METHODS: The study registered 30 patients with psoriasis, 30 patients with Behçet's disease, and 30 healthy volunteers (as a control group). Fasting blood sugar, triglyceride, LDL, VLDL, HDL, total cholesterol, HbA1c, C-peptide, insulin, and serum preptin and amylin levels were measured in all subjects. RESULTS: Serum preptin and amylin levels were significantly lower in the patients with psoriasis and Behçet's disease than in the control group (P < 0.001, P = 0.004, and P = 0.008, respectively). A comparison of the serum preptin and amylin levels between the patients with psoriasis and Behçet's disease did not reveal a statistically significant difference. Serum insulin level and The homeostasis model assessment of insulin resistance (HOMA-IR) index were significantly lower in the psoriasis patient group relative to the control group (P = 0.02 and P = 0.03, respectively), while the values for the Behçet's disease group did not differ significantly from those for the control group CONCLUSIONS: Serum levels of preptin and amylin were significantly lower in patients with psoriasis and Behçet's disease, indicating that these hormones may be a factor for development of metabolic syndrome in these two diseases.

Ghrelin in the pilosebaceous unit: alteration of ghrelin in patients with acne vulgaris.

BACKGROUND: Ghrelin in the pilosebaceous tissues of human skin and ghrelin levels in patients with acne vulgaris have not yet been investigated. OBJECTIVE: The purpose of this study was to screen ghrelin immunoreactivity by immunohistochemistry in human pilosebaceous tissues of human skin and also to determine the quantities of ghrelin in the serum of the patients with acne vulgaris. METHODS: 30 patients presenting with acne vulgaris and 30 control subjects participated in this study. Ghrelin levels were determined by enzyme linked immunosorbent assay (ELISA). Human hair follicles and sebaceous glands were immunohistochemically examined. RESULTS: Immunohistochemistry results showed that there is a strong ghrelin immunoreactivity in the hair follicles and sebaceous glands in sections of human skin. The mean serum ghrelin levels (27.58 ・} 15.44 pg/mL) in patients with acne vulgaris was significantly lower than those of controls (35.62・}20.46 pg/mL). CONCLUSIONS: Ghrelin produced in hair follicles and sebaceous glands of the skin might participate in the pathogenesis of acne vulgaris and also acne vulgaris in humans might be associated with decreased serum ghrelin.

Changes in serum desnutrin levels in patients with acne vulgaris.

BACKGROUND: Androgens and insulin may contribute to increased sebum production in the pathogenesis of acne vulgaris. OBJECTIVE: We investigated the association between serum desnutrin levels and acne vulgaris in the pathogenesis of insulin resistance. MATERIAL AND METHODS: 25 patients presenting with acne vulgaris and 25 control subjects participated in this study. Fasting blood glucose, triglycerides, LDL, VLDL, HDL, total cholesterol, insulin, C-peptide and thyroid function tests were measured. The homeostasis model assessment of insulin resistance (HOMA-IR) was used to calculate insulin resistance. Desnutrin levels were determined by enzyme-linked immunosorbent assay (ELISA) according to the manufacturer's protocol. RESULTS: Patients with acne vulgaris had a mean serum desnutrin level of (8.83 ± 1.13 µIU/mL), which was statistically significantly lower in the control group (10:58 ± 3.43 µIU/mL). In patients with acne vulgaris the serum glucose levels, insulin levels and HOMA-IR values (87.92 ± 7:46 mg/dL, 11.33 ± 5.93 µIU/mL, 2.49 ± 1.40, respectively) were significantly higher than the control group (77.36 ± 9.83 mg/dL, 5.82 ± 2.68 µIU/mL, 1.11 ± 0.51, respectively) (p = 0.01, p<0.001, p<0.001, p<0.001, respectively). CONCLUSION: Full cohort (patients and controls) evaluation revealed a negative correlation between the serum glucose and desnutrin levels (r = -0.31, p<0.05). A positive correlation was found between insulin and desnutrin levels (r = 0.42, p<0.001). In patients with acne vulgaris, as a result of increased levels of serum glucose and insulin, the function of desnutrin was suppressed, perhaps contributing to insulin resistance.

Serum salusin-α and salusin-ß levels in patients with Behcet's disease.

BACKGROUND: Behcet's disease (BD) is a chronic, relapsing, systemic vasculitis of unknown etiology. There is an increased predisposition to insulin resistance and metabolic syndrome (MetS) in BD patients. OBJECTIVE: The aim of this study was to determine serum salusin-α and salusin-ß levels in BD patients and healthy controls and to investigate their association with MetS. PATIENTS AND METHODS: Twenty-five BD patients and 25 healthy controls were included in the study. Salusin-α and salusin-ß levels were measured in blood samples using ELISA. In addition, BD patients and healthy controls were evaluated in terms of MetS. RESULTS: The mean serum salusin-α level in BD patients was significantly lower compared to healthy controls (p = 0.03), whereas the mean serum salusin-ß level in BD patients was significantly higher compared to healthy controls (p = 0.03). The mean serum salusin-α level was significantly lower in BD patients with MetS compared to BD patients without MetS (p = 0.04). CONCLUSIONS: Serum salusin-α level (an anti-atherogenic molecule) was lower, while serum salusin-ß level (a pro-atherogenic molecule) was higher in BD patients. We consider that the decrease in salusin-α and the increase in salusin-ß levels contribute to the development of MetS.

Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population.

BACKGROUND: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders. OBJECTIVE: The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population. METHODS: One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls. CONCLUSION: We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalized-vitiligo patients.

Demographic, clinical, and radiologic signs and treatment responses of lipoid proteinosis patients: a 10-case series from Sanliurfa.

OBJECTIVES: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness that develop in early childhood. This paper presents the clinical and radiologic characteristics and treatment responses of 10 LP patients from five different families. METHODS: Ten LP patients followed in our university clinic in Sanliurfa, Turkey, were evaluated. Clinical features, as well as histopathologic and radiologic findings, were analyzed. Diagnoses were established based on clinical features, with histopathologic confirmation in nine cases. The patients were started on acitretin at a dose of 0.5 mg/kg/day for six months. RESULTS: Typical cutaneous signs of LP and hoarseness of the voice were observed in all patients. No side effects associated with the drug were found during treatment. At the end of the sixth month, the cutaneous papules and plaques were diminished in seven patients. Hoarseness receded in seven patients (particularly in three), vesiculobullous lesions were reduced in three patients, and the frequency of oral ulcers decreased in three patients. In a patient with palmoplantar hyperkeratosis, lesions were found to disappear completely. CONCLUSIONS: We believe acitretin is quite effective and reliable in the treatment of cutaneous lesions and hoarseness in patients with LP.

Metabolic changes and serum ghrelin level in patients with psoriasis.

Background. Serum ghrelin levels may be related to metabolic and clinical changes in patients with psoriasis. Objective. This study was performed to determine the possible effects of serum ghrelin in patients with psoriasis. Methods. The study population consisted of 25 patients with plaque psoriasis. The patients were questioned with regard to age, gender, age of onset, duration of disease, height, weight, and body mass index (BMI). In addition, fasting blood sugar, triglyceride, cholesterol levels, insulin, and ghrelin levels were measured. Results. The mean serum ghrelin level was 45.41 ± 22.41 in the psoriasis group and 29.92 ± 14.65 in the healthy control group. Serum ghrelin level was significantly higher in the psoriasis group compared with the controls (P = 0.01). The mean ghrelin level in patients with a lower PASI score was significantly higher than in those with a higher PASI score (P = 0.02). Conclusion. The present study was performed to determine the effects of ghrelin in psoriasis patients. We found a negative correlation between severity of psoriasis and ghrelin level. Larger and especially experimental studies focusing on correlation of immune system-ghrelin levels and severity of psoriasis may be valuable to clarify the etiopathogenesis of the disease.

Efficacy of topical tacrolimus for the treatment of persistent pruritus ani in patients with atopic dermatitis.

BACKGROUND: Pruritus ani (PA) is defined as intense chronic itching affecting perianal skin. OBJECTIVE: We aimed to determine the efficacy of topical tacrolimus treatment in atopic dermatitis (AD) patients who have PA. METHODS: The study included 32 patients with AD who were suffering PA. Patients were randomized into two groups. In total, 16 patients used 0.03% tacrolimus ointment and 16 patients used vaseline as placebo. All groups applied topical treatments to their perianal area twice daily for 4 weeks. The treatments were then reversed for 4 weeks after a 2 weeks wash out period. RESULTS: In total, 32 patients with AD who had refractory anal itching were enrolled in this study. None of the patients had obtained successful results with previous treatments. There was a statistically significant decrease in the recorded EASI, DLQI and itching scores for the tacrolimus group compared to the placebo group at weeks 4 and 6 of treatment (p < 0.05). CONCLUSION: Topical tacrolimus treatment was well tolerated and effective in controlling persistent PA in AD patients.

Dermatology life quality index scores in children with vitiligo: comparison with atopic dermatitis and healthy control subjects.

Vitiligo and atopic dermatitis (AD) are two major cutaneous diseases that affect quality of life (QoL) by causing functional and psychosocial disorders. Our objective was to calculate Children's Dermatology Life Quality Index (CDLQI) scores in children with vitiligo and to compare these values with those in AD patients and healthy control subjects. The CDLQI was completed for 50 vitiligo and 50 AD patients presenting at the dermatology polyclinic, as well as for 50 age- and sex-matched healthy controls. All subgroups in the vitiligo patient group had significantly higher total CDLQI scores than healthy controls. Vitiligo patients were found to have increased scores on all parameters, except itch, clothes/shoes, and sleep, compared with the AD patient group. Scores on itch and sleep were significantly higher in the AD group than in the vitiligo patients. Quality of life in children with vitiligo is substantially lower than in children with AD. This decline in QoL is critical in the psychosocial development of the former group.

Coexistence of vitiligo and psoriasis: three case reports.

Vitiligo and psoriasis are both common diseases. However, coexistence of these two diseases is rare. The pathogenesis of the coexistence of vitiligo and psoriasis is still unknown. Herein, we report three children (11-year-old, 8-year-old, and 7-year-old females) who attended our Department of Dermatology with coexisting vitiligo and psoriasis.

The comparison of treatment with clobetasol propionate 0.05% and topical pimecrolimus 1% treatment in the treatment of alopecia areata.

BACKGROUND: Alopecia areata (AA) is a non-scarring hair loss. OBJECTIVE: We aimed the comparison of clobetasol propionate and pimecrolimus efficiency and tolerability in the treatment of AA. METHODS: The study included a total of 100 consecutive patients with AA. Patients were randomized into four groups. 30 patients used 1% pimecrolimus cream, 30 patients used 0.05% clobetasol propionate cream, 20 patients used petrolatum as placebo. Scalp of 20 patients was divided into two equal areas and one area was treated with 1% pimecrolimus cream and the other area with 0.05% clobetasol propionate cream. RESULTS: At week 12 of treatment, the recovery rate of the pimecrolimus group was 53.73 ± 44.49 and the recovery score was 3.63 ± 2.07; that of the clobetasol propionate group was 47.00 ± 44.80 and the recovery score was 3.33 ± 2.20; that of the placebo group was 35.50 ± 40.53 and the recovery score was 2.75 ± 1.88. There was no statistically significant difference among the groups in terms of the percentage of recovery and the recovery score (p < 0.05). CONCLUSION: In conclusion, we detected that topical pimecrolimus treatment is as effective as topical corticosteroids and is superior to topical corticosteroids in terms of side effects in the treatment of AA.