Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive genetic disorder, characterized by exocrine pancreatic insufficiency, a distinct abnormal facial appearance and varying degrees of growth retardation. Ubiquitin protein ligase E3 component n-recognin 1 ( UBR1 ) gene mutations are responsible for the syndrome. Here, we describe a 2-month-old female infant, who presented with oily diarrhea, facial dysmorphia, scalp defect, hearing defects, and growth impairment. Molecular genetic testing revealed a novel frameshift mutation in UBR1 , c.4027_4028 del (p.Leu1343Valfs*7), which was not previously described in JBS in the literature.

Evaluation of fecal calprotectin as a marker of gastrointestinal inflammation in rosacea: A case-control study.

A higher incidence of gastrointestinal diseases has been well established in patients with rosacea. However, no screening tool has been introduced for gastrointestinal disease development in rosacea. Fecal calprotectin (FC) is a calcium-binding protein, mainly derived from polymorpho-nuclear cells, such as neutrophils. It has been established as a marker of gastrointestinal inflammation. The aim of the present study was to evaluate FC levels in patients with rosacea without any gastrointestinal diseases. A prospective, case-control study was planned to investigate the relationship between rosacea and gastrointestinal involvement by evaluating FC levels and the Gastrointestinal Symptom Rating Scale (GSRS). A total of 47 patients with rosacea and 39 healthy control subjects were included in the study. The FC levels were statistically significantly higher in rosacea group than in the control group (65.96 ± 58.86 ng/mL vs 31.99 ± 20.12 ng/mL, P = .026, respectively). A statistically significant difference was also observed in GSRS values between the patient and the control groups (30.26 ± 12.48 vs 22.62 ± 7.64, P = .001, respectively). A positive correlation was noted between FC levels and the values of GSRS in the study group (r: 0.354; P = .001) and in the rosacea group (r = 0.392, P = .006). The measurement of FC may be useful in the early detection of gastrointestinal system diseases that may accompany rosacea and may provide a pathway to develop treatment strategies targeting both skin and intestinal mucosa.

Evaluation of epicardial fat thickness and the ankle-brachial index in patients with rosacea: A case-control study.

BACKGROUND: Recent data suggest that rosacea is related to cardiovascular diseases (CVD) due to its inflammatory nature and immune dysregulation. AIM: The aim of this study was to evaluate the values of epicardial fat thickness (EFT) and the ankle-brachial index (ABI) in patients with rosacea, as indicators of subclinical atherosclerosis and CVD risk. METHODS: This prospective case-control study was carried out on 62 participants, including 31 rosacea patients and 31 controls. The values of EFT and ABI were measured in all subjects. RESULTS: The mean thickness of EFT was statistically higher in rosacea patients (0.54 ± 0.12 mm) than in the controls (0.39 ± 0.05 mm) (P < 0.01). ABI was not significantly different between the subjects with rosacea and the comparison group (1.02 ± 0.1 vs 0.98 ± 0.07; P = 0.131). A total of 29% of the rosacea patients had mitral valve insufficiency (MVI), while 3.2% of the control group had MVI (P = 0.006). A mild degree of tricuspid valve insufficiency (TVI) was present in 45.2% of the rosacea patients, while 19.4% of the controls had TVI (P = 0.03). CONCLUSION: Rosacea may be associated with subclinical cardiac dysfunction. EFT measurements in rosacea patients can provide early detection of possible subclinical cardiovascular diseases, which can be life-extending in rosacea. However, further studies with larger sample sizes are required to confirm the present findings.

A rare case of atrophic dermatofibroma with dermoscopic findings.

BACKGROUND: Dermatofibroma, also known as cutaneous benign fibrous histiocytoma, is a common skin tumour. AIM: The aim of this paper was to present a rare variant of dermatofibroma, atrophic dermatofibroma, emphasizing histopathological and dermoscopic features. PATIENTS/METHODS: A case of atrophic dermatofibroma in a female patient with the characteristic histopathological features and newly demonstrated dermoscopic findings is presented. RESULTS: A 54-year-old female presented with a depressed reddish lesion on the back showing histopathological findings of atrophic dermatofibroma. The dermoscopy of the lesion revealed a peripheral pigment network surrounding a pink-reddish colouration around a central whitish scar-like patch with white-yellow scales which was not an exact match with the description in the literature. CONCLUSION: Atrophic dermatofibroma is a rare variant that presents as an atrophic, depressed skin lesion which can easily be overlooked. Atrophic dermatofibroma should be considered in the differential diagnoses of atrophic, depressed lesions on the upper body of middle-aged women. The case of atrophic dermatofibroma presented here showed typical histopathologic findings with atypical dermoscopic features.

H syndrome with a novel homozygous SLC29A3 mutation in two sisters.

H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We report a novel homozygous missense mutation, c.416T > C p.(Leu139Pro), in the SLC29A3 (NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.

Psoriasis affects self-perception of stress negatively: A prospective, case-control study.

Although stress has been considered a contributor in the development and exacerbation of psoriasis, few prospective studies have presented evaluations of the association between stress and psoriasis. The aim of this study was to evaluate the perceived stress, depression, and anxiety profiles in patients with psoriasis. A total of 195 patients with psoriasis and 114 healthy controls were enrolled in the study. The severity of psoriasis was assessed by a single dermatologist using the body surface area and the Physician Global Assessment (PGA). The questionnaires of Dermatology Life Quality Index, the Perceived Stress Scale, the Beck Depression Inventory, and the Beck Anxiety Inventory were obtained. The PSS scores were significantly higher in the psoriasis group than in the control group (25.14 ± 8.67 vs 23.0 ± 6.93, P < .001, respectively). The PSS subscales for perceived self-efficacy (PSE) were significantly higher in patients with psoriasis than in the control group (P = .034). The PSE scores were positively correlated with PGA values (r: .170, P = .017). The present study supports the role of stress in psoriasis. We believe that the identification and management of stress in patients with psoriasis will help improve treatment strategies.

Evaluation of serum FoxO1, mTORC1, IGF-1, IGFBP-3 levels, and metabolic syndrome components in patients with acne vulgaris: A prospective case-control study.

Recently, insulin-like growth factor-1 (IGF-1), forkhead box transcription factor (Fox) O1, and mechanistic target of rapamycin complex 1 (mTORC1) signaling have been introduced as key elements in acne pathogenesis. The aim of this study is to investigate the relationship between serum levels of IGF-1, insulin-like growth factor binding protein-3 (IGFBP-3), FoxO1 and mTORC1, and the components of metabolic syndrome (MS) and AV. This prospective case-control study was carried out on 89 participants, including 49 AV patients and 40 controls. The serum levels of IGF-1, IGFBP-3, insulin, FoxO1, and mTORC1 were measured along with the components of MS. The blood pressure (BP) measures were significantly higher in the AV patients than in the controls (P = .001). The mean high-density lipoprotein cholesterol (HDL-C) levels were significantly lower in the AV patients than in the controls (P = .040). The numbers of accompanying MS components were significantly higher in the AV patients than in the controls (P = .001). The IGFBP-3 levels were significantly higher in the AV patients than in the controls (P = .02). The IGF-1, mTORC1, and FoxO1 levels were higher in the AV patients than in the controls; neither were statistically significant (P = .093, P = .741, and P = .564, respectively). The higher BP and IGFBP-3 levels, the lower HDL-C levels and the common presence of MS components demand caution in terms of new therapeutic strategies and possible associated comorbidities.

Evaluation of sexual functions in female rosacea patients: a prospective, case-control study.

Patients with rosacea have a higher incidence of depression, embarrassment, social phobia, stress, subjective disease perception and decreased quality of life. Sexual dysfunction is one of the main factors contributing to impaired life quality. The aim of this study is to evaluate the presence of sexual dysfunction in women with rosacea. A prospective case-control study was planned to investigate female sexual dysfunction in patients utilizing the Female Sexual Function Index (FSFI). A total of 85 patients with rosacea and 80 healthy control subjects were included in the study. The total FSFI scores were significantly lower in the rosacea group than in the control group (26.6 vs. 27.6, p < 0.001, respectively). According to the total FSFI scores, 49.4% of the rosacea patients had sexual dysfunction compared with 30.0% of the healthy controls (p = 0.011). The total FSFI scores were negatively correlated with the values of the Dermatologic Life Quality Index (DLQI) (r: -0.251, p = 0.001), disease duration (r: -0.416, p < 0.001), age (r: -0.632, p < 0.001) and body mass index (r: -0.329, p < 0.001). Sexual dysfunction in female rosacea patients was demonstrated in this study. We believe that the recognition of sexual dysfunction in women with rosacea will provide improvements in the life quality of such patients.

Demodex folliculorum infestations in common facial dermatoses: acne vulgaris, rosacea, seborrheic dermatitis.

BACKGROUND: Demodex mites are found on the skin of many healthy individuals. Demodex mites in high densities are considered to play a pathogenic role. OBJECTIVE: To investigate the association between Demodex infestation and the three most common facial dermatoses: acne vulgaris, rosacea and seborrheic dermatitis. METHODS: This prospective, observational case-control study included 127 patients (43 with acne vulgaris, 43 with rosacea and 41 with seborrheic dermatitis) and 77 healthy controls. The presence of demodicosis was evaluated by standardized skin surface biopsy in both the patient and control groups. RESULTS: In terms of gender and age, no significant difference was found between the patients and controls (p>0.05). Demodex infestation rates were significantly higher in patients than in controls (p=0.001). Demodex infestation rates were significantly higher in the rosacea group than acne vulgaris and seborrheic dermatitis groups and controls (p=0.001; p=0.024; p=0.001, respectively). Demodex infestation was found to be significantly higher in the acne vulgaris and seborrheic dermatitis groups than in controls (p=0.001 and p=0.001, respectively). No difference was observed between the acne vulgaris and seborrheic dermatitis groups in terms of demodicosis (p=0.294). STUDY LIMITATIONS: Small sample size is a limitation of the study. The lack of an objective scoring system in the diagnosis of Demodex infestation is another limitation. CONCLUSION: The findings of the present study emphasize that acne vulgaris, rosacea and seborrheic dermatitis are significantly associated with Demodex infestation. Standardized skin surface biopsy is a practical tool in the determination of Demodex infestation.

Evaluation of monocyte to high-density lipoprotein ratio, lymphocytes, monocytes, and platelets in psoriasis,

Abstract Background: Psoriasis is a chronic immune-mediated inflammatory skin disease that is associated with cardiovascular comorbidities. Objectives: The objective of this retrospective study is to assess the C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio as inflammatory markers in patients with psoriasis and to search for a relationship between these parameters and psoriasis severity, as defined by the psoriasis area and severity index. Methods: There were 94 patients with psoriasis and 118 healthy controls enrolled in the study. The C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio values of two groups were retrospectively evaluated. Results: Statistically significant differences were observed in terms of C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio and monocyte-to-lymphocyte ratio between the patient and control groups (p = 0.001, p = 0.003, p = 0.038, and p = 0.007, respectively). Positive correlations were found between the psoriasis area and severity index and the values of C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio (r: 0.381; p < 0.01, r: 0.203; p < 0.05, r: 0.268; p < 0.01, r: 0.374; p < 0.01, r: 0.294; p < 0.01, respectively). Study limitations: The small sample size and the retrospective design of the study are limitations. Conclusion: Elevated C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio were significantly associated with psoriasis. A positive correlation between C-reactive protein and monocyte-to-high-density-lipoprotein ratio leads to the suggestion that monocyte-to-high-density-lipoprotein ratio might be a reliable parameter in psoriasis during the follow-up. The relationship between the diasease and inflammatory parameters might provide early detection of cardiovascular morbidities in psoriasis patients.

Evaluation of monocyte to high-density lipoprotein ratio, lymphocytes, monocytes, and platelets in psoriasis.

BACKGROUND: Psoriasis is a chronic immune-mediated inflammatory skin disease that is associated with cardiovascular comorbidities. OBJECTIVES: The objective of this retrospective study is to assess the C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio as inflammatory markers in patients with psoriasis and to search for a relationship between these parameters and psoriasis severity, as defined by the psoriasis area and severity index. METHODS: There were 94 patients with psoriasis and 118 healthy controls enrolled in the study. The C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio values of two groups were retrospectively evaluated. RESULTS: Statistically significant differences were observed in terms of C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio and monocyte-to-lymphocyte ratio between the patient and control groups (p=0.001, p=0.003, p=0.038, and p=0.007, respectively). Positive correlations were found between the psoriasis area and severity index and the values of C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio (r: 0.381; p<0.01, r: 0.203; p<0.05, r: 0.268; p<0.01, r: 0.374; p<0.01, r: 0.294; p<0.01, respectively). STUDY LIMITATIONS: The small sample size and the retrospective design of the study are limitations. CONCLUSION: Elevated C-reactive protein, monocyte-to-high-density-lipoprotein ratio, neutrophil-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio were significantly associated with psoriasis. A positive correlation between C-reactive protein and monocyte-to-high-density-lipoprotein ratio leads to the suggestion that monocyte-to-high-density-lipoprotein ratio might be a reliable parameter in psoriasis during the follow-up. The relationship between the diasease and inflammatory parameters might provide early detection of cardiovascular morbidities in psoriasis patients.

Successful treatment of late-onset nevus comedonicus with Er:YAG laser.

Nevus comedonicus, a rare congenital hamartoma of the pilosebaceous unit, is characterized by keratotic plugging. It usually occurs after birth and during early childhood. It rarely appears in adulthood. Despite the benign nature of the condition, it usually requires treatment due to aesthetic reasons. Several treatments have been reported in nevus comedonicus, most of them resulting with recurrences. Here, we report a case of nevus comedonicus with adult onset, successfully treated with erbium-doped yttrium aluminum garnet (Er:YAG) laser therapy.

Efficacy of high-intensity focused ultrasound in facial and neck rejuvenation.

BACKGROUND: High-intensity focused ultrasound (HIFU) has recently been introduced in the treatment of facial wrinkles and laxity. OBJECTIVE: The purpose of the study was to evaluate efficacy and safety of HIFU in facial and neck rejuvenation. METHODS: High-intensity focused ultrasound treatment was performed on face and neck by using two different probes with focal depth of 3 mm and 4.5 mm. Two independent, blinded clinicians evaluated the clinical improvement at 3 months after treatment. The patients also scored their satisfaction with the treatment. Adverse effects were assessed up to 3 months post-treatment. RESULTS: Seventy-five patients (73 female, 2 male) with Fitzpatrick skin phototypes 2-4 were enrolled in the study. After treatment, improvement in nasolabial, jawline, submental, and neck areas was separately evaluated. The rate of improvement in each area was more than 80% according to the physicians' assessment, while patients' satisfaction degree in each area was over 78%. Most common adverse effect was pain, reported in 25.3% of the patients during the procedure while transient erythema was reported in 6.7%. Both resolved spontaneously after the procedure. Only one patient complained development of numbness on right mandibular region which resolved spontaneously within 10 days. CONCLUSION: High-intensity focused ultrasound can be an effective noninvasive treatment modality in facial and neck rejuvenation with an acceptable safety profile.

Serum zinc levels in seborrheic dermatitis: a case-control study

Background/aim: Malassezia colonization, sebaceous gland activity, hormones, immune system defects, environmental factors, and the interactions between these factors are thought to contribute to the pathogenesis of seborrheic dermatitis (SD). Zinc, an essential element, is involved in many biological processes including the ones that contribute to the development of SD. The aim of this study is to evaluate serum zinc levels in patients with SD. Materials and methods: Forty-three patients with SD and 41 healthy controls were enrolled in the study. Disease activity was assessed by the Seborrheic Dermatitis Area and Severity Index by a single dermatologist. Serum zinc levels of all subjects were evaluated. Results: Statistically significantly lower serum zinc levels were noted in SD patients than in the control group (79.16 ± 12.17 vs. 84.88 ± 13.59, respectively; P = 0.045). Conclusion: The results of the study demonstrated that patients who had SD had lower levels of serum zinc levels than healthy subjects.

A case of fractional microneedling radiofrequency induced rosacea.

Fractional microneedling radiofrequency (FMR) has been reported to improve cutaneous wrinkles due to its effects of inducing neoelastogenesis and neocollagenosis. Furthermore, FMR has shown to be effective in acne scars, acne lesions, hyperhidrosis, acne-related postinflammatory erythema and recently in rosacea. FMR treatment has been suggested to improve rosacea by reducing inflammation and abnormal vessel proliferation. Here we present a 61-year-old female who developed rosacea symptoms after the treatment of FMR for cutaneous wrinkles. Since the case shows conflictory findings with the previous data, it was found worthy presentation.

The Effects of Systemic Psoriasis Therapies on the C-Reactive Protein and the Neutrophil-Lymphocyte Ratio.

BACKGROUND: Currently, no generally accepted laboratory marker for monitorizing the disease activity and therapy response of psoriasis is known. OBJECTIVE: The aim of the study is to evaluate the effects of systemic therapies on C-reactive protein (CRP) and the neutrophil-lymphocyte ratio (NLR) in psoriasis. METHODS: One hundred patients with psoriasis treated with narrow band ultraviolet B, acitretin, cyclosporine, methotrexate, adalimumab, etanercept, and ustekinumab were prospectively evaluated. At baseline and at week 12, CRP, NLR, and Psoriasis Area and Severity Index (PASI) were evaluated. RESULTS: A statistically significant decrease was observed in PASI scores, CRP, and NLR values from the baseline to the 12-week visit (p=0.001, p=0.001, p=0.001, respectively). The reduction in PASI scores and NLR values was positively correlated (r=0.460, p=0.001). The comparisons between treatment groups revealed that the median decrease in NLR values was statistically higher in the adalimumab group than in the methotrexate group (p=0.007). And the median decrease in PASI scores was significantly higher in the adalimumab group compared with the methotrexate and acitretin therapy group (p=0.007, p=0.042, respectively). CONCLUSION: In the present study, systemic therapy of psoriasis was demonstrated to decrease the levels of CRP and NLR, which are known to be indicators of systemic inflammation and cardiovascular comorbidities.

Progress of an isolated collagenoma during pregnancy.

Collagenomas are connective tissue naevi composed predominantly of collagen. Isolated collagenomas are usually localized to a single body region, acquired, and of rare occurrence. We describe a patient with an isolated collagenoma that showed an increase in size during pregnancy and regressed afterwards.