Novel genetic variants of HLA gene associated with Thai Behcet's disease (BD) patients using next generation sequencing technology.

Behçet's disease (BD) manifests as an autoimmune disorder featuring recurrent ulcers and multi-organ involvement, influenced by genetic factors associated with both HLA and non-HLA genes, including TNF-α and ERAP1. The study investigated the susceptible alleles of both Class I and II molecules of the HLA gene in 56 Thai BD patients and 192 healthy controls through next-generation sequencing using a PacBio kit. The study assessed 56 BD patients, primarily females (58.9%), revealing diverse manifestations including ocular (41.1%), vascular (35.7%), skin (55.4%), CNS (5.4%), and GI system (10.7%) involvement. This study found associations between BD and HLA-A*26:01:01 (OR 3.285, 95% CI 1.135-9.504, P-value 0.028), HLA-B*39:01:01 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-B*51:01:01 (OR 3.033, 95% CI 1.135-8.103, P-value 0.027), HLA-B*51:01:02 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-C*14:02:01 (OR 3.485, 95% CI 1.339-9.065, P-value 0.01), HLA-DRB1*14:54:01 (OR 1.924, 95% CI 1.051-3.522, P-value 0.034), and HLA-DQB1*05:03:01 (OR 3.00, 95% CI 1.323-6.798, P-value 0.008). However, after Bonferroni correction none of these alleles were found to be associated with BD. In haplotype analysis, we found a strong linkage disequilibrium in HLA-B*51:01:01, HLA-C*14:02:01 (P-value 0.0, Pc-value 0.02). Regarding the phenotype, a significant association was found between HLA-DRB1*14:54:01 (OR 11.67, 95% CI 2.86-47.57, P-value 0.001) and BD with ocular involvement, apart from this, no distinct phenotype-HLA association was documented. In summary, our study identifies specific HLA associations in BD. Although limited by a small sample size, we acknowledge the need for further investigation into HLA relationships with CNS, GI, and neurological phenotypes in the Thai population.

Trichoscopic Signs in Dermatomyositis, Systemic Lupus Erythematosus, and Systemic Sclerosis: A Comparative Study of 150 Patients.

BACKGROUND: Hair and scalp involvement is prevalent in connective tissue diseases (CTDs). Trichoscopic features may provide a diagnostic implementation and enable differentiation among CTDs; however, a direct comparison of these signs among CTD patients is lacking. OBJECTIVES: To compare trichoscopic findings in dermatomyositis (DM), systemic lupus erythematosus (SLE), and systemic sclerosis (SSc) as well as determine their distinctive features and associations with disease activity. METHODS: Trichoscopic photographs were taken from DM, SLE, and SSc patients and further evaluated for hair shaft and scalp surface abnormalities. Data regarding patients' clinical manifestations, laboratory results, and disease activity were analyzed. RESULTS: One hundred fifty participants, consisting of 30 DM, 60 SLE, and 60 SSc patients, were included. Perifollicular red-brown pigmentation, brown scattered pigmentation, and white patches were exclusive findings in DM, SLE, and SSc, respectively (p < 0.001). A multinomial logistic regression analysis revealed that DM demonstrated higher odds for having microaneurysmal blood vessels than SLE and SSc (odds ratio [OR] = 22.22, 95% confidence interval [CI] = 1.73-285.13, p = 0.017, and OR = 15.34, 95% CI = 1.36-177.59, p = 0.029, respectively). Polymorphic vessels forming a telangiectatic network suggested SSc over SLE (OR = 12.83, 95% CI = 1.35-121.98, p = 0.026), while avascular areas were more pronounced in SSc than DM and SLE (OR = 43.24, 95% CI = 5.17-361.67, p = 0.001, and OR = 0.03, 95% CI = 0.01-0.24, p = 0.001, respectively). In a quantile regression analysis, perifollicular red-brown pigmentation, reduction in hair diameter, and the absence of thin arborizing vessels were linked to higher disease activity in DM, SLE, and SSc, respectively (all p < 0.05). CONCLUSIONS: Trichoscopy is a valuable tool possessing diagnostic and prognostic values for CTDs. Specific trichoscopic features allow adequate distinction between DM, SLE, and SSc and may help identify active disease.

Circle Hairs in a Patient with Multiple Myeloma.

Circle hair is a rare body-hair disorder of unknown etiology, typically characterized by perfectly or nearly perfectly coiled hair located below the cornified layer of the skin. Its main histopathological features are dilated hair-follicle infundibula and entrapped hair shafts. After its first description in 1963, there have only been a small number of reported cases, and its pathophysiology remains unclear. Herein, we report a case of an 80-year-old woman with skin lesions and abnormal hairs on both legs. We also propose a possible mechanism of her circle hairs: it may have occurred as an effect of her acquired ichthyosis secondary to her underlying multiple myeloma. There is no specific treatment for circle hairs, and reassurance that it is a harmless condition is sufficient. We prescribed a topical humectant and keratolytic agent to moisten the skin and lessen the hair entrapment, which resulted in clinical improvement. As the pathogenesis of the disease is unknown, further studies are warranted.

Clinicopathological Characteristics Related to Etiologies of Erythema Nodosum: A 10-Year Retrospective Study.

BACKGROUND: Erythema nodosum (EN) is the most common panniculitis associated with a wide variety of conditions. Updated studies regarding the clinicopathological manifestations related to etiologies of EN and its prognosis are limited. OBJECTIVE: We aimed to explore the clinicopathological features in relation to the etiologies of EN and determine characteristics of disease recurrence and its predictive factors. METHODS: A total of 169 patients with biopsy-proven EN or septal panniculitis from January 2008 to September 2018 were retrospectively reviewed. Patients were classified as either idiopathic or secondary EN. Patients' general information, clinical manifestations, investigations, and recurrence of EN were recorded. The details on histopathological findings were reviewed by a blinded dermatopathologist. RESULTS: The mean age at diagnosis of EN was 40.6 ± 17.3 years. The majority of patients (85.2%) were female. Idiopathic EN was found in 62.7% of patients. Tuberculosis (23.8%) and drugs (23.8%) were the leading causes of secondary EN. In univariate logistic regression analysis, lesions on upper extremities (p = 0.018), fever (p = 0.003), clinical lymphadenopathy (p < 0.001) favored secondary EN. Histopathologically, the presence of focal peripheral lobular panniculitis with eosinophils was linked to idiopathic EN (p = 0.03). However, multivariable logistic regression analysis failed to demonstrate factors associated with secondary EN. Recurrence was found in 46.6% of patients with no identifiable predictive factors. CONCLUSION: Although no clinical risk factors were associated with the etiology of EN, the histopathological presence of eosinophils in focal peripheral lobular panniculitis suggested idiopathic EN.

Nailfold Capillaroscopy With USB Digital Microscopy in Connective Tissue Diseases: A Comparative Study of 245 Patients and Healthy Controls.

Background: Nailfold capillaroscopy (NFC) is a valuable tool to detect microcirculation abnormalities in connective tissue diseases (CTDs). However, whether the universal serial bus (USB) digital microscopy used as onychoscopy is as effective as the videocapillaroscopy in determining the diagnostic and prognostic values of CTDs remains to be determined. Objective: This study aims to investigate NFC features of systemic lupus erythematosus (SLE), dermatomyositis (DM), and systemic sclerosis (SSc) patients and compare with normal controls as well as examine which feature could differentiate among CTDs. Furthermore, we aim to explore different capillaroscopic abnormalities and their association with disease activity. Methods: Nailfold images were taken from patients and healthy controls using a USB digital microscopy. Patterns on the capillary morphology, diameter, architecture, and density were recorded and compared. We further determined the NFC findings in SLE, DM, and SSc and corresponded to their respective disease activity scoring system. Results: A total of 245 participants, consisting of 54 SLE, 32 DM, and 51 SSc patients, as well as 108 controls, were enrolled. All capillaroscopic features, except for tortuous capillaries, were significantly more common in CTDs than healthy control (all p < 0.05). A multinomial logistic regression analysis revealed that bushy capillaries had significantly higher odds for both SLE and DM than SSc (OR: 4.10, 95% confidence interval (CI): 1.71-9.81, p = 0.002 and OR: 7.82, 95% CI, 2.86-21.38, p < 0.001, respectively). Elongated capillaries demonstrated significant odds for SLE compared with SSc (OR: 3.35, 95% CI: 1.005-11.20, p = 0.049), while prominent subpapillary plexus showed greater odds for SLE compared with both DM and SSc (OR: 2.75, 95% CI: 1.07-7.02, p = 0.03 and OR: 5.78, 95% CI: 2.29-14.58, p < 0.001, respectively). The presence of hemorrhage, enlarged capillaries, and the low-density index had significantly higher odds in favor of SSc than SLE. Bushy capillaries were the only pattern with a strong association for DM over SSc. The presence of enlarged capillaries indicated higher SLE severity, but no specific finding was related to DM or SSc skin scores. Conclusions: Nailfold capillaroscopic examination using a digital microscope is a valuable method for the diagnosis of SLE, DM, and SSc. Several morphologic patterns can help differentiate among CTDs; however, the prognostic significance of this method requires further investigations.

Dipeptidyl peptidase-4 inhibitor-related bullous pemphigoid: A comparative study of 100 patients with bullous pemphigoid and diabetes mellitus.

Dipeptidyl peptidase-4 inhibitor (DPP4i)-associated bullous pemphigoid (BP) has been emerging but whether it has genotype or phenotype differences from idiopathic BP (IBP) remains to be determined. We aimed to compare clinical characteristics, genetic susceptibility, laboratory features, disease activity, and outcomes between DPP4i-associated BP (DBP) and IBP occurring among patients with diabetes mellitus type 2 (T2DM). Medical records of patients diagnosed with BP and T2DM from January 2009 to December 2019 were retrospectively reviewed, and patients were categorized into DBP or IBP groups. Of 100 patients, 23 had DBP and 77 had IBP. There was no difference in the Bullous Pemphigoid Disease Activity Index score between the two groups; however, the score for urticaria and erythema was less in DBP (p < 0.001), indicating a non-inflammatory phenotype. The HLA-DQB1*03:01 allele was more commonly present in the DBP than IBP cases (odds ratio = 5.33 [95% confidence interval, 1.11-28.59], p = 0.016). The absolute eosinophil count was significantly lower in the DBP group (p = 0.002). Likewise, eosinophilic spongiosis was found less frequently in DBP cases (p = 0.005). Patients in the DBP group had a significantly higher percentage of complete remission on therapy compared to the IBP counterpart (p = 0.026) after DPP4i discontinuation. Moreover, the mean maximum dosage of prednisolone administrated per patient was significantly lower in drug-related cases (p = 0.012). In conclusion, our cohort in Thai patients with T2DM confirms the differences between phenotype and genotype characteristics of DBP and IBP. We emphasize the importance of drug discontinuation in all DPP4i-related cases because doing so may lead to a better disease outcome.

Cutaneous and Extracutaneous Manifestations of Behçet's Disease Linked to Its Disease Activity and Prognosis.

BACKGROUND: Behçet's disease is a potentially fatal vasculitis disorder involving vessels in both the arterial and venous systems. Cutaneous manifestation is the most common sign in Behçet's disease, but its relation to disease activity and prognosis is lacking. OBJECTIVE: Our study aims to determine the relationship between cutaneous, extracutaneous manifestations with Behçet's disease activity, morbidity, and mortality. MATERIALS AND METHODS: Patients diagnosed with Behçet's disease were identified by using the 1990 International Study Group for Behçet's disease criteria and/or the 2014 international criteria for Behçet's disease. Data regarding patients' clinical manifestations, laboratory results, disease activity, and prognosis were retrieved and analyzed. Disease activity was evaluated using the 2006 Behçet's disease current activity form (BDCAF). RESULTS: Of 119 patients, the mean age at diagnosis was 35.7 ± 10.7 years and 60% were female. Median disease duration was 96 months (IQR 48-168). Minor oral ulcer at the buccal mucosa was associated with lower median BDCAF score (p = 0.003), whereas minor oral ulcer at the tonsil was related to higher BDCAF score (p = 0.024). Male gender was associated with higher cumulative dose of corticosteroids (p = 0.003) and hospitalization (OR = 2.89 (95% CI [1.10, 7.57]), p = 0.031). Ocular manifestations were related to higher dose of corticosteroids (p = 0.002) and morbidity (OR = 4.39 (95% CI [1.57, 12.29]), p = 0.005). CONCLUSION: Our study suggests that different locations of minor oral ulcers help predict disease activity. Male gender and the presence of ocular manifestations resulted in less favorable outcomes for Behçet's disease.

Comparison of fractional neodymium-doped yttrium aluminum garnet (Nd:YAG) 1064-nm picosecond laser and fractional 1550-nm erbium fiber laser in facial acne scar treatment.

To compare the safety and efficacy of fractional neodymium-doped yttrium aluminum garnet (Nd:YAG) 1064-nm picosecond laser and fractional 1550-nm erbium fiber laser in acne scar treatment and to assess the adverse effects and complications of the two devices. Thirty patients with cosmetically similar acne scars on both sides of the faces were enrolled and treated four times at 4-week intervals. Each side of the face was treated with either fractional 1064-nm Nd:YAG picosecond laser or fractional 1550-nm erbium fiber laser. Efficacy was evaluated using digital photography taken at baseline and 5 months by a blinded dermatologist using the ECCA grading scale (échelle d'évaluation clinique des cicatrices d'acné). Patient overall satisfaction and self-rated improvement scores were recorded at baseline and 5 months. Adverse effects were recorded at every visit. Twenty-seven patients completed the study. Both devices demonstrated significant median ECCA score improvement from baseline (P < 0.001). However, there was no significant difference between the two in terms of median ECCA score improvement, patients' perception of scar improvement, and overall satisfaction. Considering the adverse effects, more pinpoint bleeding was significantly observed with the picosecond laser (P = 0.002), whereas more pain was noted with the erbium laser (P < 0.001). Both fractional 1064-nm Nd:YAG picosecond laser and fractional 1550-nm erbium fiber laser are safe and effective in the treatment of acne scars. Costs should be taken into consideration when deciding on which device to use to maximize treatment outcomes.

The use of topical minoxidil to accelerate nail growth: a pilot study.

Linear nail growth rate is affected by various conditions, one of which is the level of blood flow. Our supposition was that topical minoxidil, which has vasodilatory properties, can increase the rate of nail growth. The aim of this study was to determine the impact of topical minoxidil on nail growth. A 5% topical minoxidil solution was applied twice daily to the fingernails of 32 participants. Two groups of 16 participants were randomly chosen. In one group, the applications were made to the right index and left ring fingernails, and, in the other, the left index and right ring fingernails. During each visit (weekly during the first month and every 2 weeks during the second month), the nail length of six fingernails (index, middle, and ring of both hands) was measured using a digital caliper. Beginning in the first week, the mean nail length of the treated nails was greater than that of nails in the untreated group with statistical significance. There were no systemic or cutaneous side effects. During the first month, the mean growth of the treated nails was 4.27 mm/month compared with 3.91 mm/month in the untreated nails (P = 0.003). These findings suggest that a 5% concentration of topical minoxidil can stimulate nail growth with increased growth beginning in the first week of application. The results may have important implications for the treatment of nail disorders; however, a comparable study involving participants with nail disorders is highly recommended.