Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

BACKGROUND: PRDM12 polyalanine tract expansions cause two different disorders: midfacial toddler excoriation syndrome (MiTES; itch with normal pain sensation associated with 18 homozygous alanines (18A); and congenital insensitivity to pain (CIP) with normal itch associated with 19 homozygous alanines (19A). Knowledge of the phenotype, genotype and disease mechanism of MiTES is incomplete. Why 18A vs. 19A PRDM12 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes. OBJECTIVES: To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES. METHODS: Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM12) containing 12 alanines (12A; normal), 18A (MiTES) and 19A (CIP), we examined PRDM12 aggregation and subcellular localization by image-separation confocal microscopy and subcellular fractionation Western blotting. RESULTS: MiTES presents in the first year of life; in all cases the condition regresses over the first decade, leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12 CIP are rarely found. The genotype-phenotype study of the PRDM12 polyalanine tract shows that having 7-15 alanines is normal; 16-18 alanines is associated with MiTES; 19 alanines leads to CIP; and no clinically atypical cases of MiTES had a polyalanine tract expansion. PRDM12 aggregation and subcellular localization differed significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein-aggregation disease. CONCLUSIONS: We provide diagnostic criteria for MiTES and improved longitudinal data. MiTES and CIP are distinct phenotypes, despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells. We hypothesize that the developmental environment of the trigeminal ganglion is unique and critically sensitive to pre- and postnatal levels of PRDM12.

Midfacial toddler excoriation syndrome (MiTES) causes facial itching and scratching in babies during their first year of life. MiTES tends to improve over the time period of approximately 10 years, but it can leave scars. Congenital insensitivity to pain (CIP) is a condition where a person cannot feel pain and is present from birth. This study looked at two conditions: MiTES and CIP. We specifically investigated changes in a gene called PRDM12, focusing on a part of the gene called the polyalanine tract ­ a sequence of many alanines (alanine is a type of amino acid). We discovered that the normal range for this sequence is between 7 and 15 alanines. If there are 16 to 18 alanines, it is associated with MiTES and causes the PRDM12 protein to clump together inside the cell. However, if there are 19 alanines, it leads to CIP, and the PRDM12 protein clumps together and moves to the cytoplasm, where it should not be. We found new evidence to suggest that MiTES is a disease where proteins clump together. Overall, our study findings show that despite there only being a small change in the same gene, MiTES and CIP are very different conditions.

Phototherapy for vitiligo: A narrative review on the clinical and molecular aspects, and recent literature.

BACKGROUND: Vitiligo is characterized by depigmented patches resulting from loss of melanocytes. Phototherapy has emerged as a prominent treatment option for vitiligo, utilizing various light modalities to induce disease stability and repigmentation. AIMS AND METHODS: This narrative review aims to explore the clinical applications and molecular mechanisms of phototherapy in vitiligo. RESULTS AND DISCUSSION: The review evaluates existing literature on phototherapy for vitiligo, analyzing studies on hospital-based and home-based phototherapy, as well as outcomes related to stabilization and repigmentation. Narrowband ultra-violet B, that is, NBUVB remains the most commonly employed, studied and effective phototherapy modality for vitiligo. Special attention is given to assessing different types of lamps, dosimetry, published guidelines, and the utilization of targeted phototherapy modalities. Additionally, the integration of phototherapy with other treatment modalities, including its use as a depigmenting therapy in generalized/universal vitiligo, is discussed. Screening for anti-nuclear antibodies and tailoring approaches for non-photo-adapters are also examined. CONCLUSION: In conclusion, this review provides a comprehensive overview of phototherapy for vitiligo treatment. It underscores the evolving landscape of phototherapy and offers insights into optimizing therapeutic outcomes and addressing the challenges ahead. By integrating clinical evidence with molecular understanding, phototherapy emerges as a valuable therapeutic option for managing vitiligo, with potential for further advancements in the field.

Whole-body and targeted narrowband ultraviolet B phototherapy effectively stabilize acral vitiligo with negligible repigmentation beyond wrists and ankles: Results from a split-body randomized controlled trial.

BACKGROUND: Narrowband ultraviolet B (NB-UVB) phototherapy promotes stability and repigmentation in vitiligo. No studies have compared targeted NB-UVB with whole-body NB-UVB in treatment of acral vitiligo. OBJECTIVES: This randomized split-body study compared whole-body NB-UVB with targeted NB-UVB in inducing stability and repigmentation in acral vitiligo. METHODS: Thirty-two patients with bilaterally symmetrical acral vitiligo lesions (distal to elbows and knees) were recruited. Patients received whole-body NB-UVB treatment, with one hand and one foot shielded until elbow and knee, followed by targeted NB-UVB treatment on the shielded side. Patients were assessed at 4-week intervals for 24 weeks using Vitiligo Disease Activity (VIDA) score, Vitiligo Skin Activity Score (VSAS), Vitiligo Area Scoring Index (determined through fingertip method, using the method to calculate facial-VASI) and degree of repigmentation. RESULTS: After 12 weeks, 87.5% of patients achieved a VIDA score of 3, with none having active disease at 24 weeks. Over 50% repigmentation was observed in 42.2% and 37.5% of limbs in whole-body and targeted groups, respectively (p = .95). No improvement in F-VASI scores of hands and feet (distal to wrist and ankles) was noted with either modality over the 24-week period. CONCLUSION: Our study showed comparable repigmentation rates between whole-body and targeted NB-UVB groups. Limited effectiveness of phototherapy in repigmentation of hands and feet underscores an important therapeutic gap.

Delay in diagnosis is the most important proximate reason for mortality in hereditary angio-oedema: our experience at Chandigarh, India.

BACKGROUND: Hereditary angio-oedema (HAE) is a rare autosomal dominant disorder characterized clinically by recurrent episodes of nonpruritic subcutaneous and/or submucosal oedema. Laryngeal oedema is the commonest cause of mortality in patients with HAE. Prior to the availability of first-line treatment options for the management of HAE, mortality was as high as 30%. Mortality has significantly declined in countries where first-line treatment options are available and patients can access these therapies. There is a paucity of literature on the outcomes of patients with HAE in developing countries where availability of and access to first-line treatment options are still a challenge. OBJECTIVES: To report our experience on mortality in patients with HAE and to report factors associated with the death of these patients. METHODS: We carried out a record review of all patients diagnosed with HAE between January 1996 and August 2022. Families with HAE who had reported the death of at least one family member/relative from laryngeal oedema were studied in detail. RESULTS: Of the 65 families (170 patients) registered in the clinic, 16 families reported the death of at least one family member/relative from laryngeal oedema (total of 36 deaths). Of these 16 families, 14 reported that 1 or more family members had experienced at least 1 attack of laryngeal oedema. One patient died during follow-up when she was taking long-term prophylaxis with stanozolol and tranexamic acid, while the remaining 35 patients were not diagnosed with HAE at the time of their death. At the time of death of all 36 patients, at least 1 other family member had symptoms suggestive of HAE, but the diagnosis was not established for the family. CONCLUSIONS: To our knowledge, this is the largest single-centre cohort of patients with HAE in India reporting mortality data and factors associated with death in these families. The delay in diagnosis is the most important reason for mortality.

A randomized prospective study to assess the role of topical tacrolimus as preventive therapy in unstable acral vitiligo.

BACKGROUND: Acral vitiligo is a significantly distressing condition and tends to be treatment-resistant. The occurrence of new lesions on acral areas further causes greater psychological trauma. Topical tacrolimus has been widely used in the management of vitiligo and its role in preventing flares in other dermatoses such as atopic dermatitis has been well documented. OBJECTIVES: To assess the role of topical tacrolimus as preventive therapy in unstable acral vitiligo. MATERIALS AND METHODS: In this single-centre randomized prospective study, 60 patients aged 16-60 years having unstable acral vitiligo with symmetrical lesions were enrolled and randomized (1:1) into two groups. Patients in group A were instructed to apply topical tacrolimus 0.1% ointment on both vitiliginous and normal skin while patients in group B were instructed to apply topical tacrolimus 0.1% ointment only on vitiliginous skin for 6 months. Only the distal hand till the wrist joint was chosen for observation. Vitiliginous patches were assessed monthly for 6 months for a change in the number of lesions and total area involved, extension of preexisting lesions and adverse effects if any. RESULTS: A reduction in the number of lesions was observed in both groups. The decrease in the number of lesions in group A was 5.6% as compared to 2.3% in group B (p-0.001). The decrease in depigmented area in group A was 10.5% as compared to 4.6% in group B (p-0.048). Treatment failure was seen in 11 out of 60 (18.3%) patients. CONCLUSION: Tacrolimus 0.1% ointment application showed effectiveness in preventing the appearance of new lesions in unstable acral vitiligo and hastening the repigmentation when applied on both lesional and perilesional skin in vitiligo.

Correlating clinical and laboratory diagnostic modalities in the diagnosis of epidermolysis bullosa in a resource-poor setting.

BACKGROUND: Mutational analysis and immunofluorescence antigen mapping (IFM) are recommended as the laboratory tools of choice for diagnosing EB. In the past, transmission electron microscopy (TEM) was considered the gold standard, and more recently, clinical diagnostic matrix (CDM) has shown good concordance with next-generation sequencing (NGS). METHODS: In this prospective diagnostic study, a skin biopsy was taken for TEM and IFM in consecutive patients with EB (aged >6 months) diagnosed clinically with CDM. Wherever possible, mutational analysis was done using targeted NGS. RESULTS: Of the 80 patients diagnosed with CDM, skin biopsy specimens of 42 patients were assessed using TEM, and of 59 patients using IFM. NGS was done in 39 patients. Taking NGS as the gold standard for diagnosing EB (n = 39 patients), the concordance with CDM, TEM, and IFM were estimated at 84.6% (33/39), 78.5% (11/14), and 76% (19/25) respectively. CDM showed a substantial agreement with NGS (k = 0.69, p < 0.001). CONCLUSIONS: In comparison to NGS, the highest concordance was seen with CDM followed by TEM and IFM in diagnosing major subtypes of EB.

Clinical and laboratory parameters associated with treatment response to third-line therapies in chronic refractory urticaria: A real world study from northern India.

Current guidelines recommend omalizumab and cyclosporine for management of chronic spontaneous urticaria (CSU) refractory to anti-histamines. Identification of clinico-epidemiological characteristics predictive of treatment response with both modalities which will aid therapy selection. Clinical records of CSU patients receiving omalizumab and cyclosporine from May 1, 2016 to December 31, 2020 were reviewed retrospectively. Patients with a minimum follow-up duration of 4 months were included in the analysis. Treatment response was defined as >90% recorded reduction in Urticaria Activity Score-7 (UAS7) as compared to baseline 4 months after treatment initiation. Records of 1364 CSU patients were reviewed. A total of 56 patients who received omalizumab and 132 patients who received cyclosporine fulfilled the inclusion criteria. Treatment response was observed in 46 out of 56 (82.1%) patients in the omalizumab cohort and 106 out of 132 (80.3%) patients in the cyclosporine cohort (P = 0.76). Factors significantly associated with response to omalizumab included high baseline serum IgE levels (P = 0.028), lesser disease duration (P = 0.001), and absence of prior immunosuppressant use (P = 0.024). Factors predictive of cyclosporine response included high baseline UAS7 (P = 0.048), low baseline IgE levels (P = 0.047), and normal baseline D-dimer levels (P = 0.027). Concomitant inducible urticaria, atopy, and angioedema were associated with non-response in both groups (P ≤ 0.05). Incidence of adverse events was slightly higher in cyclosporine group (28.7%) as compared to omalizumab group (19.5%, P = 0.19). This study highlights several clinical parameters and laboratory markers that may be utilized to predict treatment response and aid in prognostication of patients with CSU.

Effectiveness of topical pilocarpine in refractory oral lesions of pemphigus vulgaris: Results from an open-label, prospective, pilot study.

BACKGROUND: The literature suggests a beneficial role of cholinomimetic agents in the treatment of pemphigus. In the present open-label, prospective pilot study, we assessed the effectiveness of topical pilocarpine 2% eye-drops in the treatment of recalcitrant oral lesions of pemphigus. METHODS: Twenty patients with recalcitrant oral lesions of pemphigus were recruited and instructed to apply pilocarpine 2% eye-drops twice daily on the resistant oral lesions for 180 days. The systemic immunosuppression at the time of inclusion in the present study was continued at the same dose throughout the study duration. The photographs of the lesions were obtained at baseline and an interval of 30 days. The area representing the erosion was measured on clinical photographs using the imageJ software (National Institute of Health). Visual analogue scale and oral health impact profile-14 questionnaire were used to assess the degree of subjective improvement. Anti-desmoglein 1 and 3, and anti-acetylcholine M3 receptor antibodies were measured both in serum and saliva; at baseline and at the completion of the study. RESULTS: Twenty patients were recruited in this pilot study. Mean total duration of illness was 3.4±1.3 years. The mean area of the erosions decreased significantly from 142.01±130.05 mm2 to 44.38±67.78 mm2 at study completion at 180 days (p 0.002, paired t-test). Repeated measures ANOVA demonstrated a significant trend in the reduction of the mean area of the erosions from baseline to day 180 (p 0.002). Mean VAS decreased significantly from 7.2±1.0 at baseline to 5.1±1.9 at day 180 (paired t-test, p 0.001). Mean OHIP-14 decreased significantly from 10.1±2.7 at baseline to 8.4±2.9 at day 180. No significant difference was observed between pre- and post-treatment levels of anti-desmoglein 1, anti-desmoglein 3, and anti-acetylcholine M3 receptor antibodies, in both serum and saliva. LIMITATIONS: The depth component in the erosions could not be measured. An orabase formulation could be used in future studies to facilitate retention of the medication at the site of application. CONCLUSION: Topical pilocarpine holds potential for the treatment of recalcitrant oral lesions of pemphigus vulgaris. It probably brings about re-epithelialization without imparting any immunomodulatory activity. This article is protected by copyright. All rights reserved.

Quality of life assessment in childhood vitiligo in a tertiary care center in India.

The impact of vitiligo on quality of life (QOL) of children is not well studied. In this cross-sectional study, QOL in the form of Children's Dermatology Life Quality Index (CDLQI) was assessed in 114 children with vitiligo over a year. The mean CDLQI was 2.72 ± 3.35. There was a significant correlation of body surface area involved with the DLQI and the impairment was higher in older children. The psychosocial burden of vitiligo in children cannot be ignored and must be tackled early on in order to prevent an ever lasting impact on young minds.

Effects of metformin on experimentally induced acne on rabbit ear.

Evidence for the effectiveness of metformin in the treatment of acne is limited. To assess its efficacy, comedones were experimentally induced in young New Zealand rabbit ear using Isopropyl Myristate (IM) followed by metformin treatment (30 mg/kg bodyweight) for 60 days with continued IM application. In another group, to check whether metformin pre-treatment affects subsequent comedone development by IM, metformin was given for 14 days and then withdrawn (14 days) followed by comedone development with IM and metformin treatment. At different time points, dermatoscopic images of rabbit ear were taken for clinical assessment. Blood and biopsy samples were taken for hormonal assessment, histological examination and gene expression. Histologically confirmed acne model was developed in rabbit ear. Follicular size increased significantly (p = 0.0004 in both groups) upon IM application. Metformin significantly decreased comedones size as observed in dermatoscopic (p = 0.0003 in group I, p = 0.0190 in group II) and histological examination (p = 0.0313 in group I and II). However, size of comedones developed after metformin pretreatment was significantly (p < 0.0001) smaller. The lipid content of sebaceous glands decreased with metformin without any significant changes in the assessed hormones and genetic expression. Overall, metformin was found to be clinically effective in experimentally induced acne and can be used in humans.

Clericuzio-type poikiloderma with neutropenia in a patient from India.

A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows. Total leucocyte count and absolute neutrophil count were 3720/mm3 and 420/mm3 respectively. The neutropenia was not cyclical. Systematic analysis of the whole exome data revealed a homozygous mutation in USB1 gene; chr16:g.58043892TA>-[1/1]. A final diagnosis of poikiloderma with neutropenia- Clericuzio type (PNC) was made. Naegeli Franceschetti Jadassohn, dermatopathia pigmentosa reticularis, PNC and dyskeratosis congenita, all can present with overlapping cutaneous manifestations. Subtle clinical details like thickened nails, hyperextensible joints, calcinosis cutis, characteristic facies and a preceding erythematopapular rash strongly favor the diagnosis of PNC. The index case highlights two novel findings: obliterated dermatoglyphics and mucin deposition (features not described hitherto in PNC).

Clinical profile, long-term follow-up and outcome of juvenile systemic scleroderma: 25 years of clinical experience from North-West India.

OBJECTIVES: To describe the clinical profile, long-term follow-up and outcome of juvenile systemic scleroderma (JSSc) from a tertiary care referral hospital in North-West India. METHODS: A review of case records was performed and children with JSSc (disease onset <14 years of age) were analysed. Diagnosis was based on the Paediatric Rheumatology European Society/American College of Rheumatology/European League against Rheumatism provisional classification criteria for JSSc. RESULTS: Forty patients (28 girls and 12 boys; F:M ratio= 2.3:1) were diagnosed with JSSc (including 22 children with overlap) in the last 25 years. Mean age at symptom onset was 7.75±3.19 years with a mean delay in diagnosis of 2.275±2.09 years. Raynaud's phenomenon was seen in 26/40 (65%) patients at presentation. Lung involvement was noted in 40% patients. Methotrexate was the most commonly used therapy, followed by oral prednisolone. Patients without overlap had higher incidence of cutaneous ulcers as compared to patients with overlap (55% vs. 18%; p-value: 0.01). Patients with overlap required significantly higher oral prednisolone (81% vs. 22%), methotrexate (72% vs. 38%) and hydroxychloroquine (54% vs. 5%) while cyclophosphamide (13% vs. 44%) and azathioprine (9% vs. 44%) were used relatively less in this group. Mortality was 15% at a mean follow-up of 51.75 months. Infections were noted to be the most common cause of death. There was no significant difference in the mortality between patients with and without lung disease or patients with or without overlap. CONCLUSIONS: We describe the largest single-centre cohort with longest follow-up of juvenile systemic scleroderma from India.

Clinical, biochemical, and serologic predictors of drug reaction with eosinophilia and systemic symptoms syndrome: A prospective case-control study.

BACKGROUND: Detailed scoring systems such as the European Registry of Severe Cutaneous Adverse Reactions (RegiSCAR) score for validating a diagnosis of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome are available, but there is no rapid, easy tool to identify DRESS at presentation. OBJECTIVE: To identify the clinical, biochemical, and serologic markers predicting the DRESS syndrome and its severity. METHODS: In this prospective observational study, 25 patients with the DRESS syndrome and 25 control patients with maculopapular drug rash were recruited. Baseline clinical, biochemical, and serologic markers, such as high-sensitivity C-reactive protein (hsCRP), erythrocyte sedimentation rate, and thymus and activation-regulated chemokine (TARC) levels, were recorded and their utility in identifying the DRESS syndrome at presentation and predicting severity was analyzed. RESULTS: The effectiveness of TARC level (>613.25 pg/mL), total body surface area (TBSA, >35%), hsCRP (>5 mg/L), eosinophils (>6%), absolute eosinophil count (>450 cells/mm3), and aspartate transaminase (>92 U/L) were statistically similar to the effectiveness of the RegiSCAR DRESS validation score (≥2) in diagnosing the DRESS syndrome. A combination model (TBSA at baseline, eosinophil count, and hsCRP) at the cutoff of 6.8 had a sensitivity of 96% and a specificity of 100%. Baseline serum TARC levels did not predict the DRESS severity or outcome. LIMITATIONS: Small sample size. CONCLUSION: The combination of TBSA involvement, eosinophil count, and hsCRP levels can predict the DRESS syndrome at presentation.

Oral cyclosporine is effective in stabilizing active vitiligo: Results of a randomized controlled trial.

Oral dexamethasone mini pulse (OMP) is an established treatment modality for active vitiligo. Cyclosporine may have therapeutic role in active vitiligo but current evidence supporting its role is scarce. The objective of study was to compare the efficacy and safety of oral cyclosporine with OMP in patients of active vitiligo. Fifty patients with active vitiligo were randomized into two groups of 25 patients. Group 1 was treated with OMP (2.5 mg dexamethasone) on two consecutive days/week for 4 months while group 2 was treated with cyclosporine (3 mg/kg/day) for 4 months. Laboratory monitoring was performed as per the prevalent protocol. The patients were followed up for another 2 months after stopping treatment. Arrest of disease progression (ADP) was defined as change of vitiligo disease activity score from 4+ to 3+ (time elapsed since last disease activity being more than 6 weeks upto 3 months) during the study period (6 months). ADP was attained in 21 patients in group 1 and 22 patients in group 2 (84% vs. 88%, p = 1.00) at the end of 6 months. However, mean time to achieve ADP was significantly lower in group 2 as compared to group 1 (10.92 [4.12] weeks vs. 13.90 [3.92] weeks, p = 0.01). Extent of repigmentation, improvement in patient assessment score, vitiligo quality of life and clinical markers of disease activity were marginal and comparable in both groups. Cyclosporine leads to earlier disease stabilization in active vitiligo as compared to OMP. Although considered a rescue drug in dermatology, low dose cyclosporine can be an effective therapeutic alternative in vitiligo patients.

Dermatoscopic assessment of treatment response in patients undergoing autologous non-cultured epidermal cell suspension for the treatment of stable vitiligo: A prospective study.

There is lack of literature on serial dermatoscopic assessment in patients undergoing non-cultured epidermal cell suspension (NCES) for treatment of stable vitiligo. This prospective study was conducted to evaluate the role of serial dermatoscopy in assessing disease stability and predicting repigmentation rates in vitiligo patients undergoing NCES. Dermatoscopic assessment of target lesions were done at baseline and post-NCES at week 4, 8, 12, 16, and 24. Patches obtaining >90% repigmentation at 24 weeks were categorized to have obtained excellent repigmentation. The dermatoscopic features of target lesions that showed clinical signs of disease activity anytime during the follow-up period were compared to those maintaining clinical stability throughout. Twenty-six vitiligo patients with 52 patches, clinically stable for atleast 1 year were recruited. At follow-up, six patches showed clinical signs of instability. Five patches in the unstable group developed satellite lesions by week 16, compared to none in the stable group (p < 0.05). Excellent repigmentation was achieved in 29 out of 52 patches. Appearance of normal reticular pigment network at 8 weeks was a positive predictor of excellent response (OR = 10.5, CI 1.2-89.7), whereas, altered pigment network at 12, 16, and 24 weeks and telangiectasias at 12 and 16 weeks significantly reduced the odds of excellent repigmentation.

Clinico-epidemiological profile and long term follow up in melasma.

Melasma is a disorder of hyperpigmentation that is frustratingly resistant to therapy with a high recurrence rate on treatment discontinuation. With the scarcity of melasma epidemiological studies from India, we conducted this study to see clinico-epidemiological trends and therapeutic response. Totally 957 melasma patients were studied during the 5-year period between October 2014 and September 2019. A female preponderance was seen. Patients were classified as early, moderate, and late responders if they had more than 80% clinical improvement within 8, 8-12, and 12-16 weeks rest classified as nonresponders. Six hundred and forty-eight patients with mMASI of ≤5 had been prescribed non-hydroquinone-based therapies who had overall response rate of 40.9% by end of 16 weeks, 309 with mMASI >5 received hydroquinone based triple combination with a response rate of 33.6% at end of 16 weeks. A total of 33.65% responded to triple combination compared to 40.1% in the non-hydroquinone group. All nonresponders received oral tranexamic acid 250 mg twice daily. Most patients on oral tranexamic acid group developed recurrence by 6 weeks post discontinuation, compared with triple combination therapy group who had relapsed by 2 months post discontinuation and 4 months to relapse with non-hydroquinone-based therapies. Side effects experienced were 0.83% in hydroquinone group reporting erythema and burning. 0.57% in non-hydroquinone group perceived stinging sensation and none from tranexamic acid group. The longest follow up available in our study was for 18 months. The emergent need of the hour is a long, safe, and effective therapy for melasma.

Teledermatology during the COVID-19 pandemic: Experience at a tertiary care centre in North India.

BACKGROUND: Teledermatology has evolved as a valuable option to outpatient visits during the current pandemic. We set up a smartphone-based hybrid model of teledermatology services providing direct care to patients at our center. To analyse patient and physician-experience and acceptability for teledermatology over a 6-month-period, along with clinicodemographic profile of patients. METHODOLOGY: Single-center, retrospective study conducted from May 20, 2020 to October 31, 2020. Patient satisfaction level for teledermatology was assessed on a 4-point scale and compared with the satisfaction level during their previous physical visits prior to COVID-19 pandemic. A physician assessment form was utilised to record the experience of dermatologists while providing teledermatology services. RESULTS: Of 7530 patients registered, a successful consult was provided to 6125 patients (81.34%). Average number of teleconsultations/day rose from 23.60 in May 2020 to 77.96 in October 2020. Mean age of patients availing teledermatology services was 33.60 ± 16.99 years. Average distance to care and travel time were 100.90 ± 171.77 km and 135 ± 222.32 min, respectively. A definitive diagnosis could be ascertained in 5724 patients (93.45%) and in-person visit was recommended to 133 patients (2.2%). Out of 6125 patients, 5229 could be contacted for feedback, 935 (18.18%), 2230 (42.65%), 1749 (33.45%), and 300 patients (5.70%) reported being very satisfied, satisfied, partially satisfied, and unsatisfied, respectively. Of 1914 patients, who had availed in-person OPD facilities prior to the pandemic, 914 patients (49.62%) preferred in-person visits. Of 34 dermatologists surveyed, 88.2% felt comfortable providing teleconsultations and 82.4% felt the need to continue teledermatology services in the upcoming months. CONCLUSIONS: Overall, teledermatology is a valid alternative for in-person dermatology visits during the current crisis; helping with initial triage and further patient management. Further refinement of the process could lead to even more acceptability.

Oral mycophenolate mofetil in the treatment of acquired dermal macular hyperpigmentation: An open-label pilot study.

BACKGROUND: Literature on treating acquired dermal macular hyperpigmentation is sparse. AIMS AND OBJECTIVES: To assess treatment response of mycophenolate mofetil in patients having acquired dermal macular hyperpigmentation. MATERIAL AND METHODS: In this open-label, pilot study, patients of acquired dermal macular hyperpigmentation affecting at least the face and/or neck were included. Each participant was treated with mycophenolate mofetil 2 g/day for 24 weeks, with a follow-up of 12 weeks. Two aspects of disease severity were measured: activity (appearance of new lesions/extension of existing lesions), and degree of hyperpigmentation (measured using 'dermal pigmentation area and severity index'). Patient satisfaction was assessed on a scale of 0-10. RESULTS: Forty-three of 46 patients who were prescribed mycophenolate, completed the study (40 females, 6 males; mean disease duration 2.8 ± 1.4 years). Amongst 20 (43.5%) patients with active disease, stability was achieved in 17, after a mean duration of 6.1 ± 2.5 weeks (range 4-12 weeks; median 4; IQR 4 weeks). Mean dermal pigmentation area and severity index at baseline was 18.8 ± 7.1 and decreased to 13.7 ± 6.3 at 24th week (27.5 ± 14.7%; P < 0.001). A significant decreasing trend in dermal pigmentation area and severity index (P < 0.001) was observed, and first significant difference from baseline was noted at the 16th week (P 0.008). Less than 10%, >10-20%, >20%-30%, >30%-40%, >40%-50%, and >50% reduction in dermal pigmentation area and severity index was observed in 8, 5, 4, 15, 10 and 1 patients/patient respectively. The maximum mean grade of pre-treatment dermatoscopic severity was 3 ± 0.7, and decreased to 2.1 ± 0.8 on the face (P < 0.001) and 2.4 ± 0.7 on the neck (P < 0.001) post-treatment. There were 9 (20.1%) non-responders. Self-assessment scores of the rest of the patients fell in the range of moderate/fair improvement (>5 to 7). No significant correlation was seen between patient satisfaction score and degree of reduction in dermal pigmentation area and severity index (r -0.39). Three developed adverse effects (leucopenia, n = 1; transaminitis and hyperbilirubinemia, n = 2) that resolved following discontinuation of mycophenolate. CONCLUSION: Mycophenolate mofetil appears to be a promising treatment option in acquired dermal macular hyperpigmentation.

Aberrant ETS-1 signalling impedes the expression of cell adhesion molecules and matrix metalloproteinases in non-segmental vitiligo.

Cell adhesion is a complex process that involves multiple molecules on the cell surface (ie cell adhesion molecules [CAMs]), surrounding cells and extracellular matrix (ECM). Repigmentation in vitiligo is dependent on the ECM remodelling and cellular migration, primarily attributed to the transcriptional activation of matrix metalloproteinases (MMPs). In this study, we aimed to demonstrate the role of ETS-1 signalling in the regulation of MMPs and CAMs. Therefore, we studied the expression of ETS-1, MMPs (MMP-2, MMP-9) and CAMs including E-cadherin, ITGA-1 and ICAM-1 in vitiligo (both active and stable) ex vivo. Further, we compared melanocyte morphology and their adhesion towards collagen IV and laminin between control and vitiligo groups in vitro. Also, we silenced ETS-1 in melanocytes cultured from control skin and observed post-silencing effect on above-mentioned MMPs and CAMs. We perceived absent ETS-1 and significantly reduced CAMs and MMPs in vitiligo compared with normal skin. Scanning electron microscopy (SEM) revealed a translucent material surrounding individual melanocytes in stable vitiligo and controls, whereas active vitiligo melanocytes demonstrated loss of this extracellular substance. Adhesion assays revealed significantly decreased binding of cultured melanocytes to collagen IV and laminin V plates in both stable and active vitiligo. Importantly, ETS-1 silencing resulted in significantly reduced expression of CAMs and MMPs. In conclusion, absent ETS-1 expression in both stable and active non-segmental vitiligo seems to impede the expression of CAMs, apart from MMPs, probably leading to progressive depigmentation in active disease and absence of spontaneous repigmentation in stable disease.

Changing paradigms of dermatology practice in developing nations in the shadow of COVID-19: Lessons learnt from the pandemic.

At present, routine dermatology practices stay mostly disrupted worldwide owing to the ongoing COVID-19 pandemic. However, dermatology services need to be resumed in future and dermatologists especially in developing countries face a mammoth task of devising plans to tackle the upcoming surge of patients while still maintaining the precautions to avoid risk of infection to health care workers and our patients. Teledermatology practice is a viable alternative and there is need of starting functioning teledermatology centers at primary health care centers and training health care workers in telemedicine. Several steps like increasing the working hours of outpatient clinics, posting dermatologists and health staffs in shifts, encouraging online registration and payment, providing time slots to patients should be taken to prevent overcrowding at outpatient departments in hospitals of developing countries like India where the usual patient turnover during summers maybe around 600 to 800 per day. Once diagnosed by the dermatologist, a subsequent meticulous use of teledermatology can limit the number of follow-up visits. To avoid student gatherings, the undergraduate and postgraduate teaching schedule should be replaced by online or virtual teaching in form of webinars and video conferencing. Above all, intense upgradation of health care infrastructure, recruitment, training of new health care staffs on mass level and huge investment in health care sector is required in all the developing countries.