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 homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes. METHODS: We assessed the genotype and phenotype of 9 new, 9 atypical, and 6 previously reported patients diagnosed with MiTES. Using cell lines with homozygous PRDM12 of 12A (normal), 18A (MiTES) and 19A (CIP) we examined PRDM12 aggregation and subcellular localisation by image separation confocal microscopy and sub-cellular fractionation western blotting. RESULTS: MiTES presents in the first year of life, and 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 PRDM12 polyalanine tract shows that 7A -15A are normal; 16A -18A are associated with MiTES; 19A leads to CIP; and no clinically atypical MiTES cases had an expansion. PRDM12 aggregation and sub-cellular localisation differ significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein aggregation disease. CONCLUSION: 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 hypothesise that the developmental environment of the trigeminal ganglion is unique and critically sensitive to prenatal and postnatal levels of PRDM12.

A Delphi consensus on the nomenclature and diagnosis of lichen planus pigmentosus and related entities.

BACKGROUND: Although well known in clinical practice, research in lichen planus pigmentosus and related dermal pigmentary diseases is restricted due to lack of consensus on nomenclature and disease definition. AIMS AND OBJECTIVES: Delphi exercise to define and categorise acquired dermal pigmentary diseases. METHODS: Core areas were identified including disease definition, etiopathogenesis, risk factors, clinical features, diagnostic methods, treatment modalities and outcome measures. The Delphi exercise was conducted in three rounds. RESULTS: Sixteen researchers representing 12 different universities across India and Australia agreed to be part of this Delphi exercise. At the end of three rounds, a consensus of >80% was reached on usage of the umbrella term 'acquired dermal macular hyperpigmentation'. It was agreed that there were minimal differences, if any, among the disorders previously defined as ashy dermatosis, erythema dyschromicum perstans, Riehl's melanosis and pigmented contact dermatitis. It was also agreed that lichen planus pigmentosus, erythema dyschromicum perstans and ashy dermatosis did not differ significantly apart from the sites of involvement, as historically described in the literature. Exposure to hair colours, sunlight and cosmetics was associated with these disorders in a significant proportion of patients. Participants agreed that both histopathology and dermatoscopy could diagnose dermal pigmentation characteristic of acquired dermal macular hyperpigmentation but could not differentiate the individual entities of ashy dermatosis, erythema dyschromicum perstans, Riehl's melanosis, lichen planus pigmentosus and pigmented contact dermatitis. LIMITATIONS: A wider consensus involving representatives from East Asian, European and Latin American countries is required. CONCLUSION: Acquired dermal macular hyperpigmentation could be an appropriate conglomerate terminology for acquired dermatoses characterised by idiopathic or multifactorial non-inflammatory macular dermal hyperpigmentation.

Use of Bleach Baths for Atopic Dermatitis: An Indian Perspective.

Atopic dermatitis (AD) is a chronic, relapsing inflammatory skin disorder affecting 15-20% of children and 1-10% of adults. Staphylococcus aureus (S. aureus) infection is the most frequent complication of AD and is involved in the worsening of the disease. Systemic and topical antibiotics are used in the treatment for AD but there are concerns over increasing resistance. Bleach (sodium hypochlorite, NaOCl) baths are an inexpensive, widely accessible, alternative antibiotic treatment that may not worsen antibiotic resistance. Bleach baths are used as adjunctive treatment in AD patients to treat superinfections, although their mechanism of action is not well understood. Balancing safety concerns with efficacious treatment should be important especially for AD where the majority of patients are in pediatrics age groups. Studies available in PubMed databases were included in this review. Most suggested bleach bath improves clinical symptoms of AD and restores surface microbiome by eradicating bacteria, most notably S. aureus. Some studies have noted that this antimicrobial effect has reduced the need for topical corticosteroids. In addition, bleach seems to have strong anti-inflammatory and antipruritic effects. Overall, bleach baths seem to be safe on human skin, without disrupting the epidermal barrier function. The review concluded, although there are some advantages of use of bleach baths, more studies to investigate long-term efficacy and safety of bleach baths are required before fixing its role in the treatment of AD especially in the context of the Indian scenario.

Evidence-Based Guidelines for SARS-COV-2 Vaccination of Patients of Skin Allergic Diseases and Patients on Immuno-Therapeutics.

There is a dearth of data regarding the safety and timing of the severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) vaccination of patients on immunosuppressive or immunomodulatory therapies. However, data from other vaccine trials may be extrapolated to get an idea regarding the recommendation of SARS-COV-2 vaccines. All the novel SARS-COV-2 vaccines are non-live, thus ensuring the safety of the vaccines. However, the vaccines may not be able to generate an equipotent immunogenic response in patients receiving immunotherapeutics, in comparison to those who are not. We have attempted to put forward certain statements, with respect to SARS-COV-2 vaccination of patients who are on treatment for different dermatological conditions. However, the risk-benefit ratio must be discussed between the patient and the physician, and the final call should be individualized.

Diagnosis and Management of Urticaria in Indian Settings: Skin Allergy Research Society's Guideline-2022.

Urticaria is a common skin disorder. Chronic urticaria, i.e., the presence of symptoms for more than six weeks, is associated with a significant adverse impact on sleep, performance, quality of life, and financial status of the patients. Although several treatment options are available, the condition can be challenging to treat for many clinicians. Several updates have been published on the subject of urticaria and its management since the publication of an updated consensus statement in 2018 by Indian experts. The objective of this consensus statement is to summarize the updates and provide concise information, including classification, diagnosis, and management of urticaria. Understanding and elimination of the underlying eliciting trigger are essential in all possible cases. The goal of pharmacological treatment is to provide symptomatic relief. Second-generation nonsedating H1 antihistamine continue to be recommended as the first-line treatment, the dose of which can be increased up to four times in patients not responding satisfactorily, in the second step. The role of omalizumab, cyclosporine, H2 antihistamines, and other options is also discussed.

Twenty-five practical recommendations in primary care dermoscopy.

Dermoscopy in primary care enhances clinical diagnoses and allows for risk stratifications. We have compiled 25 recommendations from our experience of dermoscopy in a wide range of clinical settings. The aim of this study is to enhance the application of dermoscopy by primary care clinicians. For primary care physicians commencing dermoscopy, we recommend understanding the aims of dermoscopy, having adequate training, purchasing dermoscopes with polarised and unpolarised views, performing regular maintenance on the equipment, seeking consent, applying contact and close non-contact dermoscopy, maintaining sterility, knowing one algorithm well and learning the rules for special regions such as the face, acral regions and nails. For clinicians already applying dermoscopy, we recommend establishing a platform for storing and retrieving clinical and dermoscopic images; shooting as uncompressed files; applying high magnifications and in-camera improvisations; explaining dermoscopic images to patients and their families; applying toggling; applying scopes with small probes for obscured lesions and lesions in body creases; applying far, non-contact dermoscopy; performing skin manipulations before and during dermoscopy; practising selective dermoscopy if experienced enough; and being aware of compound lesions. For clinicians in academic practice for whom dermatology and dermoscopy are special interests, we recommend acquiring the best hardware available with separate setups for clinical photography and dermoscopy; obtaining oral or written consent from patients for taking and publishing recognisable images; applying extremely high magnifications in search of novel dermoscopic features that are clinically important; applying dermoscopy immediately after local anaesthesia; and further augmenting images to incorporate messages beyond words to readers.

Chronic actinic dermatitis: An only presenting manifestation of human immunodeficiency virus in a young Indian male.

Skin diseases often provide the first clue to diagnose human immunodeficiency virus (HIV) infection and may serve as a clinical indicator of the underlying immune status of the patient. Photodermatitis in HIV patients presents with a protean of clinical manifestations, and it usually develops after the diagnosis or during the course of HIV, especially in patients with low CD4 counts. We present the case of a young, healthy Indian male with chronic actinic dermatitis (CAD), who was later confirmed to have HIV seropositivity with CD4 count of 180/µl, without any systemic illness or evidence of acquired immunodeficiency syndrome (AIDS)-defining illnesses. CAD as an initial presentation of HIV is a rare finding, especially in the absence of other AIDS-defining illnesses.

Propranolol Followed by a Foam Sclerotherapy for Treatment of Tufted Angioma over Neck: A Novel Therapeutic Approach.

Tufted angioma is a rare vascular tumor with cutaneous angiomatous proliferation, commonly localized in the skin and subcutaneous tissues. Most cases are usually acquired in childhood, having protracted course with minimal tendency for spontaneous regression. Various treatment modalities have been described in the literature in the management of tufted angioma with variable response. Thus, there is an urge for simple yet effective and less invasive procedure for tufted angioma, particularly involving aesthetically important areas such as face, head, and neck. We report a case of a large tufted angioma over the neck of a young girl, successfully treated with a combined approach of oral propranolol and foam sclerotherapy.

Acute Onset of Painful Hairy Eruption on Dorsum of Foot: An Interesting Story!

Caterpillar dermatitis is a commonly observed dermatological condition in tropical countries. Contact with caterpillar can cause localized stings, eczematous or papular dermatitis, urticaria, and in some cases life-threatening reactions. We report a case of a patient presenting with acute-onset painful hairy eruption on dorsum of the left foot near great toe. Detailed history and investigations led to appropriate diagnosis.

Guidelines on Management of Atopic Dermatitis in India: An Evidence-Based Review and an Expert Consensus.

BACKGROUND: Atopic dermatitis (AD) is a common and chronic, pruritic inflammatory skin condition that affects all age groups. There was a dearth of consensus document on AD for Indian practitioners. This article aims to provide an evidence-based consensus statement for the management of AD with a special reference to the Indian context. This guideline includes updated definition, etiological factors, classification, and management of atopic dermatitis. METHODOLOGY: The preparation of guidelines was done in multiple phases. Indian Dermatology Expert Board Members (DEBM), recommended by the Skin Allergy Society of India, prepared 26 evidence-based recommendations for AD. An extensive literature search was done in MEDLINE, Google scholar, Cochrane, and other resources. Articles published in the past 10 years were reviewed and recommendations were graded based on the quality of evidence as per GRADE. After forming the initial structure, DEBM met in Mumbai and gave their decisions on an agree and disagree scale with an Indian perspective. Finally, their suggestions were compiled for preparing the article. After DEBM finalized the draft, a treatment algorithm was formulated for the management of AD. RESULTS: DEBM suggested a working definition for AD. The panel agreed that moisturizers should be used as mainstay of therapy and should be continued in all lines of therapy and in maintenance phase. Topical corticosteroids and topical calcineurin inhibitors should be considered as the first line of treatment. Among systemic therapies, cyclosporin should be considered first line, followed by azathioprine, methotrexate, and mycophenolate mofetil. Phototherapy can be an effecive alternative. Empirical food restriction was recommended against. CONCLUSION: These guidelines should form a reference for the management of patients with AD in an evidence-based manner.

Outcomes of dermoscope-guided surgical procedures in primary care: case-control study.

INTRODUCTION No research has been found regarding outcomes of dermoscope-guided surgical procedures in primary care. AIM To establish whether outcomes of dermoscope-guided procedures performed in primary care settings differ from outcomes for similar procedures, performed without the use of a dermoscope. METHODS A retrospective case-control study design was used. All records of dermoscope-guided procedures performed over a 6-month period were retrieved. For each study procedure, the record of the most recent control procedure without dermoscopy guidance performed on a sex-and-age matched patient was retrieved from before we began performing dermoscope-guided procedures. Primary outcomes were: local inflammation and infections within 2 weeks' post procedure; relapse in 6 months; and obvious scars in 6 months. Pain affecting activities of daily living in the first week after the procedure was the secondary outcome. RESULTS Records of 39 dermoscope-guided procedures and 39 control procedures were retrieved. No significant difference in local inflammation and infections in 2 weeks was found; relapse in 6 months after the study procedures was significantly lower for dermoscope-guided than control procedures (risk ratio (RR): 0.22; 95% confidence interval (CI): 0.05-0.95), and there were fewer obvious scars for dermoscope-guided procedures than control procedures (RR: 0.52; 95% CI: 0.32-0.83), with the number of small lesions (<4 mm) leaving scars in study procedures particularly less than that for control procedures (RR: 0.30; 95% CI: 0.13-0.67). There was no difference in the secondary outcome of pain affecting activities of daily living in the first week following the procedure. CONCLUSION In primary care, dermoscope-guided procedures achieved better outcomes than similar procedures without dermoscope guidance. Performing dermoscope-guided procedures in primary care might lower medical costs.

Pityriasis rosea: elucidation of environmental factors in modulated autoagressive etiology and dengue virus infection.

INTRODUCTION: A retrospective epidemiological study was conducted to study seasonal variation in the incidence of pityriasis rosea (PR) and its temporal association with various meteorological variables, and dengue virus infection. METHODS: The study was conducted at a tertiary referral center in Guwahati, Assam, India. We searched for and retrieved all medical records of patients diagnosed with PR by dermatologists from December 1st, 2014 to July 31st, 2017. The diagnosis was made only if the patient fulfilled at least three out of the following four clinical features: 1) herald patch, 2) peripheral collaret scales, 3) predominant truncal and proximal limb distribution of the lesions, and 4) orientation of lesions along the lines of cleavage. For each visit by every patient, we retrieved data for the monthly mean air temperature, mean total rainfall, and mean relative humidity. PR patients that had dengue fever with NS1 antigen and/or IgM/IgG antibody positivity were studied along with healthy controls. RESULTS: Overall, PR occurred more frequently in the colder months and months with less rainfall. However, these associations were insignificant (p = 0.23, R = -0.38, and R = -0.55, respectively). Upon further examination of the data, we found that the monthly incidence of PR was significantly lower in March and April than the other months during the study period (F = 8.31, p = 0.002). A statistically significant higher incidence was detected in September, November, and December (p < 0.01 for 2014 and 2017, but not in the 2016 seasonal cohort) and also in January and February (p < 0.05 for 2016 and 2017). Interestingly, a retrospective history of dengue fever emerged as a significant correlate. CONCLUSIONS: In our setting, there was significant temporal clustering and seasonal variation among patients with PR. The incidence of dengue fever is significantly correlated with PR.

Periorbital pigmentation: An alarming sign of metabolic syndrome.

Periorbital pigmentation is a commonly encountered condition which presents clinically as bilateral round, oval or semicircular homogenous dark brown pigmented macules in the periocular region. It may influence quality of life of an individual with its strong psychological impact. We present a case of middle-aged female patient, who had periorbital pigmentation as a manifestation of acanthosis nigricans. On evaluation, she was found to have hypertension, hyperglycemia, and dyslipidemia and she fulfilled the criteria for metabolic syndrome. We believe, it is important to evaluate the patients who present as periorbital pigmentation with clinical features of acanthosis nigricans for underlying metabolic syndrome.

Pigmented transverse nasal band: A distinct presentation.

Pigmented transverse nasal band (PTNB) is an interesting morphological entity mainly of cosmetic concern. It is believed to be related to a defect in the development of the nasal cartilages and bones from childhood to adolescence. Some patients may have genetic predisposition. It is asymptomatic in nature and may be associated with certain dermatological conditions such as seborrheic diathesis, dermatosis papulosa nigra, ichthyosis, atopic dermatitis, acne vulgaris, psoriasis, and seborrheic melanosis.