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Hereditary reticulate pigmentary disorders include a group of genetic disorders with net-like pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in the diagnosis. Based on the literature search, we propose an easy-to-follow concise diagnostic algorithm for the same. This would aid in ordering a definite genetic test. A thorough data search was done using data base PubMed using the following keywords. It included "'inherit*' OR 'genetic'" AND "reticulate AND pigment*"'. Thereafter, an individual disease search was done using keywords 'Dowling-Degos disease', 'Dyschromatosis Hereditaria Symmetrica', 'Acropigmentation of Kitamura', 'Dyschromatosis Universalis Hereditaria', 'Naegeli-Franceschetti-Jadasssohn syndrome', 'X-linked reticulate pigmentary disorder' and 'Dyskeratosis congenita'. The search included case reports, series, observational studies, narrative and systematic reviews, clinical trials. Acquired pigmentary disorders were excluded. A total of 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative review articles (40), case series (23), observational studies (44), and case reports (518). An easy-to-follow clinical diagnostic algorithm based on age of onset, distribution, and other parameters would definitely aid in reaching a provisional diagnosis. And further this approach will help in the genetic workup of a case of hereditary reticulate pigmentary disorder.
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RASopathies refers to the group of disorders which are caused by a mutation in various genes of the RAS/MAPK (RAT sarcoma virus/Mitogen activated protein kinase) pathway. It includes many genes with varied functions, which are responsible for cell cycle regulation. As the mutation in one gene affects the entire pathway, there are many overlapping features among the various syndromes which are included under an umbrella term "RASopathies." However, neuroectodermal involvement is a unifying feature among these syndromes, which are caused by germline mutations affecting genes along this pathway. Recently, many other RASopathies have been described to involve blood vessels, lymphatics, and immune system. Also, many cutaneous mosaic disorders have been found to have mutations in the concerned pathway. The purpose of this article is to briefly review the pathogenesis of RASopathies with cutaneous manifestations, and summarise the features that can be helpful as diagnostic clues to dermatologists. As we understand more about the pathogenesis of the pathway at the cellular level, the research on genotype-phenotype correlation and therapeutic options broadens. Targeted therapy is in the clinical and preclinical trial phase, which may brighten the future of many patients.
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The congenital photosensitivity disorders present as cutaneous signs and symptoms secondary to photosensitivity, extracutaneous manifestations, and a predisposition to malignancy. Diagnosis of these conditions mainly depend on clinical findings as the molecular analysis is not always feasible. A review of all the related articles collected after a thorough literature search using keywords, "congenital AND photosensitivity NOT acquired" and the individual diseases was done. A total of 264 articles were included in the review. An algorithm for diagnosis of the different congenital photosensitivity disorders based on the various clinical presentations has been proposed. An early suspicion and diagnosis of the different congenital photosensitivity disorders is the cornerstone behind prompt institution of prevention and treatment, and decreasing the associated morbidity.
Assuntos
Transtornos de Fotossensibilidade , Humanos , Transtornos de Fotossensibilidade/diagnóstico , Transtornos de Fotossensibilidade/etiologia , Transtornos de Fotossensibilidade/terapia , Pele , AlgoritmosRESUMO
Background: Toilet seat dermatitis (TSD) is a localized form of dermatitis that commonly occurs in the buttocks and upper posterior aspect of the thigh in school-going children. Previously, it was mostly seen due to allergic contact dermatitis to wood, but recently, many other allergens in toilet seats along with the possibility of irritant contact dermatitis (ICD) to detergents were reported. Materials and Methods: Six cases diagnosed clinically as atopic dermatitis per Hanifin and Rajka criteria presented with posterior thigh dermatitis. Patch testing using the Indian Standard Series, toilet seat scrapings, and detergents was conducted. Results: Patch testing showed negative results at 48, 96, and 168 hours, including lesional site testing. Symptomatic management, including topical steroids and later tacrolimus, was administered, coupled with counselling on toilet seat cover use, with a follow-up after four weeks. Lesions showed resolution and reduced itching. Limitation: This study's limitation lies in its small sample size from a single geographic area. Conclusion: Lesion resolution through topical treatment and toilet seat avoidance, support a diagnosis of contact dermatitis; however, the role of atopy remains crucial, suggesting a complex interplay. Larger studies are needed for a comprehensive understanding of this dermatological condition.
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Vascular malformations are intricate anomalies of the circulatory system, presenting a diverse array of clinical manifestations, and posing significant challenges in diagnosis and treatment. The pathogenesis of vascular malformations is explored through the lens of genetic and molecular mechanisms, shedding light on the pivotal role of somatic mutations and dysregulated signaling pathways. Clinical presentations of vascular malformations are widely variable, ranging from cosmetic concerns to life-threatening complications. The utility of imaging techniques, such as magnetic resonance imaging (MRI), computed tomography (CT), and angiography, are discussed in detail, emphasizing their role in precise delineation and characterization. Therapeutic strategies for vascular malformations are multifaceted, considering factors such as lesion size, location, potential complications, and patient-specific factors. Traditional interventions, including surgical excision and embolization, are appraised alongside emerging approaches like targeted molecular therapies and minimally invasive procedures. The manuscript underscores the need for an individualized treatment approach, optimizing outcomes while minimizing risks and complications. In summation, this manuscript offers a comprehensive analysis of vascular malformations, encompassing their underlying pathogenesis, clinical nuances, diagnostic methods, and therapeutic considerations. By synthesizing current knowledge and highlighting gaps in understanding, this review serves as a valuable resource for clinicians, researchers, and medical practitioners, fostering an enhanced comprehension of vascular malformations and paving the way for improved patient care and innovative research endeavors.
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Introduction: Topical steroid damaged face (TSDF) is a common occurrence in the current scenario, where darker - skinned people believe having lighter-colored skin improves their prospects in all aspects of life. This has led to the abuse of topical corticosteroids with unrealistic expectations driven by ignorance of the adverse effects, particularly in the Indian population. As TSDF is virtually an epidemic in India and there is no treatment protocol for dermatologists, we conducted this study to find out what dermatologists prescribe and, in turn, serve as a foundation to develop guidelines in the future. Materials and Methods: Forty dermatologists from Odisha, India, were selected to complete the questionnaire, containing 18 questions about diagnosis, treatment and necessary referral for ocular complications. Results: All participants were frequently diagnosing and treating TSDF. A total of 92.5% of the participants preferred initiating systemic therapy with isotretinoin or doxycycline as the drug of choice. Clindamycin and tacrolimus were preferred by 55% and 50% of participants, respectively, as the topical drug of choice. A total of 62.5% of the participants advised physical sunscreens and mild cleansers to be used with water at room temperature to wash their face. To reduce facial erythema, brimonidine was advised by 45% of participants. Conclusion: Standardized guidelines for managing TSDF are the need of the hour.
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Introduction: Lichen planopilaris (LPP) and discoid lupus erythematosus (DLE) are primary scarring alopecias that pose diagnostic challenges clinically, where trichoscopy features may provide benefit in delineating these two cicatricial alopecia, and also helps in assessing the evolution and therapeutic response. To date, there are few reviews on dermoscopic findings in differentiating these two alopecias. Methods: A systematic literature review was conducted using the PubMed and Google Scholar databases. The search terms included for scalp DLE were 'lupus' OR 'discoid lupus' OR "scalp lupus" and for scalp LPP were "lichen planopilaris" OR "scalp follicular lichen planus" OR "lichen planus follicularis" and were combined with "dermoscopy" OR "dermatoscopy" OR "videodermoscopy" OR "video dermatoscopy" OR "trichoscopy". The differences in the prevalence of dermoscopic features in scalp DLE and LPP were calculated using the Chi-square test. Results: Of 52 articles, 36 (17 LPP, 19 DLE) were eligible for quantitative analysis. We found predominant peripilar tubular casts and perifollicular erythema with the presence of arborizing vessels in the vicinity of these changes, indicating early LPP. In contrast, follicular red dots, speckled brown pigmentation, and hair diameter variability indicated active DLE. Shiny white areas were common in both the groups in late stages. The target pattern of distribution of blue-grey dots, milky red areas, and irregular white fibrotic dots were seen in LPP, and pink-white background, follicular plugs, perifollicular and interfollicular scale, rosettes, chrysalides, and red spider on yellow dots were detected in DLE. Features such as yellow dots and blue-grey structureless areas were nonspecific and did not have a major role in differentiating DLE from LPP. Conclusion: This article provides a comprehensive review of the literature and delineates the trichoscopic differences and peculiarities of scalp DLE and LPP, including the correlation of dermoscopic features with histopathological findings.
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Background: There has been a significant increase in the incidence of recurrent, resistant, and extensive dermatophyte infections worldwide recently. This menace has spurred the need for more well-designed randomized controlled trials to optimize the treatment of dermatophyte skin infections. One of the limitations in designing such studies is the limited availability of standard and validated score, to measure the severity of dermatophyte infections. Aims: To create a severity score for the evaluation of dermatophyte infections. Materials and Methods: A Delphi consensus model was used to frame a severity scoring tool for superficial dermatophyte skin infections. Fourteen experts participated in the first round and twelve experts participated in the second round. Results: Based on the expert consensus, a final scoring system proposed was: Final Severity Score (FSS) = Sum total of Body Surface Area (BSA) in hand units for each patch multiplied by the sum of the scores for pruritis (P), lichenification (L), and actively raised borders (A) for each patch (FSS = BSA in hand units × (P + E + L + A) of patch 1 + BSA in hand units × (P + E + A) of patch 2 etc.). For measuring hand units more accurately fractional values of 0.25 can be used (0.25 corresponding to an approximate 1/4th of a hand unit). A score of +1 will be added in case of the following - 1) Close contact/family member affected, 2) History of at least one recurrence in the previous 6 months after a course of oral antifungals, 3) History of immunosuppression (on immunosuppressive medication or having underlying immunosuppressive disease). The scores will be valid only if the patient has not used any treatment topical or systemic, for at least 2 weeks before enrolment. Conclusion: The proposed Dermatophytosis Area and Severity Index (DeASI) score will help the physicians and researchers standardize the treatment protocol for dermatophytosis, henceforth, assessing the response to therapy. This will also help to standardize the parameters of effectiveness while designing any clinical trial.