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Background: Information on bullous pemphigoid in an Indian context is scarce. Aim: To report clinico-demographic profile, associated comorbidities and prescription pattern of bullous pemphigoid patients in India. Methods: This was a retrospective study, where past records of all bullous pemphigoid patients diagnosed and treated between November 2013 and October 2019 were accessed and analysed. Patients having a compatible clinical presentation with either histopathological and/or direct immunofluorescence evidence of bullous pemphigoid were included. Results: There were 96 bullous pemphigoid patients, with a male: female ratio of 1.6:1. The mean age at diagnosis was 62.5 ± 2.2 years, with mean duration of illness 27.5 ± 4.5 months before presentation. Comorbidities were present in 80 (83%) patients, with type 2 diabetes mellitus (38.5%), hypertension (36.4%) and neurological illness (16.7%) being the commonest ones. Clinically, blisters were the predominant presentation in 81 (84.4%) patients. The majority (87.5%) of patients showed a predominant eosinophilic infiltrate on histopathology. Direct immunofluorescence revealed immunoglobulin G deposits with complement C3 in 77 (80.2%) cases. The majority of patients (77.1%) were treated with oral prednisolone, either alone (11.5%) or in combination (65.6%) with other topical and systemic agents. Topical steroids were used in 29.1%, azathioprine in 28%, dapsone in 16.7% and omalizumab in 6.2% of patients. Limitations: The study is retrospective. Immunofluorescence on salt split skin, direct immunofluorescence serration pattern analysis, and immunoblotting were not performed. Hence, there is a possibility that a few included cases were suffering from other subepidermal autoimmune bullous diseases like epidermolysis bullosa acquisita or anti-p200 pemphigoid. Conclusion: Bullous pemphigoid patients in this study had a younger age of onset and showed male preponderance. Comorbidities like type 2 diabetes, hypertension and neurological disorders were freq
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Background: Syringocystadenoma papilliferum is a benign adnexal neoplasm. Contiguous squamous proliferation has been rarely described in syringocystadenoma papilliferum. Aims: This study aimed to evaluate the spectrum and pathogenesis of contiguous squamous proliferation in syringocystadenoma papilliferum. Materials and Methods: All cases of syringocystadenoma papilliferum diagnosed over the past 12 years were screened for contiguous squamous proliferation. Cases with associated nevus sebaceous were excluded from the study. Immunohistochemistry for GATA3, CK7, BRAFV600E and p16 was performed. PCR for human papilloma virus, type 16 and 18, was carried out. Results: Of a total of 30 cases, 14 cases showed associated contiguous squamous proliferation which included four cases of verrucous hyperplasia, six cases with papillomatosis, two cases with mild squamous hyperplasia and one case each of Bowen’s disease and squamous cell carcinoma. In the cases with non-neoplastic contiguous squamous proliferations, the squamous component did not express CK7 or GATA3. However, the squamous component of premalignant and malignant lesions expressed CK7 and GATA3 concordant with the adenomatous component. BRAF was positive in adenomatous component in five cases while the contiguous squamous proliferation component was negative for BRAF in all but one case. p16 was negative in both components of all cases and PCR for human papilloma virus was negative in all cases. Limitations: Due to the rarity of disease, the sample size of our study was relatively small with two cases in the 2nd group, that is, syringocystadenoma papilliferum with malignant contiguous squamous proliferation. Detailed molecular studies such as gene sequencing were not performed. Conclusion: Syringocystadenoma papilliferum with contiguous squamous proliferation is underreported, and most commonly displays verrucous hyperplasia. The premalignant and malignant contiguous squamous proliferations likely arise from syringocystadenoma papilliferum while the hyperplastic contiguous squamous proliferations likely arise from the adjacent epidermis. Relationship with high-risk human papilloma virus is unlikely. However, further molecular analysis of larger number of cases is required to establish the pathogenesis.
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Pustules in a neonate can be due to various causes. Though the majority of conditions causing pustules in a neonate are benign, it is essential to clearly differentiate these from serious ones. A systematic approach based on detailed history and clinical examination of the neonate along with basic laboratory evaluation narrows down diagnostic possibilities and aids in the correct diagnosis. This review outlines a step-by-step approach so as to avoid clinical dilemmas and unnecessary intervention
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Background: Quality of life (QoL) has not been evaluated in Indian patients having epidermolysis bullosa (EB). Aims: The aims of the study were to measure health-related QoL in Indian patients having EB using the quality of life in epidermolysis bullosa (QoLEB) questionnaire, and to find its correlation with clinically measured disease severity. Methods: In this observational cross-sectional study, the QoLEB questionnaire was translated from English to Hindi (QoLEB-Hin) and culturally adapted without a change in concept following standard guidelines. QoLEB-Hin and three clinical scores that have been independently validated in EB, that is, Birmingham Epidermolysis Bullosa severity score (BEBs), Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (iscorEB) and Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI), were administered to EB patients/their parents in the presence of an expert. This was followed by validity and correlation studies. Results: Fifty-four patients were recruited (19-females, 35-males; median age 5 years, range 0.025–36 years and 12 patients with an age >13 years). The parents answered the questions for 42 patients (age <13 years). Dystrophic epidermolysis bullosa was diagnosed in 32 (59.2%) patients (dominant dystrophic epidermolysis bullosa [DDEB]-19 [35.2%] and recessive dystrophic epidermolysis bullosa [RDEB]-13 [24.1%]). Junctional epidermolysis bullosa (JEB) and epidermolysis bullosa simplex (EBS) were each diagnosed in 11 (20.4%) patients. The mean ± standard deviation (SD) of QoLEB-Hin score of all epidermolysis bullosa patients was 11.3 ± 7.6 (range 0–28; median and interquartile range [IQR], 10, 10) and reflected an overall moderate degree of affliction on QoL of patients. Mean ± SD of QoLEB-Hin scores for EBS, JEB, DDEB and RDEB were 5.4 ± 3.7 (range, 1–13; median and IQR, 6, 6), 11 ± 6.2 (range, 1–22; median and IQR, 10, 6), 9 ± 5.7 (range, 0–19; median and IQR, 10, 10) and 20.1 ± 6.4 (range, 12–28; median and IQR, 19, 12.5), respectively (P < 0.001, Kruskal–Wallis analysis of variance). Cronbach’s alpha coefficient of 0.946 was obtained for all items indicating excellent internal consistency and reliability. Mean sample adequacy was 0.91; absolute fit based off diagonal values was 0.99; indices root mean square error of approximation and root mean square residual were 0.04 and 0.05, respectively, and Tucker Lewis index was >1 indicating overfit. The mean time taken to complete the questionnaire was 6.1 min (range, 6–8 min). QoLEB-Hin correlated significantly (P < 0.001) with BEBs (ρ = 0.79), iscorEB (ρ = 0.63) and EBDASI (ρ = 0.77). Three multiple linear regression models were used to ascertain the strength of relationship between QoL-Hin, and BEBs, iSCOREB and EBDASI, respectively, after adjusting for age, gender and disease subtype. The EBDASI clinical score accounted for approximately 74% (R2 = 0.736, P < 0.001) of the variability in QOL-Hin, as compared to 73% and 55% by BEBs (R2 = 0.731, P < 0.001) and iscorEB (R2 = 0.545, P < 0.001), respectively.Limitations: Parents filled out the questionnaires for many patients and probably led to an overall moderate degree of affliction of QoL. Comparison with Dermatology Life Quality Index and other QoL scores were not done in this study. Furthermore, the scoring was done at one point in time, and test-retest measurements could not be performed. Conclusion: This study validated QoLEB-Hin in an Indian population finding an overall moderate reduction in QoL due to EB. Maximally affected QoL was seen in patients with RDEB. Furthermore, QoLEB-Hin had a variable positive correlation and association with all clinical severity assessment scores
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Background: Psoralen with ultraviolet A is an effective photochemotherapeutic modality. A subtype of this, PUVAsol, uses sunlight as the natural source of ultraviolet A. The amount of sunlight received and the consequent ultraviolet A exposure vary according to the month in the year, time of the day and geographical location of a place. Aim: The aim of this study is to determine irradiance of ultraviolet A in ambient sunlight and optimum exposure time for PUVAsol. Materials and Methods: This was an observational study carried out at Postgraduate Institute of Medical Education and Research, Chandigarh (30.7333°N, 76.7794°E), India using a photometer. Ultraviolet A irradiance was recorded at a fixed place at 10 AM, once weekly for a period of 12 months. Results: The irradiance of peak ultraviolet A was found to be 3.1 mW/cm2 in June 2016 while irradiance of 0.64 mW/cm2 was recorded in January 2017. The exposure time needed for therapeutic dose of 2 J/cm2 was 11 min 6 s in June 2016 while exposure time for achieving therapeutic dose of 2 J/cm2 was 52 min 5 s in January 2017. The duration of exposure was found to be significantly longer in the winter months. Limitation: The limitation of the study is not determining ultraviolet B radiation and infrared exposure. Other limitation of this study is that the irradiance was measured only at 10 am. This data cannot be used to determine irradiance at different time points in the day as the patient may expose himself/herself to sunlight anytime depending on his/her convenience. Conclusions: The study demonstrates the mean exposure time required for a given therapeutic dose of ultraviolet A in different months. The wide variation in ultraviolet A irradiance in natural sunlight over the year in different months also suggests that exposure times for PUVAsol should be based on the season and geographical location at the site of therapy and not based on uniform guidelines.
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Background: The subepidermal autoimmune bullous diseases are a subset of immunobullous diseases encountered less frequently in the Indian population. There is a paucity of data on the prevalence, demographic and clinicopathological spectrum of various subepidermal autoimmune bullous diseases from India. Aim: To determine the demographic and clinicopathological profi le of subepidermal autoimmune bullous diseases in Indian patients, presenting to the Immunobullous Disease Clinic of Postgraduate Institute of Medical Education and Research, Chandigarh. Methods: Patients seen from November 2013 to November 2014 who fulfi lled the preset diagnostic criteria of subepidermal autoimmune bullous diseases were identifi ed from case records. Data regarding demographic characteristics, clinical profi le, immunopathological fi ndings and treatment were collected from the predesigned proforma. Results: Of 268 cases of autoimmune bullous diseases registered, 50 (18.7%) were subepidermal autoimmune bullous diseases. Bullous pemphigoid was most frequently seen in 20 (40%) cases, followed by dermatitis herpetiformis in 14 (28%), mucous membrane pemphigoid in 6 (12%), chronic bullous dermatosis of childhood / linear immunoglobulin A bullous dermatosis in 5 (10%), lichen planus pemphigoides in 3 (6%), pemphigoid gestationis and epidermolysis bullosa acquisita in 1 (2%) case each. None of the patients had bullous systemic lupus erythematosus. Limitations: We could not perform direct and indirect immunofl uorescence using salt-split skin as a substrate and immunoblotting due to non-availability of these facilities. Therefore, misclassifi cation of subepidermal autoimmune bullous diseases in some cases cannot be confi dently excluded. Conclusion: Subepidermal autoimmune bullous diseases are not uncommon in Indian patients. Bullous pemphigoid contributes maximally to the burden of subepidermal autoimmune bullous diseases in India, similar to that in the West, although the proportion is lower and disease onset is earlier. Dermatitis herpetiformis was observed to have a higher prevalence in our population, compared to that in the West and the Far East countries. The prevalence of other subepidermal autoimmune bullous diseases is relatively low. Detailed immunofl uorescence and immunoblotting studies on larger patient numbers would help better characterize the pattern of subepidermal autoimmune bullous diseases and their features in Indian patients.
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Background: Squamous and basal cell carcinomas together constitute the majority of non-melanoma skin cancers. These malignancies are infrequent in Indians as compared to the white skinned population. Literature on squamous cell carcinoma in dark skin is limited. Aim: To analyze the risk factors and to characterize the histopathological subtypes of cutaneous squamous cell carcinoma in Indian patients in an area, non-endemic for arsenicosis. Methods: A retrospective analysis of data from January 2003 to August 2013 was performed to evaluate the predisposing factors and histopathological types of cutaneous squamous cell carcinoma at the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh. Demographic and disease characteristics such as age, gender and predisposing factors, particularly premalignant dermatoses were recorded and histopathology slides were reviewed. Results: Of the 13,426 skin biopsy specimens received during the 10-year period, there were 82 (0.6%) cases of squamous cell carcinoma and 170 (1.7%) of basal cell carcinoma. The mean age at diagnosis of cutaneous squamous cell carcinoma was 53.7 years and the male to female ratio was 2:1. The most common site of involvement was the lower limbs in 34 (41.5%) patients. Marjolin’s ulcer was present in 36 (43.9%) cases. No predisposing factor was identifi ed in 35 (42.7%) patients. Histopathologically, the tumors were classifi ed most commonly as squamous cell carcinoma not otherwise specifi ed in 33 (40.2%) cases. Limitations: This was a retrospective study and details of occupation and interval between the precursor lesions and development of tumor were not recorded. Immunohistochemistry for human papilloma virus and p53 tumor suppressor protein were not performed as these tests were not available. Conclusion: Cutaneous squamous cell carcinoma is uncommon in Indian patients and a high index of suspicion is necessary when a rapidly enlarging nodule, verrucous fungating plaque or an ulcer with everted margins develops in long standing scars and other predisposing dermatologic conditions. Histopathological examination is mandatory to confi rm the diagnosis and identify the subtype and this has prognostic implications.
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Background: Dental restorative materials containing silver–mercury compounds have been known to induce oral lichenoid lesions. Objectives: To determine the frequency of contact allergy to dental restoration materials in patients with oral lichenoid lesions and to study the effect of removal of the materials on the lesions. Results: Forty‑five patients were recruited in three groups of 15 each: Group A (lesions in close contact with dental materials), Group B (lesions extending 1 cm beyond the area of contact) and Group C (no topographic relationship). Thirty controls were recruited in two groups of 15 individuals each: Group D (oral lichenoid lesions but no dental material) and Group E (dental material but no oral lichenoid lesions). Patch tests were positive in 20 (44.5%) patients. Mercury was the most common allergen to elicit a positive reaction in eight patients, followed by nickel (7), palladium (5), potassium dichromate (3), balsam of Peru, gold sodium thiosulphate 2 and tinuvin (2) and eugenol (1), cobalt chloride (1) and carvone (1). Seven patients elicited positive response to more than one allergen. In 13 of 20 patients who consented to removal of the dental material, complete healing was observed in 6 (30%), marked improvement in 7 (35%) and no improvement in 7 (35%) patients. Relief of symptoms was usually observed 3 months after removal. Limitations: Limited number of study subjects and short follow up after removal/replacement of dental restoration materials are the main limitations of this study. Conclusion: Contact allergy to amalgam is an important etiologic factor in oral lichenoid lesions and removal of restorative material should be offered to patients who have lesions in close proximity to the dental material.
Subject(s)
Benzamides/administration & dosage , Benzamides/adverse effects , Benzamides/analogs & derivatives , Female , Humans , Lichenoid Eruptions/chemically induced , Lichenoid Eruptions/drug therapy , Lichenoid Eruptions/etiology , Middle Aged , Piperazines/administration & dosage , Piperazines/adverse effects , Prednisolone/administration & dosage , Pyrimidines/administration & dosage , Pyrimidines/adverse effects , Pyrimidines/analogs & derivativesABSTRACT
During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we have presented the very basics of genetics so as to enable dermatologists to have working understanding of medical genetics.