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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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ABSTRACT Chronic rheumatic heart disease (RHD) is the most troublesome complication of rheumatic fever. Extensive valvular scarring and ventricular remodeling due to pressure and volume overload occur in chronic RHD. Deformed valves are at potential risk for developing infective endocarditis (IE) with further systemic embolism. We hereby describe a case of a patient diagnosed with chronic rheumatic heart disease and severe ventricular dysfunction, planned for aortic valve replacement. The patient developed septic shock during a hospital stay. The autopsy revealed infective endocarditis in the aortic valve with septic thromboembolism in the peripheral branches of the coronary artery and early multifocal myocardial infarction changes.
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Papillary thyroid carcinoma with desmoid-type fibromatosis (PTC-DTF) or nodular fasciitis-like stroma (PTC-NFS) is a rare morphological variant of PTC with a favorable prognosis. There is a paucity of molecular data regarding this entity. We present the case of a 20-year-old female who presented with a palpable mass over the anterior aspect of the neck for the past 3-4 months, which was diagnosed as PTC-NFS. Ultrasonogram of the neck revealed a bulky left lobe of thyroid that contained a well-defined heterogenous lesion measuring around 24 × 26 × 36 mm with involvement of the adjacent isthmus. She underwent a total thyroidectomy with central compartment lymph node dissection. Histological examination revealed a biphasic tumor with epithelial and stromal components resembling nodular fasciitis. Two dissected lymph nodes showed metastasis of the epithelial component only. On immunohistochemistry, BRAF mutant protein expression was evident in the epithelial component only, while β-catenin was negative in both the components. The histopathological diagnosis of papillary thyroid carcinoma with nodular fasciitis-like stroma was offered. Sanger sequencing revealed a BRAFV600E (c.1799T>A, Val600Glu) mutation. Post-operatively, no residual tumor was detected on ultrasound and radioiodine scans. The patient was doing well at follow-up of 9 months. PTC-NFS/DTF is a histological variant of PTC with a favorable prognosis. Our index case was associated with the BRAF mutation, which was restricted to the epithelial component. Thorough sampling of the excised specimen is essential in order not to miss the epithelial component, which, in most reported cases (including ours) appears to be small.
Subject(s)
Humans , Female , Adult , Thyroid Neoplasms/pathology , Thyroid Cancer, Papillary/pathology , Thyroidectomy , Proto-Oncogene Proteins B-raf , beta Catenin , Fasciitis , Myofibroblasts , Lymph Node Excision , MutationABSTRACT
Hemophagocytic lymphohistiocytosis (HLH) is a multisystem disorder mediated by cytokine storm and is characterized by fever, pancytopenia and organomegaly coupled with laboratory features like hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and transaminitis. Etiology can be genetic or acquired such as infections, malignancy and autoimmune disorders. Diagnosis, identification of underlying etiology and management of HLH remain tough clinical puzzles to sort out for the managing physician. We report a clinico-pathological conference of a three-year-old boy who had such a presentation and succumbed during the hospital stay.
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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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The direct immunofluorescence (DIF) of skin in conjunction with histopathology gives the best diagnostic yield. It is invaluable in confirming the diagnosis of small vessel vasculitides and bullous lesions of the skin and can be used as an additional tool to pinpoint the diagnosis of systemic and localized autoimmune diseases involving the skin. This study was undertaken to analyze the strength of DIF vis‑à‑vis histopathology in the diagnosis of discoid lupus erythematosus (DLE) and at the same time to elaborate the specific immunofluorescence findings in the lesions of DLE. The clinical profile and cutaneous lesions of 75 patients with DLE are described. DIF was positive in 68% and histopathology in 60% of cases. The most common immunoreactant was IgG at the dermoepidermal junction, followed by IgM and IgA. A conclusive diagnosis of DLE could be achieved satisfactorily in 64 cases (85%) by a combination of the two techniques.
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Background & objectives: Bone marrow is a rich source of adult stem cells that can differentiate into various cell types. Administration of mesenchymal stem cells (MSCs) in irradiated diabetic rat model has transiently shown to decrease blood glucose level. This study examines the effect of high dose and multiple injections of MSCs on glycemic profile, their localization and regeneration of islet in diabetic Wistar rat. Methods: The study was carried out in male Wistar rats categorized into three groups (n=6, in each group): Group 1 as control, group 2 streptozotocin (STZ) (50 mg/kg) induced diabetic group and group 3 experimental group; 5-bromo-2-deoxyuridine (BrdU) labelled allogenic MSCs were injected in the non-irradiated diabetic rat of the experimental group through tail vein. The blood glucose profile was subsequently monitored at regular intervals. Rats were sacrificed on day 45 and pancreas was examined for localization of BrdU labelled stem cells by immunofluorescence and islet-neogenesis by immunohistochemistry . Results: There was a significant reduction in blood glucose level after administration of MSCs in the experimental group (p<0.001). The presence of BrdU labelled MSCs in islet suggested their localization in the pancreas. Co-expression of anti-BrdU and anti-insulin antibody indicated trans-differentiation / fusion into insulin producing cells evidenced by significant increase in total number of islet (p=0.004) and insulin positive cells (p<0.0001) in experimental group. Interpretation & conclusions: Our results showed that the MSCs administration in non-irradiated diabetic Wistar rat reduced hyperglycaemia and was accompanied by increased islet-neogenesis, possibly through trans- differentiation/fusion.