Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis - A Retrospective Chart Review of 107 Patients.

Background: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature. There is scanty epidemiologic data regarding the clinical profile and histologic patterns of inherited ichthyosis from resource-poor countries. Aims and Objectives: The study was aimed at assessing the clinic-epidemiologic characteristics associated with the different forms of non-syndromic congenital ichthyosis. Materials and Methods: This was a retrospective chart review of ichthyosis patients that presented between July 2016 and Jun 2020. Details including demographic profile, clinical characteristics along with any relevant investigations done were included. Results: During the study period of 4 years, 107 patients with congenital non-syndromic ichthyosis were seen. The most frequent diagnosis was of common ichthyoses, followed by autosomal recessive congenital ichthyosis, epidermolytic ichthyosis and erythrokeratoderma, in decreasing order. Conclusion: Important clinical findings like erythema and the type of scales as well as histological differences including an absent or reduced granular layer in ichthyosis vulgaris can help differentiate among the clinical phenotypes of inherited non-syndromic ichthyosis especially in resource-poor settings. Also, there is a high prevalence of vitamin D deficiency and hence a need for screening for the same in all patients of congenital ichthyosis including the milder phenotypes.

Agreement of Gallbladder Reporting and Data System for Gallbladder Wall Thickening at Ultrasonography: A Multireader Validation Study.

Objective: This article aims to evaluate the intrareader and interreader agreement of ultrasound (US) gallbladder reporting and data system (GB-RADS) and validate the risk of malignancy in each GB-RADS category. Materials and methods: This retrospective study comprised consecutive patients with nonacute gallbladder wall thickening who underwent US evaluation between January 2019 and December 2022. Three radiologists independently read the static US images and cine-loops for GB-RADS findings and assigned GB-RADS categories. The intraobserver (static images) and interobserver (static images and cine-loops) agreement was calculated using kappa statistics and Krippendorff's alpha. Another radiologist assigned a consensus GB-RADS category. The percentage of malignancy in each GB-RADS category was calculated. Results: Static US images of 414 patients (median age, 56 years; 288 women, benign = 45.6% and malignant = 54.4%) and cine-loops of 50 patients were read. There was weak to moderate intrareader agreement for most GB-RADS findings and moderate intrareader agreement for the GB-RADS category for all readers. On static images, the interreader agreement was acceptable for GB-RADS categories. On cine-loops, the interreader agreement for GB-RADS findings and categories was better than static images. The percentage of malignancy was 1.2%, 37%, 71.1%, and 89.1% in GB-RADS 2, 3, 4, and 5 categories. Conclusion: GB-RADS has moderate intrareader for GB-RADS categories. As originally proposed, the risk of malignancy is negligible in GB-RADS 2 category and highest in GB-RADS 5 category. However, the discriminatory performance of GB-RADS 3 and 4 categories is low. Larger multicenter studies with more readers must assess the reader agreement and validate the GB-RADS systems for wider clinical utilization.

Sonographic "Cervix Sign": A New Ancillary Sign of Gallbladder Neck Malignancy.

Background: The differentiation of benign and malignant gallbladder wall thickening is challenging. The purpose of this study is to evaluate a new sonographic sign, "cervix sign" for differentiation of benign and malignant gallbladder neck thickening. Methods: This retrospective study comprised consecutive patients with gallbladder neck thickening who underwent sonography between August 2019 and December 2021. The presence of "cervix sign" was assessed by two radiologists independently. Results: Sixty-five patients had gallbladder neck thickening (28 malignant and 37 benign). The sonographic "cervix sign" was present in 18 (64%) patients with malignant thickening and in only one (2.7%) patient with benign thickening (P = 0.0001). The mean wall thickness was greater, and symmetric wall thickening and liver metastases were more common in malignant thickening with "cervix sign" (without reaching statistical significance). There was substantial agreement (kappa = 0.78) between the two observers for the cervix sign. Conclusion: Sonographic "cervix sign" is a useful ancillary feature of gallbladder neck cancer.

Association of CT Findings With Perineural Invasion in Gallbladder Cancer: Preliminary Assessment.

Perineural invasion (PNI) indicates a worse prognosis for patients with gallbladder cancer (GBC). This preliminary retrospective study included 19 patients with GBC who under-went contrast-enhanced CT in the 4 weeks before undergoing surgical resection. GBC showed PNI on pathologic assessment in eight of 19 patients. On CT, wall thickening morphology had sensitivity of 75.0% and specificity of 81.8% for PNI; soft-tissue stranding around the celiac plexus had sensitivity of 62.5% and specificity of 100.0% for PNI.

DRESS syndrome due to first-line antitubercular therapy - A diagnostic imbroglio!

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome after the use of first-line antitubercular drugs (ATDs) is rare and literature regarding DRESS syndrome due to ATDs is scarce in children. We report a young boy with tuberculosis who developed DRESS syndrome after exposure to isoniazid. A 9-year-old boy, diagnosed clinically as pulmonary tuberculosis, presented with fever, fast breathing, maculopapular rash, and one episode of gross hematuria. He had been on 4-drug ATD therapy (isoniazid, rifampicin, ethambutol, and pyrazinamide) for the past 4 weeks. In view of multiorgan involvement and absence of a microbiological diagnosis of tuberculosis, vasculitis was considered and he was treated with steroids. As the child recovered, both corticosteroids and ATD therapy were stopped. At 6 months of follow-up, he was presented with pneumonia. Microbiological diagnosis of tuberculosis was made and 4-drug ATD therapy was reinitiated. After 15 days, he again developed a high-grade fever and rash. On evaluation, isoniazid-induced DRESS syndrome was diagnosed. Subsequently, he received a modified regimen of ethambutol, pyrazinamide, levofloxacin, and linezolid. DRESS syndrome did not recur on these ATDs and the child became asymptomatic. Linezolid was stopped after 3 months of therapy and ethambutol, pyrazinamide, and levofloxacin are being continued. Currently, he has completed 15 months of modified ATD therapy. As a high index of suspicion is required for early diagnosis and management that are crucial to reducing morbidity and mortality, DRESS syndrome should be among the differentials in children with unexplained febrile illnesses.

Neuroendocrine carcinomas: Cytological mimics and diagnostic dilemmas.

BACKGROUND: Neuroendocrine carcinomas (NEC) are rare tumours with multiple morphologic mimics. The cytologist may miss these cases if not aware. AIMS AND OBJECTS: We focused upon the clinical presentation, cytological features and problems in the diagnosis of NEC. MATERIALS AND METHODS: We studied the detailed cytomorphology of 19 cases of NEC (histopathology proved). RESULTS: Of these 19 cases of NEC, 15 cases constituted fine needle aspiration (FNA) specimens, one transbronchial needle aspiration specimen, two pleural fluid specimens and a single biliary brushing specimen. All of the FNA specimens were from extra-pulmonary sites (namely, breast, pancreas, liver and three lymph node FNAs). Eight of the 19 cases (42.1%) showed a significant disparity between cytological and histopathology diagnoses. The break-up of discordant diagnoses are of adenocarcinoma (three cases), Ewing's sarcoma (one case), infiltrating ductal carcinoma (one case), lymphoma (one case), and squamous cell carcinoma (two cases). The cytology of NECs predominantly showed discrete, round to oval cells with a moderate amount of cytoplasm. The nuclei were pleomorphic, having prominent nucleoli. Occasional cases showed characteristic salt and pepper chromatin and were correctly diagnosed as a neuroendocrine group of tumours. CONCLUSION: The accurate diagnosis of NEC depends on clinical correlation, meticulous screening for any obvious neuroendocrine features and cell block morphology. Immunohistochemistry is essential for ruling out of tumours of neuroendocrine origin. A Ki67 index is mandatory for grading of all neuroendocrine tumours.

Upper Urinary Tract Adenocarcinoma Arising in Tubular Adenoma-A Rare Entity: Report of 2 Cases and Review of Literature.

Tubular adenoma of the urinary tract is a recently recognized entity, and there is a paucity of clinicopathological information. We describe 2 rare cases of adenocarcinoma of upper urinary tract arising in the background of tubular adenoma with high-grade dysplasia. The first case was an extremely uncommon combination of multifocal tubular adenomas involving ureter and renal pelvis and adenocarcinoma of kidney in a patient with renal calculi. The second case was of adenocarcinoma of kidney arising from tubular adenoma of renal pelvis in the right moiety of horseshoe kidney. There was no microsatellite instability. These findings indicate, probably, an adenoma-carcinoma pathway is also followed in the urinary tract similar to the gastrointestinal tract. To the best of our knowledge, no such observations are reported in the English literature previously.

Metastatic Crohn Disease: A Clinicohistological Appraisal From a Tertiary Care Center in India.

BACKGROUND: Granulomatous dermatitis due to noncontiguous involvement of Crohn disease (CD) of the gut has been described as metastatic CD (MCD). MCD is the rarest form of cutaneous manifestations of CD. This study aims to analyze the clinicohistological features of MCD in a tertiary care center of India. MATERIALS AND METHODS: A retrospective review of patients diagnosed clinically and histologically with MCD over past 5 years was performed. Data on cutaneous features, histological findings, and response to treatment were collected. RESULTS: Twelve patients (3 men and 9 women) with a mean age of 29 years were identified. All women had vulval involvement in the form of edema (80%), ulceration (60%), and fistula (20%). Among the 3 men, 2 had perineal and scrotal swelling and ulcer, whereas the third patient presented with leg ulcer. Intestinal CD was already diagnosed in 50% patients (5/10) at cutaneous presentation, whereas it was diagnosed subsequently in 30% (3/10) cases. Histological examination revealed nonnecrotizing granulomatous inflammation in the dermis in 11 patients (92%). Additional histological features included eosinophilic infiltrate (58%), panniculitis (33%), and vasculitis (33%). The patients were treated with various combinations of oral prednisolone, metronidazole, minocycline, azathioprine, and subcutaneous adalimumab with partial relief. CONCLUSION: MCD shows a wide spectrum of clinical presentation, with anogenital involvement being the most common. Histology reveals nonnecrotizing granulomas in the dermis in majority of the cases. The diagnosis is extremely challenging in patients without gastrointestinal involvement at presentation, and thus, a high index of suspicion is imperative.

Acute Pancreatitis Caused by Isolated Pancreatic Metastasis From Uterine Choriocarcinoma.

Choriocarcinoma is an aggressive gestational trophoblastic neoplasia known for its widely metastatic potential. However, isolated pancreatic metastasis is an extremely rare occurrence and has not been documented in the English literature to the best of our knowledge. The metastatic deposits in the index case led to widespread hemorrhage and necrosis of the pancreatic parenchyma, causing severe acute pancreatitis. The patient succumbed to her illness before chemotherapy was administered. Thus, we present an autopsy case of a uterine choriocarcinoma with isolated pancreatic metastasis presenting as severe acute pancreatitis in a 27-yr-old woman following a molar pregnancy.

Caruncular Oncocytoma: Report of Two Cases with Review of Literature.

Caruncular lesions are uncommon and could be related to hair follicles, sebaceous glands, sweat glands, and accessory lacrimal gland harbored in caruncle. As the lesions of caruncle are diverse, the clinical diagnosis is difficult. Majority of the caruncular lesions are benign although rare malignant lesions have also been reported. Caruncular oncocytoma (CO) is a rare ocular neoplasm with an incidence of <3%, as per the Western literature. However, only two cases of ocular oncocytoma are reported in the Indian literature. Here, we report two more cases of CO from India with their histochemical and ultrastructural characteristics.

A prospective study of the epidemiological and clinical patterns of recurrent dermatophytosis at a tertiary care hospital in India.

BACKGROUND: Recurrent and clinically unresponsive dermatophytosis is being increasingly encountered in our country. It runs a protracted course with exacerbations and remissions. However, there is little information regarding the extent of the problem and the characteristics of recurrent dermatophytosis in published literature. AIMS: We sought to determine the prevalence, risk factors and clinical patterns of recurrent dermatophytosis in our institution. We also investigated the causative dermatophyte species and antifungal susceptibility patterns in these species. METHODS: One hundred and fifty patients with recurrent dermatophytosis attending the outpatient department of the Postgraduate Institute of Medical Education and Research, Chandigarh, India were enrolled in the study conducted from January 2015 to December 2015. A detailed history was obtained in all patients, who were then subjected to a clinical examination and investigations including a wet preparation for direct microscopic examination, fungal culture and antifungal susceptibility tests. RESULTS: Recurrent dermatophytosis was seen in 9.3% of all patients with dermatophytosis in our study. Trichophyton mentagrophytes was the most common species identified (36 patients, 40%) samples followed by T. rubrum (29 patients, 32.2%). In-vitro antifungal susceptibility testing showed that the range of minimum inhibitory concentrations (MIC) on was lowest for itraconazole (0.015-1), followed by terbinafine (0.015-16), fluconazole (0.03-32) and griseofulvin (0.5-128) in increasing order. LIMITATION: A limitation of this study was the absence of a suitable control group (eg. patients with first episode of typical tinea). CONCLUSION: Recurrence of dermatophytosis was not explainable on the basis of a high (MIC) alone. Misuse of topical corticosteroids, a high number of familial contacts, poor compliance to treatment over periods of years, and various host factors, seem to have all contributed to this outbreak of dermatophytosis in India.

A prospective study to validate various clinical criteria used in classification of leprosy: a study from a tertiary care center in India.

BACKGROUND: Various clinical criteria are used to categorize leprosy patients into paucibacillary (PB) and multibacillary (MB), thus aiding in appropriate treatment. However, comprehensive studies validating these criteria are minimal. AIMS: To assess sensitivity and specificity of different clinical criteria individually and in combination for classifying leprosy into PB/MB spectrum. METHOD: A prospective study was conducted wherein 50 newly diagnosed, untreated leprosy cases were recruited and classified into PB and MB using the following clinical criteria: number of skin lesions (NSL), number of body areas affected (NBAA), and size of largest skin lesion (SLSL). Patients with pure neuritic leprosy, diffuse macular type of lepromatous leprosy, and with reactions were excluded. Sensitivity and specificity of these clinical criteria in classification was calculated taking histopathological findings as gold standard. RESULTS: Among 50 patients, 37 were males and 13 were females with a mean age of 32.08 ± 16.55 years. The sensitivity and specificity of NSL, NBAA, and SLSL was 94.74 and 87.1%, 94.74 and 61.29%, and 73.68 and 16.13%, respectively. Combining all three criteria, the sensitivity increased to 100%, but specificity decreased drastically to 12.9%. The ROC curve for NSL, NBAA, and SLSL showed a cutoff of ≥6 skin lesions, ≥3 body areas affected, and ≤2 cm lesion to classify as MB. CONCLUSION: The current WHO system of leprosy classification based on NSL seems to be best among available clinical criteria. Uniform and sensible application of this criteria itself assures appropriate categorizing and leprosy treatment with reasonable sensitivity and specificity.

Correlation of vitamin D and vitamin D receptor expression in patients with alopecia areata: a clinical paradigm.

BACKGROUND: Vitamin D (Vit.D) deficiency has been reported in alopecia areata (AA). Downregulation of Vitamin D receptor (VDR) on hair follicles is associated with reduced hair growth. OBJECTIVE: To correlate serum Vit.D levels with severity, pattern, and duration of AA, and density of VDR expression over hair follicles in AA patients. METHODS: Prospective study including 30 AA patients and 30 healthy controls. Clinical details and serum Vit.D measurement and scalp biopsy for histopathology and VDR expression was performed in patients and controls at baseline and after 6 months of treatment of AA. RESULTS: Mean age of patients and controls was 28.9 ± 9.96 and 31.17 ± 9.43 years, respectively. Mean SALT score in patients was 35.8 ± 27.5 with a median disease duration of 48 weeks. Mean serum Vit.D levels was 7.65 ± 4.50 ng/ml and 15.8 ± 11.47 ng/ml in patients and controls, respectively. Twenty-nine (96.7%) patients were Vit.D deficient (<20 ng/ml), compared to 22 (73.3%) controls (P = 0.001). Serum Vit.D levels inversely correlated with severity of the disease (r = -256), P = 0.17, and duration of disease but did not correlate with pattern of AA and VDR expression in tissue samples. VDR expression was reduced in all patients and was normal in controls. Inverse correlation of VDR was noted with presence of inflammation on histology (P = 0.02). VDR upregulation post treatment was seen only in 13% of patients and demonstrated no correlation with response to treatment. CONCLUSION: Vit.D deficiency in AA correlates inversely with disease severity and duration. VDR expression is reduced in AA and inversely correlate with inflammation histologically but does not correlates with serum Vit.D levels, severity, pattern, or duration of illness.