Care Hospital In Eastern India Research Articles

Clinicoetiological Profile of Meningitis Cases in HIV-infected Patients Admitted at a Tertiary Care Hospital in Eastern India

Clinicoetiological Profile of Meningitis Cases in HIV-infected Patients Admitted at a Tertiary Care Hospital in Eastern India

Hypophosphatemia in Chronic Obstructive Pulmonary Disease Patients Requiring Mechanical Ventilation and Its Impact on Weaning in an Intensive Care Unit of a Tertiary Care Hospital in Eastern India.

Background Hypophosphatemia, defined as a serum phosphate level less than 2.5 mg/dL, is a frequent finding in patients with chronic obstructive pulmonary disease (COPD) and has been speculated to negatively affect weaning outcomes. This study aimed to determine the incidence of hypophosphatemia in COPD patients requiring mechanical ventilation and evaluate the predictive role of hypophosphatemia as an indicator of successful weaning from mechanical ventilation in such patients admitted to the intensive care unit (ICU) in a tertiary care hospital in eastern India. Methodology This prospective observational study included 60 adult patients aged 18 to 75 years with acute exacerbations of COPD on mechanical ventilation in the ICU who were planned to undergo a weaning trial. Serum phosphate levels were assessed at the time of admission and before each weaning attempt. Weaning outcomes at each attempt, length of ventilator and ICU stay, and mortality were recorded. Data collection was initiated after approval of the Institutional Ethics Committee. Receiver operating curve (ROC) analysis was done to identify the cut-off value of serum phosphate which predicted successful weaning. Results Of 60 participants, hypophosphatemia on admission was present in 15 (25%) patients. Despite the correction, 13 (21.7%) patients had hypophosphatemia before the first weaning attempt. Only 22 patients out of 60 were successfully weaned off from mechanical ventilation in the first trial, accounting for a success rate of 36.7%, of whom 20 were normophosphatemic (90.9%). In the second and third weaning trials, hypophosphatemia was significantly associated with weaning failure. Overall differences in mean serum phosphate levels among those who failed to wean in each weaning trial and the successful attempt were statistically significant (p < 0.001). On ROC analysis of serum phosphate level before the first weaning trial, a cut-off value of ≥3.0 mg/dL was identified to have 86.4% sensitivity, 55.3% specificity, 52.8% positive predictive value, 87.5% negative predictive value, and 66.7% diagnostic accuracy in predicting weaning success. Five patients died, accounting for a mortality rate of 8.3%. Lower mean serum phosphate levels before the first weaning trial, higher mean age, and longer ventilator and ICU days were significantly associated with mortality among our study participants (p < 0.05). Conclusions Our findings suggest that maintaining normal serum phosphate levels is critical to successfully weaning off patients with COPD from ventilator support.

Association of atherogenic cardiac index and markers of oxidative stress in non-diabetic dyslipidemia stroke patients in a tertiary care hospital in Eastern India

Background: Stroke is a clinical syndrome consisting of rapidly developing clinical signs of focal or global disturbance of cerebral function. Antioxidants are exogenous or endogenous compounds acting by scavenging reactive oxygen species or their precursors, inhibiting reactive oxygen species formation and binding metal ions needed for the catalysis of its generation. Atherogenic index, a predictor of atherosclerosis, increases in dyslipidemia also shows a positive association with oxidative stress. Aims and Objectives: Our objective was to compare the lipid profile, the markers of lipid peroxidation (malonaldehyde and paraoxonase [PON]), and atherogenic index in non-diabetic stroke patients with healthy controls and to evaluate the correlation between the lipid parameters with markers of lipid peroxidation and atherogenic index in those patients. Materials and Methods: One hundred diagnosed stroke patients from the Neurology department were compared with 100 age-matched healthy controls. Estimation of lipid profile parameters was done by AutoAnalyzer using standardized kits. Estimation of serum malonaldehyde was done based on the principle of utilization of Thiobarbituric acid. Serum PON1 activity was estimated using paranitrophenyl acetate substrate. Results: Among the lipid profile parameters, high-density lipoprotein (HDL) was significantly lower (P&lt;0.001) and low-density lipoprotein (LDL) was significantly higher among stroke patients. Serum malonaldehyde level was significantly increased and PON1 activity was significantly decreased in stroke patients in comparison to healthy individuals. A significant positive correlation between HDL and PON1 and a negative correlation between LDL and PON1 were found. Atherogenic index is negatively correlated with PON1. Conclusion: Low level of PON1 activity and an increased level of malonaldehyde were found in stroke patients indicating an imbalance between free radical generation and its scavenging action and also associated with more chance of atherosclerosis.

Clinical profile of children with metabolic liver diseases presenting in a tertiary care hospital of Eastern India

Clinical profile of children with metabolic liver diseases presenting in a tertiary care hospital of Eastern India

Evaluating the Association Between Iron Deficiency Anemia and Febrile Convulsion Among Children Aged 6-60 Months Admitted to a Tertiary Care Hospital in Eastern India: A Case-Control Study.

Background and objective Anemia, particularly iron deficiency anemia (IDA), presents a significant global health challenge, particularly among children under the age of five years in developing nations. Concurrently, febrile convulsions (FC) affect up to 5% of neurologically healthy children aged 6-60 months, causing considerable distress among parents. There is a suggested correlation between fever and iron deficiency, which may exacerbate neurological risks, potentially lowering seizure thresholds and increasing the risk of FC. However, studies investigating the relationship between IDA and FC have shown conflicting results. In light of this, this study aimed to explore this relationship among children aged 6-60 months in Eastern India, an area where this association has yet to be thoroughly investigated. Materials and methods Thecase-controlstudy included children aged 6-60 months. The cases consisted of children presenting with FC, while controls comprised children in the same age group presenting with febrile illness but without seizures. Informed consent was obtained, a detailed history was taken, and clinical examinations were conducted for both groups. Blood investigations were performed to diagnose IDA according to WHO criteria: hemoglobin <11 gm/dl with the classical triad of low mean corpuscular volume (MCV), low mean corpuscular hemoglobin (MCH), and low mean corpuscular hemoglobin concentration (MCHC) for age. Data analysis was performed using the R-based software Jamovi 2.4.8. with appropriate statistical tests. Results We included 81 cases and 80 controls. The study found a statistically significant association between IDA and FC with an odds ratio (OR) of 2.25 [95% confidence interval (CI): 1.03-4.91; p=0.039]. Additionally, the study revealed that hemoglobin levels, MCH, MCV, and MCHCwere lower among cases compared to controls, while the red cell distribution width (RDW) washigher. Both these findings regarding RBC indices were statistically significant(p<0.05). Conclusions Our findings indicate a statistically significant association between IDA and FC among children under five years of age. Implementing measures to prevent IDA and strengthening existing strategies may help alleviate the burden of FC in this vulnerable population.

A Study on Travel-associated Febrile Illness among Patients Attending a Tertiary Care Hospital in Eastern India

A Study on Travel-associated Febrile Illness among Patients Attending a Tertiary Care Hospital in Eastern India

Linear IgA bullous dermatoses in an Indian child with IgG predominance: a unique case report from a tertiary care hospital of Eastern India

Linear IgA bullous dermatoses in an Indian child with IgG predominance: a unique case report from a tertiary care hospital of Eastern India

A risk factor analysis of length of hospital stay in thyroid surgeries: An experience from a tertiary care hospital of Eastern India

Abstract Background: Thyroid surgeries are one of the common surgical procedures worldwide, carried out by a range of board-certified physicians with backgrounds in general surgery, endocrine surgery, otolaryngology, thoracic surgery, head and neck surgery, and oncology. The length of hospital stay in these surgeries has not been extensively studied. The purpose of the study was to find out the factors determining the length of hospital stay in thyroid surgeries. Materials and Methods: One hundred and seven adult patients operated between January and December of 2021 were included in the study. Data were collected retrospectively from medical records using a data extraction form after getting Institutional Ethics Committee approval. Data were analyzed using Epi Info software, with a P &lt; 0.05 taken as statistically significant. Results: The mean age of the participants was 33.6 ± 9.7 years, females (67.2%) outnumbered males. The mean duration of hospital stay was 10.55 ± 4.32 days; the length of hospital stay saw an increasing trend with the increasing age (10.89 days), male sex (11 days), those who had postoperative complications (11 days), and total thyroidectomy (15 days). Those who delayed in seeking healthcare (10 days–1 month) also reported a longer hospital stay. Conclusion: In this study, increasing age, male sex, underweight patients, patients from rural areas, those with lower educational status, and unemployed were found to have a longer hospital stay. Other factors which were seen to be associated with longer hospital stays were those undergoing total thyroidectomy, having associated complications, and delay in health-seeking behavior.

Prevalence of Subclinical Hypothyroidism in Untreated PCOS Patients and PCOS Patients on Metformin at a Tertiary Care Hospital of Eastern India

Prevalence of Subclinical Hypothyroidism in Untreated PCOS Patients and PCOS Patients on Metformin at a Tertiary Care Hospital of Eastern India

Outbreak analysis of meningococcal meningitis: A case series from a tertiary care hospital in Eastern India

In a span of 4 months, there were 7 cases of meningococcal meningitis who presented with diagnostic dilemma and also a few atypical manifestations. A retrospective data analysis was carried out in children diagnosed with meningococcal meningitis who were admitted from October 2022 to January 2023. There were 7 confirmed cases of Neisseria meningitidis infections during the study period. The median age of presentation was 6 years (range: 4.5 months–9 years) with four males and three females. All the children presented with fever, but none had signs of meningeal irritation as such. Routine blood and cerebrospinal fluid (CSF) analysis were also near normal. Reverse transcriptase polymerase chain reaction (RT-PCR) for N. meningitidis was positive in the CSF samples of all the seven cases. All of the patients recovered completely, except that there were residues of neurodeficit in one patient. In endemic areas, pediatricians should have a low threshold of suspicion for N. meningitidis in children presenting with signs and symptoms involving the central nervous system and consider an RT-PCR of the CSF sample even if routine blood and CSF studies are near normal.

Clinicopathological study of pigmented fungal lesions with special reference to subcutaneous phaeohyphomycosis: A 3-year study in a tertiary care hospital of Eastern India

Background: Fungal infections are predominantly opportunistic infections in immunocompromised patients and in immunocompetent adults with a history of trauma. Recently, there is an increase in trends of fungal infections in immunocompetent individuals also without any history of trauma. Pigmented fungi are a group of fungi that have pigment in their cell wall and also known as dematiaceous fungi. These pigmented fungi include phaeohyphomycosis with a differential diagnosis of chromoblastomycosis, cryptococcosis, mycetoma, and aspergillus. Phaeohyphomycosis is a subcutaneous or systemic infection characterized histologically by dark-colored fungal hyphae and yeast forms (black yeast). Aims and Objectives: The aim of the present study is to analyze the clinicopathological features of pigmented fungal infections in biopsy specimen based on their histomorphology. Materials and Methods: This was a prospective study in which we have analyzed the dematiaceous fungal species by their histomorphological characteristics in biopsy specimens. Results: A total of 21 cases of biopsy specimens (with the clinical presentation of cutaneous/subcutaneous lesions) were studied histologically which showed 13 cases of phaeohyp homycosis, seven cases of eumycotic mycetoma, and one case of chromoblastomycosis. There was male predominance (17, 80.95%) and the majority of the patients were &gt;60 years (16, 76.19%). Most common site of infection was foot with predominant clinical presentation as subcutaneous mass lesion. Conclusion: All the cases of dematiaceous fungal infections were diagnosed by histopathological examination. Melanin in the cell wall of dematiaceous fungi is the pathogenic factor. Phaeohyphomycosis is no longer considered as a rare infection rather there is an increasingly incidence of recognized infection. Although culture and histopathological study remain important tools for final diagnosis, various molecular studies might be helpful for accurate diagnosis.

Benchmarking institutional geriatric hip fracture management: a prelude to a care quality improvement initiative.

Fractures around the hip in older adults have increased in the last two decades, and the numbers are projected to rise over the next 30years with estimates that half of them will occur in Asia. Proximal hip fractures should be operated within 48h of injury to prevent poor outcomes. This study aims to benchmark current hip fracture care using quality improvement tools of care structure, care processes, and outcomes in a tertiary care hospital in Eastern India and determine the evidence-practice gaps and barriers to implementing the six best practices that reduce mortality and morbidity in fragility hip fractures. A total of 101 consecutive patients above 50years of age with proximal femoral fractures after a trivial fall were included. Patients were divided into two groups: those operated within [Group A] and beyond [Group B] 72h of admission. Care structure assessment included delays in admission, delay in surgery, and anesthesia risk grading. Care processes included the type of surgery performed and postoperative complications. The primary outcomes were the 30-day and 1-year mortality and the secondary outcomes included the length of stay, mobility at 6 months, return to pre-fracture independence, activity limitations, pressure sores, and readmission to the hospital. Group A comprised 26 individuals, and the remaining 75 were in Group B. There were two deaths in Group A as compared to one death in Group B at 30days; however, there were no new deaths at 1year in Group A and 14 deaths in Group B (p = 0.187). Group B had lengthier hospital stays, poorer mobility, and higher physical and mental difficulties. No patients had re-operation on the initial fracture. This study emphasizes the importance of early admission and fast provision of surgical fixation to reduce mortality and morbidity. Benchmarking institutional practices allows for defining the evidence-practice gaps and barriers to best practice implementation. This is an essential step to begin care quality improvement for geriatric patients with proximal femur fragility fractures.

Clinical Profile of Triple-Negative Breast Cancer: A Hospital-Based Study.

Introduction Triple-negative breast cancer (TNBC) is a new concept and an important area of investigation. In Western country's literature, different studies reported on TNBC and all indicated the poor prognostic aspect of this molecular subtype over other types of breast cancer.However, there is a scarcity of comprehensive data from India. Hence, the present study was carried out to look at the epidemiological and clinical characteristics of TNBC in the Indian population. Methods The present study was performed between January 2020 and June 2021 at a tertiary care hospital in Eastern India. A total of 150 patients with TNBC were enrolled in the study. The epidemiological and clinical features of enrolled patients were collected and reviewed. Results The median age of patients at TNBC presentation was 45.53 years (24 to 74 years). The median tumor size was reported to be 5.32 cm. Of 150 patients, 94(62.67%) showed enlarged lymph nodes and 56 (37.33%) patients had no lymph node enlargement. In the present study, 85 (56.67%)patients were in the pre/perimenopausal stage at presentation, whereas 65 (43.33%) patients were in the postmenopausal stage.Upon evaluating the spread of TNBC, it was observed that a maximum of patients 60 (40%) were at the T4 stage and 56 (37.33%) at the N0 condition. The clinical staging of TNBC reported a maximum of 74 (49.33%) patients at the IIA, and IIB stages followed by 53 (35.33%) patients at the IIIA, IIIB, and IIIC stages and a minimum of 11 (7.33%) patients at stage IV. Only five (3.33%) patients were reported with a family history of breast cancer.Of all patients, 126 (84%) had detected early breast cancer thereby applicable for surgery at the time of presentation, whereas 71 (47.33%) patients were eligible for radiation therapy and 138 (92%) patients received chemotherapy. A total of 112 (74.67%) patients were found alive after 24 months of follow-up, 22 (4.67%) patients were observed with remission, and 11 (7.33%) patients died due to TNBC progression. During the course of follow-up, five (3.33%) patients were lost in the study. Conclusion TNBC is an aggressive malignancy that has a high risk of systemic relapses in the first two years after diagnosis. For more mature evidence on TNBC, longer follow-up of patients is necessary.

Experiences of “Antara”: The Injectable Contraceptive in Rural Indian Women Presenting to a Tertiary Care Hospital of Eastern India

Experiences of “Antara”: The Injectable Contraceptive in Rural Indian Women Presenting to a Tertiary Care Hospital of Eastern India

Short time (10 min) Catheter Traction Following TURP: IS it helpful with less morbidity?

Transurethral Resection of Prostate (TURP) is the most common treatment for Benign Prostatic Hyperplasia (BPH). Blood loss during and after transurethral resection of the prostate (TURP) is a potential cause of morbidity and clot retention. Usual practise is to apply traction in every case of TURP to reduce early postoperative hematuria and clot retention. There are very few studies in the literature and they have mainly concentrated on the effect of traction on reducing blood loss but there is scanty data regarding the morbidity associated with the use of traction. Various authors have described their method of traction application. So, in this study, we will compare the result of short term (10 min) traction with standard (4-6 h) traction. It is a prospective comparative study with 50 participants, conducted at the department of Urology of a tertiary care hospital in eastern India after taking ethical clearance and consent from the patient. The patients attending urology O.P.D. with LUTS and diagnosed as BPH and planned for elective TURP and who had prolonged traction after TURP were excluded. Study period was one and the half year. Post operatively 25 patients were managed with catheter traction while 25 patients were managed with short term traction of 10 min. Pain which is assessed by visual analog scale (VAS) at 2 and 4 h post operatively is statistically significant with p value of <0.05 and cut off of 65 g prostate volume is drawn below which the successful outcome of short term traction is feasible without any complications. If hemostatsis is done properly then short term traction is preferable, safe and had fewer complications for prostate volume <65 g in comparison to standard traction TURP comparing the overall factors. Although, VAS score at 2 and 4 h post operatively shows patient experienced less pain even in prostate volume >65 g.

Juvenile Myelomonocytic Leukemia – Experience from a Tertiary Care Hospital in Eastern India

Background: Juvenile myelomonocytic leukemia (JMML), previously known as juvenile chronic myeloid leukaemia, is a rare, unique, and aggressive myeloproliferative neoplasm of early childhood. Making a diagnosis of JMML is challenging because of the overlapping clinical and haematological features with other myeloproliferative neoplasms (MPN). However, some unique features like monocytosis, the absence of BCR-ABL translocation, and the presence of specific mutations (PTPN-11, K-RAS, N-RAS, CBL, or NF1) clinch the correct diagnosis.Methods: A prospective analysis of six JMML patients with variable clinical features treated with injection azacytidine as frontline therapy during the study period of 2 years. Results: The median age was 4.5 years with male:female ratio 2:4. Pallor and splenomegaly were the most common presenting signs. Four patients (66.67%) achieved complete remission (CR), two patients (33.33%) had partial remission (PR), and one patient (16.67%) had progressive disease (PD). The overall survival rate was 66.67% (four out of six), and the mortality rate was 33.33%.Conclusion: Azacitidine is an effective treatment option as upfront therapy for JMML, especially in resource poor developing countries.

Assessment of prevalence of hyperprolactinemia in patients taking antipsychotic drugs in a tertiary care hospital in eastern India

Background: Researches done over different parts of the world show that hyperprolactinemia in psychotic patients is dependent on many factors such as age, gender, any thyroidal abnormality, drugs such as antipsychotics or antidepressants, psychological stress, and genre of psychosis. In patients taking antipsychotic treatments, prolactin blood levels may rise up to 10 times the normal values. It is very important to differentiate between prolactin-secreting tumor in pituitary and antipsychotic-induced hyperprolactinemia. There has been fewer researches on this topic in Eastern India, so it aims to properly estimate the amount of prolactin rise; a patient has to face after taking anti-psychotic medications and might also help the psychiatrists to adjust the dosage of anti-psychotics or to add some other drugs to lower the prolactin level along with the anti-psychotics in Eastern India. Aim and Objectives: The aims and objectives of the study are to estimate serum prolactin in diagnosed psychiatric patients taking antipsychotic drugs for at least 3 months and to study the difference in serum prolactin between recently diagnosed psychiatric patients taking antipsychotic drugs for at least 3 months and age and gender-matched mentally healthy patients without any psychiatric complication and without any history of in taking antipsychotic drugs. Materials and Methods: The study was conducted over a period of 4 months at Central Laboratory, Dept of Biochemistry, MCK. Before the conduct of the study, informed consent was taken. Patients diagnosed with psychiatric illness and consuming at least one antipsychotic drug for at least 3 months were enrolled after going through inclusion–exclusion criteria. Serum prolactin was measured with help of CLIA (ADVIA CENTAUR). Results: As per our study done in Eastern Indian population, in the female group of psychiatric patients (aged between 18 and 45 years) taking antipsychotics, the prolactin level was 23.6 ± 4.5 ng/ml, and in age-matched control female group, prolactin level was 9.2 ± 3.1 ng/mL, the difference is statistically significant (P &lt; 0.001). Moreover, in male psychiatric patients (aged between 18 and 45 years) taking antipsychotics, the prolactin level was 14.3 ± 1.7 ng/mL, and in age-matched control male group, prolactin level was 8.5 ± 1.5 ng/mL, the difference is statistically significant (P &lt; 0.001). Conclusion: As per our study, psychiatric patients of both gender taking antipsychotic drugs had higher serum prolactin level than age and gender-matched mentally healthy persons not taking antipsychotic drugs. Though the limitation of this study was small sample size and another issue that must be taken into consideration is the fact that prolactin levels can also be dependent of menstrual cycles in women, and in our study, there were 40 (57%) females who were still menstruating.

Suicide Attempt by Hanging - A Study on Patients Admitted in Tertiary Care Hospital in Eastern India.

Suicide is defined as a fatal self-injurious act with some evidence of intent to die. Despite the evolution of sophisticated methods to commit suicide, hanging remains one of the commonest methods to commit suicide across the world. To evaluate the individuals using hanging as a method of suicide and identify the contributing factors for this behaviour. The study was carried out in a tertiary care hospital, over a period of 1 year on the suicide attempters using the method of hanging. Semi-structured in-depth interviews were conducted with all the 46 attempters. The questions focused on the precipitating events present before the attempt. After the in interview the risk factors of the conversations were identified, tabulated and categorized using descriptive analysis. Findings from descriptive analysis reveals that significant age group using this method was below 19 years followed by 20-29 age group, female attempters were more compared to male. Psychiatric diagnosis was present in 8 attempters and 4 attempters had alcohol/substance dependence. The most common personality component in attempters was impulsivity. The most common immediate stressor found were financial stress, conflict with family, spouse, humiliation, substance abuse, exam stress and domestic violence. This study demonstrates that the reasons for suicide attempt by hanging is multifactorial. which includes, psychiatric diagnosis, personality factors, immediate stressors, ease of use, and accessibility, Overall, our study adds to understanding the intricates of this method and will help in developing effective suicide prevention strategies.

Comparative assessment of beta-2 microglobulin as predictor of progression of multiple myeloma in asymptomatic and symptomatic multiple myeloma patients in a tertiary care hospital in Eastern India

Background: Multiple myeloma (MM) is a clonal late B-cell disorder in which malignant plasma cells expand and accumulate in the bone marrow and is associated with paraprotein production, bone lesions, anemia, hypercalcemia, susceptibility to infections, and renal impaired. Beta-2 microglobulin (B2M) is a serum marker of tumor burden in lymphoid malignancies, including MM. The purpose of this study was to find whether increased B2M levels can predict the progression of MM from asymptomatic to progressed symptomatic phase, as it is a less invasive and cost-effective method than the more invasive and costly ones to predict the progression of the disease. Aims and Objectives: This study was taken in a medical college, Kolkata, 50 asymptomatic Stage 1 MM patients were taken along with age and gender-matched 50 symptomatic progressed MM patients, blood samples of both groups were evaluated to estimate the difference in serum B2M (SB2M) level in both groups. Moreover, to study the difference in serum albumin, C-reactive protein, creatinine, immunoglobulin (IG), total protein, calcium, hemoglobin, and percentage of plasma cells in both groups and also their correlation with SB2M level in the progressed disease group. As well as to assess if there is increased B2M in the progressed disease group and if the B2M level correlates with the disease severity (i.e. progression of the disease). Materials and Methods: An observational descriptive non-interventional, hospital-based study conducted at central laboratory, medical college, Kolkata, for 6 months. Patients were chosen by systematic random sampling. Fifty asymptomatic MMs were chosen according to the International Myeloma Working Group criteria and out of 50 patients in the progressed disease group, 75% of patients were in Stage III and 25% of patients were in Stage II according to the Salmon and Durie system. Results: More than 80% in the progressed and symptomatic group had β-2M &gt;3.5 mg/L. Whereas in the newly diagnosed group, all the 50 patients had their β-2M level &lt;3.5 mg/L. Moreover, B2M value in the blood of progressed MM patients was found to be positively correlated with percentage of plasma cells from bone marrow, serum creatinine level, serum protein level, serum calcium level, and IgG level and negatively correlated with Hb level and serum albumin level. Hence, in a nutshell, increased B2M level was found in the progressed MM group, and its level positively correlated with the other predictors of the progression of MM. Conclusion: As per this study, SB2M level (which is a less invasive test than bone marrow testing and less costly) can be used as the predictor of progression of MM from asymptomatic to symptomatic. However, small sample size and cross-sectional pattern of the study were the limitations of this study. Bigger sample size and prospective cohort-type study designing method could be a better method to find a stronger correlation between MM staging and SB2M levels.

Clinicopathological Study of Xeroderma Pigmentosa: A Series of Eight Cases

Abstract Background: Xeroderma pigmentosa (XP) is a rare inherited (autosomal recessive) disease, resulting from impairment in DNA repair that involves recognition and repair of ultraviolet radiation (UVR)-induced DNA damage in the nucleotide excision repair pathway. This results in increased photosensitivity, UVR-induced damage to skin and eye, increased susceptibility to cutaneous and ocular cancers, and progressive neurodegeneration in some patients. Aims and Objective: The objective of the study was to describe the clinicopathological spectrum of eight cases of XP. Materials and Methods: An ambispective case series was conducted in a pediatric tertiary care hospital in eastern India during a 10-year period from 2013 to 2022. Results: All the children of our cohort were born of consanguineous marriage. The mean age of presentation was 1.2 years (range: 7 months–3 years), whereas three children presented during their infancy. The male-to-female ratio was 5:3. The most common findings were cutaneous (100%), followed by ophthalmic (75%) and/or neurological symptoms (25%). Patients had normal skin at birth but soon developed extreme photosensitivity followed by abnormal skin pigmentation and subsequently progressive xerosis, atrophy, wrinkling, and poikiloderma over time. Six patients had varied degrees of ocular involvement, whereas three of them had severe manifestations including madarosis, tylosis, ectropion, lagophthalmos, phthisis bulbi, clouding and scarring of the cornea with complete or partial loss of vision, and ophthalmic malignancies. Fifty percent (n = 4) of cases had cutaneous and ocular premalignant (actinic keratosis) and malignant lesions including melanoma and nonmelanoma skin cancer such as squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) in their early childhood. One patient had simultaneous occurrence of multiple malignancies together (SCC, BCC, and melanoma). Neurological abnormalities (subnormal intelligence) were found in two cases. There was no evidence of sensory neural hearing loss, microcephaly, neuroregression, or neurodeficits. Conclusion: Although XP is associated with increased mortality and morbidity, early diagnosis followed by persistent vigorous photoprotection and regular screening for early detection of malignancies along with psychological support can drastically improve patients’ quality of life and life expectancy. Besides genetic counseling, further research is required on formulating optimal management of XP, specifically the role and possibilities of gene therapy in XP.