ABSTRACT
Cowden syndrome is caused by mutations in the phosphatase and tensin homolog (PTEN) gene and is part of the PTEN hamartoma tumor syndrome. Skin lesions including trichilemmomas, acral keratosis, mucocunateous neuromas and oral paillomas are the most prevalent feature found in patients with Cowden syndrome. It also possesses an increased risk of developing malignancies including breast, thyroid, endometrial, and colorectal cancers.Due to the increased risk of cancer, early diagnosis and regular surveillance are important for Cowden syndrome patients. Herein, we report a case of Cowden syndrome with diverse cutaneous manifestations and thyroid cancer.
ABSTRACT
We analyzed 1,079 forensic autopsies conducted in 2021 by the National Forensic Service Daejeon Institute from the Jungbu province in the central part of South Korea, for their manner and cause of death. Among the manner of death (n=1,079), 45.3% (n=489) were categorised as unnatural, 39.5% (n=426) as natural, and 15.2% (n=164) were unknown. Among the unnatural deaths (n=489), 40.7% (n=199) were accidents, 36.8% (n=180) were suicides, 14.1% (n=69) were undetermined, and 8.4% (n=41) were homicides. The major causes of unnatural deaths (n=489) were by trauma, causing 34.4% (n=168), poisoning causing 26.8% (n=131), and asphyxia causing 17.2% (n=84). The major cause of death by trauma (n=168) was falling at 46.4% (n=78), and by asphyxia (n=84) was strangulation at 76.2% (n=64). Among natural deaths (n=426), heart disease was the major cause at 49.8% (n=212) followed by vascular disease at 16.7% (n=71). In future, a time-series statistical analysis on the manner and causes of death in Jungbu province may provide insight and allow for more advanced interpretations about both healthcare and public safety.
ABSTRACT
This study highlights a new case of an infant death caused by mechanical asphyxia, who was found dead after being wrapped and pressed by a daycare center teacher with the body and beddings. Moreover, we present a comparative review of four similar previously reported cases and the implications for forensic pathologists in the management of such cases from the perspectives of judicial verdicts of the cases. The previous report commented that the four cases could be considered as overlaying as a type of accidental asphyxia. However, a contextual comprehensive review including the whole scenarios of the cases and negative postmortem findings concluded that all the cases were explicitly different from overlaying cases. Furthermore, we followed up the judicial processes and verdicts in all five cases, including the present case and the four previously reported cases. In the four cases, the defendants were incarcerated for violation of ‘Act on Special Cases Concerning the Punishment of Child Abuse Crimes.’ The ruling trend revealed that the prison sentence durations had been prolonged from 4 to 19 years. Therefore, for a pediatric death suspecting mechanical asphyxia involving a daycare center, contextual comprehensive approach is essential to determine the cause of death and to provide appropriate medicolegal interpretation.
ABSTRACT
Background@#Various treatments exist for addressing volume loss in atrophic scars. Although laser therapy has gained traction in treating atrophic scars, it is associated with side effects, such as post-inflammatory hyperpigmentation or erythema. Additionally, not all types of atrophic scars respond optimally to laser therapy, even after multiple sessions. @*Objective@#This study aimed to evaluate the efficacy and safety of punch elevation for atrophic scars that yielded unsatisfactory outcomes after repeated laser treatment sessions. @*Methods@#Seven patients with atrophic scars on their facial area underwent punch elevation, concurrently supplemented by fractional CO2 laser application to the scar margins. Improvement in volume restoration of atrophic scars was assessed via investigator evaluation and 3-dimensional (3D) image analysis. @*Results@#After 1 month, median volume (interquartile range) of depression improved from 4.39 mm3 (2.23∼9.90 mm3 ) to 1.97 mm3 (1.46∼7.50 mm3 ), indicating a statistically significant difference post-punch elevation (p=0.018). No serious adverse events were reported during follow-up. @*Conclusion@#The efficacy of the punch elevation was objectively evaluated. Punch elevation is a safe and effective therapeutic avenue for atrophic scars that exhibit resistance to laser or alternative interventions.
ABSTRACT
In the cases of infants and children, there is a special form of accidental asphyxia that occurs in an unsafe sleeping environment. Rarely, some infants and children unexpectedly die in the day care centers. This also occurs during the process when teachers put the infants and children to sleep. This analysis was performed on national forensic autopsy cases from January 1, 2001, to October 31, 2022. The 97,402 cases were selected to provide their incident overview, the cause of death and the manner of death. The cases of infants and children asphyxia at day care centers were 43 cases (0.04%). The major cause of death was sudden infants and children death syndrome which included the possibility of accidental asphyxia (31 cases). This was followed by chocking (8 cases), complicated asphyxia (2 cases), smothering (1 case), and positional asphyxia (1 case). Two cases were a result of homicide, 10 cases were accidents, and 31 cases had unknown manner of death. There were four cases of asphyxia that occurred in the process of teachers putting infants and children to sleep. In all cases, there were no specific findings in the autopsy and there were CCTV footage including contact with the day care center teacher while taking a nap. Reporting these results provides information and awareness to social members related with infants and children, specially day care centers, and serves as basis for establishing social systems such as mandatory of CCTVs, helping to reduce the occurrence of similar death on infants and children.
ABSTRACT
Bullous pemphigoid (BP) is a chronic and recurrent bullous disorder that may be associated with the administration of certain drugs. Recently, bullous cutaneous adverse events after immunotherapy (IT) or targeted therapy have been increasingly reported. Here, we report a case of BP in a patient diagnosed with metastatic melanoma after treatment with pembrolizumab, dabrafenib, and trametinib. Histopathological examination showed a subepidermal blister with perivascular lymphocytic and eosinophilic infiltration; the accompanying findings of linear immunoglobulin G and C3 deposition by immunofluorescence microscopy were consistent with BP. Since IT agents may initiate immune dysregulation and pathologic autoantibody production, which are required for the pathogenesis of BP, the lesions were thought to be cutaneous adverse events caused by IT.
ABSTRACT
Microcystic adnexal carcinoma (MAC) is a rare infiltrative cutaneous malignant tumor that presents as scar-like papules or plaques on sun-exposed skin. MAC can be misdiagnosed as a benign adnexal tumor, owing to its histopathologic similarity and slow growth rate. Nonetheless, MAC can show aggressive local invasion. Therefore, MAC should be treated with surgical excision or radiation therapy. Herein, we report the case of a 51-year-old woman with a flesh-colored plaque on her forehead. The patient was diagnosed with a benign adnexal tumor on the first punch biopsy. Notably, after a second incisional biopsy, the patient was finally diagnosed with MAC. This case demonstrates the difficulty of diagnosing MAC, suggesting that MAC should be considered for the differential diagnosis of slow-growing tumors in the head and neck and that multiple biopsies are needed when histological findings are ambiguous.
ABSTRACT
Onychogryphosis is a disorder of nail plate growth, which most commonly involves the toenails. It is characterized by opaque, yellow-brown thickening of the nail plate with associated marked convexity and elongation. Treatment for onychogryphosis can be conservative or operative depending on the cause and medical status of the patient. A 30-year-old male presented with onychogryphosis of the right and left toenails. Since the patient had shown recurrence after simple nail avulsion several years ago, the inverted T incision method and fusiform excision of the hypertrophic hyponychium were performed. No recurrence was observed during the 3-year follow-up period. Our results showed that nail avulsion combined with traction osteophyte removal is a suitable surgical method for treating onychogryphosis.
ABSTRACT
We analyzed the manner and cause of death in 945 forensic autopsies from the Jungbu province (Central part of South Korea) conducted by the National Forensic Service Daejeon institute in 2020. Analysis of the manner of death revealed that 43.6% (412/945 cases) were natural deaths, 41.6% (393/945 cases) were unnatural deaths, and 14.8% (140/945 cases) deaths were unknown. Among the unnatural deaths, the major manner of death (40.7%, 160/393 cases) were by accidents, 29.5% (116/393 cases) were by suicide, 21.6% (85/393 cases) were undetermined, and 8.1% (32/393 cases) were by homicide. Among the unnatural deaths, the major cause of death (42.7%, 168/393 cases) were by trauma, 19.3% (76/393 cases) were by poisoning, and 16.5% (65/393 cases) were by asphyxia. Falling was the major cause of death by trauma (42.9%, 72/168 cases) and strangulation was the major cause of death by asphyxia (72.3%, 47/65 cases). Among natural deaths, heart disease was the major cause (43.7%, 180/412 cases), followed by vascular disease (18.9%, 78/412 cases). This study is the first statistical analysis of the manner and cause of deaths in the Jungbu province. A time-series statistical analysis of the manner and cause of deaths in this province might allow more advanced interpretations about both public safety and healthcare in the future.
ABSTRACT
Background/Aims@#Sacroiliitis is a frequent extraintestinal manifestation of inflammatory bowel diseases (IBDs). This study aimed to assess the prevalence of sacroiliitis using a validated screening tool based on abdominopelvic computed tomography (APCT) in Korean patients with Crohn’s disease (CD) and examine potential associations between clinical characteristics and sacroiliitis. @*Methods@#One hundred five patients with CD undergoing APCT for any indication at an IBD clinic were matched 1:1 for age and sex with 105 controls without underlying chronic illnesses. Using a validated APCT screening tool that defines sacroiliitis as either ankylosis or a total erosion score (TES) ≥ 3, all computed tomography scans were assessed by two independent, blinded radiologists. We compared the prevalence of sacroiliitis between CD patients and controls and clinical characteristics between CD patients with and without sacroiliitis. @*Results@#The prevalence of sacroiliitis was significantly higher in CD patients than in controls (13.3% vs. 4.8%, p = 0.030). All subjects with sacroiliitis had a TES ≥ 3, but no ankylosis. The assessment of sacroiliitis in APCT showed excellent interreader reliability (Cohen’s kappa = 0.933 for presence of sacroiliitis). Sacroiliitis in CD patients was bilateral and asymptomatic. There were no significant associations between sacroiliitis and any demographic data or clinical characteristics in these patients. @*Conclusions@#The prevalence of APCT-detected sacroiliitis in CD patients was higher than that in controls, but the condition was asymptomatic. The clinical significance of asymptomatic sacroiliitis in Korean CD patients remains unclear.
ABSTRACT
Objective@#Adults with autism spectrum disorders (ASD) experience significant difficulties with executive functioning (EF) and related adaptive skills, yet the lack of interventions in South Korea targeting these areas has resulted in a heightened need to develop an evidence- based program. Therefore, we developed a novel intervention aiming to enhance everyday EF and daily adaptive skills in adults with high-functioning ASD and conducted a pilot study to evaluate the validity and feasibility of the program. @*Methods@#A behavioral intervention of 10-weekly sessions was developed based on literature searches and focus group interviews. Seven adults with high-functioning ASD (mean age=20.29) participated in a single-group pilot trial. We used self and parent-report questionnaires as well as skills measured by assessment instruments to analyze differences before and after the intervention. @*Results@#Significant improvements were shown in everyday EF, including time management, organization, self-restraint, and regulation of emotions. Additionally, results demonstrated an enhancement in adaptive functioning, especially in the subdomains of daily living skills. Analyses of parental outcomes only revealed a significant decrease in the scores of emotion regulation. @*Conclusion@#The current study provides good evidence for the validity and feasibility of an intervention to improve everyday EF and adaptive skills in adults with ASD.
ABSTRACT
Purpose@#To evaluate the effects of baseline trabecular meshwork (TM) and Schlemm’s canal (SC) microstructures on intraocular pressure (IOP) reduction amount in treatment-naïve patients with primary open-angle glaucoma (POAG). @*Methods@#A total 69 eyes of POAG patients who had not been treated with IOP-lowering agent were enrolled in this retrospective study. The patients had been prescribed topical IOP-lowering agent and used it for 1 year. The morphologic features of the TM and SC were collected using anterior segment module of spectral-domain optical coherence tomography with enhanced depth imaging at baseline. Images of the nasal and temporal corneoscleral limbus were obtained with serial horizontal enhanced depth imaging B-scans and TM width and SC area were measured in each scan. We investigated the effects of baseline TM and SC microstructures on IOP reduction amount. @*Results@#The baseline IOP of 69 glaucomatous eyes was 17.9 ± 3.8 mmHg, and the mean amount of IOP reduction was 3.5 ± 2.1 mmHg after 1 year. Mean TM widths of nasal and temporal sector were 470.33 ± 80.05 and 479.74 ± 79.59 μm, respectively. SC area was measured as 4,818.50 ± 1,464.28, 4,604.23 ± 1,567.73 μm2 at nasal sector and temporal sector, respectively. The correlation analysis revealed a positive correlation between SC area and average amount of IOP reduction, indicating that the larger baseline SC area, the greater the IOP drop with topical IOP-lowering agents. However, no correlation was found between TM width and IOP lowering amount in patients with POAG. @*Conclusions@#The baseline SC area showed positive correlation with the IOP reduction amount in patients with POAG. This finding suggests that the SC area can be a clinical parameter to predict the IOP reduction amount before using IOP-lowering agents in POAG patient.
ABSTRACT
Background@#Programmed death 1 inhibitors enhance pre-existing immune responses by directly blocking anti-programmed cell death receptor-1. They have been widely used these days, but little is known about the dermatologic side effects and the factors affecting the response to therapy. @*Objective@#To determine the association between dermatologic side effects and oncologic response to programmed death 1 inhibitors and to investigate the factors affecting the response to programmed death 1 inhibitors. @*Methods@#We retrospectively reviewed the records of patients with melanoma who were referred to the dermatology department for their newly arising skin lesions after treatment with pembrolizumab and nivolumab from January 1, 2015, to April 30, 2019. The oncologic outcomes of the patients were determined by medical records from the hemato-oncology department. Sex, stage, dermatologic side effects, and age at the time of initial diagnosis were analyzed as the factors affecting oncologic outcomes. Progression-free survival was analyzed between the patients with and those without dermatologic side effects. @*Results@#Of the 177 patients screened for the study, 14 were referred to the dermatology department for cutaneous side effects. There was no difference between the dermatologic side effect group and the non-dermatologic side effect group in terms of oncologic outcome and progression-free survival. Sex and stage significantly increased the risk of disease progression with pembrolizumab treatment. @*Conclusion@#Although it has been reported that there could be a strong association between dermatologic side effects and oncologic outcomes, we were not able to reach the same conclusion among melanoma patients.
ABSTRACT
Systemic lupus erythematosus (SLE) may occur in any organ. In patients with SLE, myocarditis is extremely rare and potentially life-threatening. Herein, we report on a patient with lupus myocarditis, diagnosed by myocardial biopsy, immunologic tests, and clinical manifestations. Our findings suggest that securing time for diagnosis via extracorporeal membrane oxygenation and other intensive care is helpful for obtaining a good prognosis.
ABSTRACT
Background@#Hydroa vacciniforme-like lymphoproliferative disorder (HVLPD) is rare Epstein-Barr virus (EBV)-associated disease. The classic form of HVLPD is a self-resolving disease, whereas the systemic form can progress to malignant lymphoma, resulting in fatal outcomes. However, the prognostic factors remain unclear. Objective: This study aimed to evaluate the clinical characteristics of HVLPD and the association between whole blood EBV DNA and clinical outcomes. @*Methods@#We retrospectively reviewed our 25-year experience involving 11 patients with HVLPD from a single tertiary center in South Korea and evaluated the clinical characteristics of HVLPD and the correlation between whole blood EBV DNA and clinical outcomes. @*Results@#Of the total 11 patients, 54.5% (6/11) manifested classic HVLPD that resolved with conservative treatment, while 45.5% (5/11) patients had systemic HVLPD, four of whom died of progressive disease or hemophagocytic syndrome. Five patients with systemic HVLPD manifested severe skin lesions such as prominent facial edema, deep ulcers and necrotic skin lesions involving sun-protected areas. Median EBV DNA levels at initial diagnosis were higher in three dead patients than in those alive (2,290 vs. 186.62 copies/μl). @*Conclusion@#When EBV DNA levels were high, patients showed severe skin lesions and when EBV DNA levels were low, skin lesions tended to improve. Thus, patients with high EBV DNA levels showed an increased risk of severe skin lesions and disease progression.
ABSTRACT
Background@#The influence of airborne particulate matter (PM) on skin has primarily been studied in patients with skin diseases such as atopic dermatitis. Recently, the effect of PM on healthy human skin has gained attention. @*Objective@#To evaluate the relationship between PM concentration and objective skin changes in healthy subjects. @*Methods@#This prospective study enrolled 25 healthy volunteers without any skin disease. Data regarding daily meteorological parameters and air pollution were collected during a high-PM period and a low-PM period for 14 days. Environmental and lifestyle factors that might influence skin conditions of subjects were also collected during the study period. Biophysical parameters of the skin such as transepidermal water loss (TEWL), hydration, erythema index, and melanin index were measured.Pores, wrinkles, sebum, and skin tone were evaluated using a facial analysis system. @*Results@#Mean TEWL value during the high-PM period was significantly higher than that during the low-PM period (10.16 g/m2 /h vs. 5.99 g/m2 /h; p=0.0005). Mean erythema index was significantly higher in the highPM period than that in the low-PM period (4.3 vs. 3.42; p=0.038). For facial analysis system indices, uniformity of skin tone was higher in the low-PM period than that in the high-PM period (p＜0.0001). In addition, with increasing PM 10 and PM2.5, TEWL also showed increase when other environmental components were constant (regression coefficient [RC]=0.1529, p＜0.0001 for PM10 ; RC=0.2055, p=0.0153 for PM 2.5). @*Conclusion@#Increased PM concentrations may contribute to disturbed barrier function, increased facial erythema, and uneven skin tone even in healthy human skin.
ABSTRACT
A capillary hemangioma is a vascular tumor with small capillary sized vascular channel. Multiple capillary hemangioma in relation with drugs have been rarely reported. Here in, we report a case of multiple capillary hemangioma in patient diagnosed with chronic myeloid leukemia who received tyrosine kinase inhibitors (TKIs). Histopathological findings have shown capillary proliferation in the upper dermis, which is consistent with capillary hemangioma. Since TKIs can paradoxically activate the MEK/ERK pathway which is required for angiogenesis, we presumed that the lesions as the cutaneous side effects of TKIs.
ABSTRACT
Background/Aims@#Sacroiliitis is a frequent extraintestinal manifestation of inflammatory bowel diseases (IBDs). This study aimed to assess the prevalence of sacroiliitis using a validated screening tool based on abdominopelvic computed tomography (APCT) in Korean patients with Crohn’s disease (CD) and examine potential associations between clinical characteristics and sacroiliitis. @*Methods@#One hundred five patients with CD undergoing APCT for any indication at an IBD clinic were matched 1:1 for age and sex with 105 controls without underlying chronic illnesses. Using a validated APCT screening tool that defines sacroiliitis as either ankylosis or a total erosion score (TES) ≥ 3, all computed tomography scans were assessed by two independent, blinded radiologists. We compared the prevalence of sacroiliitis between CD patients and controls and clinical characteristics between CD patients with and without sacroiliitis. @*Results@#The prevalence of sacroiliitis was significantly higher in CD patients than in controls (13.3% vs. 4.8%, p = 0.030). All subjects with sacroiliitis had a TES ≥ 3, but no ankylosis. The assessment of sacroiliitis in APCT showed excellent interreader reliability (Cohen’s kappa = 0.933 for presence of sacroiliitis). Sacroiliitis in CD patients was bilateral and asymptomatic. There were no significant associations between sacroiliitis and any demographic data or clinical characteristics in these patients. @*Conclusions@#The prevalence of APCT-detected sacroiliitis in CD patients was higher than that in controls, but the condition was asymptomatic. The clinical significance of asymptomatic sacroiliitis in Korean CD patients remains unclear.
ABSTRACT
Objective@#Adults with autism spectrum disorders (ASD) experience significant difficulties with executive functioning (EF) and related adaptive skills, yet the lack of interventions in South Korea targeting these areas has resulted in a heightened need to develop an evidence- based program. Therefore, we developed a novel intervention aiming to enhance everyday EF and daily adaptive skills in adults with high-functioning ASD and conducted a pilot study to evaluate the validity and feasibility of the program. @*Methods@#A behavioral intervention of 10-weekly sessions was developed based on literature searches and focus group interviews. Seven adults with high-functioning ASD (mean age=20.29) participated in a single-group pilot trial. We used self and parent-report questionnaires as well as skills measured by assessment instruments to analyze differences before and after the intervention. @*Results@#Significant improvements were shown in everyday EF, including time management, organization, self-restraint, and regulation of emotions. Additionally, results demonstrated an enhancement in adaptive functioning, especially in the subdomains of daily living skills. Analyses of parental outcomes only revealed a significant decrease in the scores of emotion regulation. @*Conclusion@#The current study provides good evidence for the validity and feasibility of an intervention to improve everyday EF and adaptive skills in adults with ASD.
ABSTRACT
Purpose@#To evaluate the effects of baseline trabecular meshwork (TM) and Schlemm’s canal (SC) microstructures on intraocular pressure (IOP) reduction amount in treatment-naïve patients with primary open-angle glaucoma (POAG). @*Methods@#A total 69 eyes of POAG patients who had not been treated with IOP-lowering agent were enrolled in this retrospective study. The patients had been prescribed topical IOP-lowering agent and used it for 1 year. The morphologic features of the TM and SC were collected using anterior segment module of spectral-domain optical coherence tomography with enhanced depth imaging at baseline. Images of the nasal and temporal corneoscleral limbus were obtained with serial horizontal enhanced depth imaging B-scans and TM width and SC area were measured in each scan. We investigated the effects of baseline TM and SC microstructures on IOP reduction amount. @*Results@#The baseline IOP of 69 glaucomatous eyes was 17.9 ± 3.8 mmHg, and the mean amount of IOP reduction was 3.5 ± 2.1 mmHg after 1 year. Mean TM widths of nasal and temporal sector were 470.33 ± 80.05 and 479.74 ± 79.59 μm, respectively. SC area was measured as 4,818.50 ± 1,464.28, 4,604.23 ± 1,567.73 μm2 at nasal sector and temporal sector, respectively. The correlation analysis revealed a positive correlation between SC area and average amount of IOP reduction, indicating that the larger baseline SC area, the greater the IOP drop with topical IOP-lowering agents. However, no correlation was found between TM width and IOP lowering amount in patients with POAG. @*Conclusions@#The baseline SC area showed positive correlation with the IOP reduction amount in patients with POAG. This finding suggests that the SC area can be a clinical parameter to predict the IOP reduction amount before using IOP-lowering agents in POAG patient.