KRT5 Gene Mutation in Patient with Epidermolysis Bullosa Simplex with Mottled Pigmentation / 대한피부과학회지

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant disease characterized by nonscarring blistering after minor trauma, reticulated pigmentation, and palmoplantar hyperkeratosis. EBS-MP is caused by a mutation in the KRT5 or KRT14 gene encoding the keratinocyte intermediate filament. A 14-year-old girl presented with reticulated hyperpigmentation of the trunk and both extremities, which was observed 9 years ago.Additionally, punctate hyperkeratotic papules were observed on both the palms and soles. She had a history of being diagnosed with EBS as a baby. Skin biopsies were performed on both the hyperpigmented and hyperkeratotic papules. Based on the clinical and histopathological findings, the patient was diagnosed with EBS-MP, and next-generation sequencing was performed. Genetic screening identified a p.P25L mutation in the KRT5 gene.Herein, we report a case of p.P25L mutation in the KRT5 gene in a patient with EBS-MP.

Meta-Analysis Exploring the Effects of Music Training in Cochlear Implant Users by Age

Background and Objectives@#The present study aimed to explore meaningful change in the musical performance of cochlear implant (CI) users according to age after receiving music training compared to the other CI users who did not receive any music training and normal hearing (NH) listeners. @*Materials and Methods@#Article search was conducted from five journal databases. In accordance with PICOS criteria, 29 articles and 15 articles were included for the CI and NH groups, respectively. A total of 44 articles consisting of 407 CI users and 486 NH participants were then analyzed. Using the data gathered from pre- and post-training, meta-analysis was applied by the random-effects model, and then piecewise meta-regression was employed. @*Results@#CI users with music training showed better performance than those without the training across all ages. The curve change in musical performance when training showed that the CI users was similar to the general pattern of NH performance, indicating that the CI users gained benefits from music training and developed perceptual ability, even though it was not as high as the level of NH counterparts. @*Conclusions@#This finding supports the benefits of active engagement with music for both CI users and NH listeners, while noting the important role of music as one of the primary aural rehabilitation approaches.

D-Galactose and Hypoxia Induce the Early Onset of Age-Related Hearing Loss Deterioration in a Mouse Model

BACKGROUND@#We previously showed that aging accelerates after 3 months of exposure to hypoxia and environmental change but not genetic modifications. Here, we aimed to simply induce early-onset age-related hearing loss within a short period based on our previous method. @*METHODS@#We randomly divided 16 C57BL/6 mice into four groups that were maintained under conditions of normoxia and hypoxia with or without injected D-galactose for 2 months. Deteriorated hearing, the expression of age-related factors, and oxidative stress responses were detected using the click and tone burst auditory brainstem response test, reverse transcription-polymerase chain reaction, and by measuring superoxide dismutase (SOD). @*RESULTS@#The group maintained under hypoxia combined with D-galactose lost hearing particularly at 24 Hz and 32 Hz at 6 weeks compared with the other groups. Aging-related factors were also significantly decreased in the hypoxia and D-galactose groups. However, SOD levels did not significantly differ among the groups. @*CONCLUSION@#Age-related hearing loss is an environmental disorder induced by chronic oxidative stress associated with genetic backgrounds. Our findings suggested that D-galactose and hypoxia can induce the phenotypes of age-related hearing loss and aging-associated molecules in a murine model within a short time with environmental stimulation alone.

Association between Caregiver’s Awareness of Human Rights and Quality of Service: Focused on Human Right Education / 보건행정학회지

Background@#Long-term care insurance for the elderly has been stably established along with the quantitative expansion of long-term care facilities. Indeed, the need for a paradigm about human rights-based service approach is being raised throughout society from a service perspective. Therefore, this study aimed to analyze the association between elderly human rights awareness and quality of service by considering human rights education as a moderate variable. @*Methods@#This study conducted surveys with 138 caregivers working in long-term care facilities located in Seoul and Gangwon.General characteristics, awareness of human rights, and the level of service quality were examined using descriptive statistics, frequency analysis, and correlation analysis. And multi-variable linear regression with a hierarchical framework was employed. These analyses were performed using IBM SPSS ver. 25.0. @*Results@#Of the 138 caregivers, 97.1% were female, 87.7% were more than 50 years old, and most of their education level was high-school graduates. Their length of employment ranged from more than 5 years to less than 10 years. The level of awareness regarding elderly human rights of the elderly was below normal (mean=2.21), but the quality of service was high (mean=4.21), and the need for human rights education was also high (mean=4.28). Among the general characteristics, the length of employment was significantly associated with awareness of elderly human rights. Moreover, political rights awareness, included as sub-domains of human rights, was positively associated with quality of service. However, the moderating variable, human rights education, was not significantly associated with the quality of service. @*Conclusion@#In this study, human rights education, as a moderating variable, did not have a statistically significant effect on caregivers’ human rights awareness in relation to service quality. This finding is inconsistent with previous research results. These results can be explained by the fact that the frequency of education in long-term care facilities was a significant factor in the practice of protecting the human rights of the elderly. Therefore ongoing encouragement for the frequency of current human rights education and improvements in the educational approach appear to be necessary. In addition, these findings reveal the need for strength of education policies and effective in-depth research about human rights and quality of service to respect the human rights of the elderly.

Deep Learning Techniques for Ear Diseases Based on Segmentation of the Normal Tympanic Membrane

Objectives@#. Otitis media is a common infection worldwide. Owing to the limited number of ear specialists and rapid development of telemedicine, several trials have been conducted to develop novel diagnostic strategies to improve the diagnostic accuracy and screening of patients with otologic diseases based on abnormal otoscopic findings. Although these strategies have demonstrated high diagnostic accuracy for the tympanic membrane (TM), the insufficient explainability of these techniques limits their deployment in clinical practice. @*Methods@#. We used a deep convolutional neural network (CNN) model based on the segmentation of a normal TM into five substructures (malleus, umbo, cone of light, pars flaccida, and annulus) to identify abnormalities in otoscopic ear images. The mask R-CNN algorithm learned the labeled images. Subsequently, we evaluated the diagnostic performance of combinations of the five substructures using a three-layer fully connected neural network to determine whether ear disease was present. @*Results@#. We obtained the receiver operating characteristic (ROC) curve of the optimal conditions for the presence or absence of eardrum diseases according to each substructure separately or combinations of substructures. The highest area under the curve (0.911) was found for a combination of the malleus, cone of light, and umbo, compared with the corresponding areas under the curve of 0.737–0.873 for each substructure. Thus, an algorithm using these five important normal anatomical structures could prove to be explainable and effective in screening abnormal TMs. @*Conclusion@#. This automated algorithm can improve diagnostic accuracy by discriminating between normal and abnormal TMs and can facilitate appropriate and timely referral consultations to improve patients’ quality of life in the context of primary care.

A Case of Congenital Cutaneous Candidiasis in Very Low Birth Weight Infant with Maternal Chorioamnionitis / 대한피부과학회지

Congenital cutaneous candidiasis (CCC) is a rare disease caused by Candida spp. that occurs within the first six days of life. Its exact pathogenesis remains unclear; however, the suspected pathomechanisms include maternal vulvovaginal candidiasis and ascending infections. A preterm, 1,550-g male infant presented with generalized maculopapules and pustules on his whole body. The patient’s mother had undergone cervical cerclage at a gestational age (GA) of 29 weeks due to an incompetent internal os of the cervix. The pregnancy was terminated at GA 37-week because the mother developed chorioamnionitis. We performed a potassium hydroxide microscopic examination, skin biopsy, and fungal culture test on the baby. Microscopic examination of the skin scrapings revealed pseudohyphae with yeasts, and Candida albicans was identified in the culture test. Maternal placental biopsy revealed fungal organisms, and the baby was diagnosed with CCC due to an ascending infection. The skin lesions completely disappeared after intravenous liposomal amphotericin B treatment.

A Case of a Hybrid Cyst Composed of 3 Components: An Epidermal Cyst, a Trichilemmal Cyst and a Pilomatricoma / 대한피부과학회지

no abstract available.

Immunohistochemical Expression of Yes-Associated Protein in Koreans with Acral Melanomas / 대한피부과학회지

Background@#Acral melanoma is the most common subtype of melanoma among Koreans, and regional or distant metastasis is an indicator of poor prognosis. Yes-associated protein (YAP), a key effector of the Hippo pathway, is known to induce tumor progression and metastasis in various cancers. @*Objective@#We aimed to analyze the clinical and histopathological characteristics of acral melanoma among Koreans and to evaluate their association with YAP expression. @*Methods@#This retrospective review included 27 patients with acral melanoma. Clinical features including age, sex, lesion site, and stage were obtained from the medical records and images. Biopsy slides of patients with acral melanoma were reviewed, and immunohistochemical staining for YAP was performed. @*Results@#The rate of YAP expression was significantly higher in patients having acral melanoma with regional or distant lymph node (LN) metastasis than in those without metastasis (n=4/5, 80.0% vs. n=2/22, 9.1%; p=0.004). Histopathologically, the rate of YAP expression was higher in patients having acral melanoma with lymphovascular invasion than in those without lymphovascular invasion (n=4/8, 50.0% vs. n=2/19, 10.5%; p=0.044). Among the 27 lesions, 14 (51.9%) were on stress-bearing sites such as the forefoot and heel. However, the rate of YAP expression did not differ significantly between weight-bearing and non-weight-bearing locations (p=0.834). @*Conclusion@#YAP expression is significantly associated with metastasis, especially LN metastasis, in patients with acral melanoma. Therefore, YAP expression may be used as a prognostic factor for LN metastasis and a target for novel treatments in patients with melanoma.

Effect of Activating Transcription Factor 3 on Inflammatory Response and Differentiation of Keratinocytes / 대한피부과학회지

Background@#Pathogenesis of psoriasis is related to dysregulated keratinocyte function and immune responses. Genetic background is one of the most important factors in disease pathogenesis. However, psoriasis-associated genes have not yet been fully identified. Activating transcription factor 3 (ATF3) is a member of the cyclic adenosine monophosphate responsive element-binding protein family of transcription factors, which may regulate epidermal keratinocytes. @*Objective@#We aimed to evaluate the effects of ATF3 on inflammation and differentiation of keratinocytes. @*Methods@#We evaluated the expression of ATF3 in polyinosinic:polycytidylic acid (poly[I:C])-treated keratinocytes. Subsequently, we compared ATF3 levels in psoriatic and normal skin using immunohistochemical staining. To illustrate the role of ATF3, we generated ATF3-overexpressing keratinocytes and ATF3-knockdown keratinocytes using a recombinant adenovirus. We investigated inflammation and differentiation of keratinocytes by measuring the mRNA levels of inflammatory cytokines and differentiation markers. @*Results@#Treatment of keratinocytes with poly(I:C) increased ATF3 expression in a time-dependent manner. Immunohistochemical staining showed that ATF3 expression was increased in the epidermis of psoriatic tissues. When ATF3 was overexpressed in keratinocytes using a recombinant adenovirus, poly(I:C)-induced inflammation was reduced. Conversely, ATF3 knockdown increased poly(I:C)-induced inflammation. Thus, ATF3 overexpression inhibited keratinocyte differentiation, while ATF3 knockdown promoted it. @*Conclusion@#ATF3 may be involved in the pathogenesis of psoriasis by influencing the inflammatory response and differentiation of keratinocytes.

Role of Substance P in Regulating Micro-Milieu of Inflammation in Alopecia Areata

Background@#Alopecia areata (AA) is an autoimmune disease characterized by chronic inflammation, the pathogenesis of which is unknown. Stress is believed to play a role; however, evidence remains insufficient. A recent study showed that substance P (SP) damaged hair follicles by causing neurogenic inflammation, activating perifollicular mast cells, and inducing keratinocyte apoptosis. @*Objective@#We aimed at studying the role of SP in AA pathogenesis. We investigated the SP levels in the lesional scalp tissues and serum. We also studied the effect of SP on the inflammatory response and hair growth in the outer root sheath (ORS) cells. @*Methods@#We compared the serum levels of SP in 58 AA patients and 28 healthy subjects.Then, we checked the expression of SP and SP receptor, neurokinin-1 receptor (NK-1R) in the scalps of AA patients and healthy controls using immunohistochemical staining.Finally, we analyzed the mRNA expression of inflammatory cytokines and hair growthrelated factors in ORS cells. @*Results@#SP and NK-1R expression were markedly higher in the hair follicles and interfollicular epidermis of the scalp lesions of AA patients. However, there was no statistically significant difference in serum SP levels between controls and patients, regardless of the type of alopecia. SP significantly increased the mRNA expression of inflammatory cytokines and decreased hair growth-related growth factors in ORS cells, but the results were not dramatic. @*Conclusion@#SP triggered a localized micro-inflammation in lesional hair follicles, provoked an inf lammatory response, and inhibited hair growth, thereby confirming the pathogenic role of SP in AA.

A Study on the Relationship between Facial Skin Youthfulness and Lifestyle in Korean Women over 50 Years Old / 대한피부과학회지

Background@#Skin aging can be divided into intrinsic and extrinsic processes, and occur due to several factors. Although the interest in skin youthfulness is increasing globally, research on facial skin youthfulness and lifestyle is limited. @*Objective@#This study aimed to evaluate the association between facial skin youthfulness and biophysical facial skin parameters in Korean women over 50 years of age. We further investigated lifestyle factors that make people appear younger than their chronological age. @*Methods@#We surveyed the essential information and lifestyle of subjects by questionnaires, and measured the biophysical parameters of the facial skin. We then performed clinical facial assessments, and the values were compared with the chronologic age. The associations between age differences, biophysical parameters, and living habits were evaluated. @*Results@#We identified a positive correlation between age and melanin index (r=0.245, p＜0.001) and erythema index (r=0.119, p=0.002). The melanin index was statistically significantly lower in the group without regular outdoor activities (144.66±43.24 vs. 137.00±55.48, p=0.043). The melanin index and erythema index were the significant differences that defined younger perceived age than chronological age. The perceived age was younger in the group who wore a hat when performing outdoor activities than the group who did not (3.70±1.84 vs. 3.40±1.94, p=0.034). @*Conclusion@#To retain youthful skin, it is essential to reduce sun exposure, as this factor can affect the melanin and erythema indices by inducing photoaging. Therefore, avoiding the sun bia proper methods, such as wearing a hat and sunscreen during outdoor activities, is recommended to maintain skin youthfulness.

Engineering of Extracellular Vesicles Based on Payload Changes for Tissue Regeneration

In the field of tissue regeneration and tissue engineering, many years ago, various nano to macroscopic-sized materials have been used to reduce inflammation and restore damaged tissue. Whether it is safe to study the regeneration of all tissues based on the biological mechanisms of an organism composed of cells is still debated, and studies using extracellular vesicles derived from cells have become popular in the past decade. It has been reported that exosomes with a size of 100 nm or less, which plays an important role in cell–cell communication, contain various factors, such as proliferation, anti-inflammatory, and growth factors. In addition, the payload of exosomes varies depending on the parent cell and the recipient cell, and a technology to differentiate the selective payload must treat specific diseases. In this review, we examined the current trends in research using exosomes derived from cells or tissues and analyzed various research reports on factors that can affect tissue regeneration.

Engineering of Extracellular Vesicles Based on Payload Changes for Tissue Regeneration

In the field of tissue regeneration and tissue engineering, many years ago, various nano to macroscopic-sized materials have been used to reduce inflammation and restore damaged tissue. Whether it is safe to study the regeneration of all tissues based on the biological mechanisms of an organism composed of cells is still debated, and studies using extracellular vesicles derived from cells have become popular in the past decade. It has been reported that exosomes with a size of 100 nm or less, which plays an important role in cell–cell communication, contain various factors, such as proliferation, anti-inflammatory, and growth factors. In addition, the payload of exosomes varies depending on the parent cell and the recipient cell, and a technology to differentiate the selective payload must treat specific diseases. In this review, we examined the current trends in research using exosomes derived from cells or tissues and analyzed various research reports on factors that can affect tissue regeneration.

Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

Efficacy of Music Training in Hearing Aid and Cochlear Implant Users: A Systematic Review and Meta-Analysis

This study aimed to evaluate the efficacy of music training on the improvement of musical perception among hearing-impaired listeners using a systematic review and meta-analysis. Article search was conducted from five databases, Scopus, ScienceDirect, Web of Knowledge, CINAHL, and PubMed. A total of 186 participants from 10 studies investigating the music training effects on individuals fitted with hearing assistive devices and outcome measurements were included. The meta-analysis showed standardized mean difference as a measure of the effect size, in musical improvement between the preand post-training. Although the funnel plot yielded an asymmetrical graph, the Egger’s regression showed no significant publication bias. Interestingly, subgroup analysis showed that the training effect was greater in children than in adults. With a necessity of longer training period to significantly improve their musical perception, cochlear implant only users had better effect compared to bi-modal users with both cochlear implant and hearing aids. However, the difference in the training effect between the users with and without previous musical experience was nonsignificant. The present study concludes that auditory music training brings hearing-impaired listeners into better musical perception while informing that training effects differ depending on age, duration of the training, and the type of hearing device used.

Auditory Function Testing for Types of Dementia: Systematic Reviews and Meta-Analysis / 대한이비인후과학회지

It is acknowledged that there is a negative relationship between dementia and auditory function in older adults. This study conducted a systematic review and meta-analysis based on the data of audiologic testings from patients with neurodegenerative diseases in terms of auditory eventrelated potentials and central auditory processing tests, while focusing on Alzheimer’s disease (AD), dementia with Lewy bodies (DLB), and Parkinson’s disease dementia (PDD). A total of 34765 articles were retrieved from the seven electronic databases. After being screened by Participants, Index test, Control, Outcomes, Study design (PICOS) criteria, 129 articles for AD were included and then 72 articles were applied to the meta-analysis. However, five and six ar-ticles were systematically reviewed for the auditory functions of DLB and PDD, respectively,due to a small number of articles. The results of meta-analysis showed a significant difference between patients with AD and age-matched normal subjects, for N200 and P300 latency, P300 amplitude, and the behavioral central auditory processing tests, although there was a high heterogeneity. On the other hand, the systematic review indicated that the results of mismatch negativity test might distinguish auditory performance of DLB patients from that of PDD. Furthermore, for P300 amplitude, anterior to posterior distribution of brain resulted in meaningful difference of auditory function between AD and DLB patients. In sum, current review study suggests that lesion and degree of auditory (dys)function may be different depending on the type of dementia, although future research should be followed.

Hair Changes and Hair Care in Women Treated with Adjuvant Hormone Therapy for Breast Cancer: A Pilot Study / 대한피부과학회지

Background@#Hormone therapy, which includes tamoxifen and aromatase inhibitors, is the most common adjuvant therapy used for breast cancer. However, only a few studies have reported endocrine therapy induced alopecia. @*Objective@#We investigated the effects of long-term adjuvant hormone therapy on hair in patients with breast cancer, in addition to patients’ concerns and current treatment for hair loss. @*Methods@#Patients completed a questionnaire that included information on self-perceived hair changes after each adjuvant therapy session, distress, and current treatment for hair loss. Using a folliscope, we measured hair density and thickness in each patient and in healthy controls. @*Results@#The study included 93 patients with breast cancer (mean age 51.9±9.8 years). The density and hair thickness were 106.36±21.85 hairs/cm2 and 0.07±0.01 mm in the patient group and 147.86±30.67 hairs/cm2 and 0.07±0.01 mm in the control group (n=98, mean age 52.10±8.40 years), respectively. The mean hair density was significantly lower in the patient group than in the control group; however, no statistically significant intergroup difference was observed in hair thickness. Among 76 patients who perceived hair changes after adjuvant therapy, 71.1% (n=54) were distressed with regard to hair changes. However, only 7.8% of the patients, including two who were treated by dermatologists, currently received treatment for hair changes. @*Conclusion@#Dermatologists should be familiar with hair changes in patients with breast cancer and provide appropriate education to encourage patients to consult dermatologists for hair loss and thinning after breast cancer treatment.

Predictor of Subungual Melanoma against Benign Longitudinal Melanonychia:A Retrospective Cohort Study from Korea

Background@#Longitudinal melanonychia (LM) is a common clinical finding. Most cases of LM are benign, and a waitand-see approach is preferred in the management of this condition. Nevertheless, it is important for clinicians to distinguish subungual melanoma (SUM) from other benign LMs. @*Objective@#To evaluate the demographic and clinicopathologic characteristics of LM in the Korean population and to identify the predictor of SUM against other benign conditions. @*Methods@#This was a single-center retrospective cohort study including patients who underwent nail biopsy for LM from January 2000 to May 2019. To identify the predictor of SUM, receiver operating characteristic (ROC) analyses was performed. @*Results@#A total of 68 cases of biopsy-proven LM were included in the analysis. Among the 68 cases, 8 were SUM. In univariable analysis, patients diagnosed with SUM were older (p=0.035) and had a longer disease duration (p=0.004).They also showed multicolor pigmentation of LM (p=0.022),a larger width of LM (p＜0.001), and associated nail plate dystrophy (p=0.010) than patients diagnosed with benign conditions. In multivariable logistic regression, width of LM showed statistical significance (odds ratio, 1.083; 95% confidence interval, 1.018∼1.153). ROC analysis suggested that an LM width ＞28% of the whole nail was the predictor of SUM (area under the curve=0.883; p＜0.001). @*Conclusion@#SUM has distinct demographic and clinical features. The width of LM can predict SUM against other benign LMs.

Hair Changes and Hair Care in Women Treated with Adjuvant Hormone Therapy for Breast Cancer: A Pilot Study / 대한피부과학회지

Background@#Hormone therapy, which includes tamoxifen and aromatase inhibitors, is the most common adjuvant therapy used for breast cancer. However, only a few studies have reported endocrine therapy induced alopecia. @*Objective@#We investigated the effects of long-term adjuvant hormone therapy on hair in patients with breast cancer, in addition to patients’ concerns and current treatment for hair loss. @*Methods@#Patients completed a questionnaire that included information on self-perceived hair changes after each adjuvant therapy session, distress, and current treatment for hair loss. Using a folliscope, we measured hair density and thickness in each patient and in healthy controls. @*Results@#The study included 93 patients with breast cancer (mean age 51.9±9.8 years). The density and hair thickness were 106.36±21.85 hairs/cm2 and 0.07±0.01 mm in the patient group and 147.86±30.67 hairs/cm2 and 0.07±0.01 mm in the control group (n=98, mean age 52.10±8.40 years), respectively. The mean hair density was significantly lower in the patient group than in the control group; however, no statistically significant intergroup difference was observed in hair thickness. Among 76 patients who perceived hair changes after adjuvant therapy, 71.1% (n=54) were distressed with regard to hair changes. However, only 7.8% of the patients, including two who were treated by dermatologists, currently received treatment for hair changes. @*Conclusion@#Dermatologists should be familiar with hair changes in patients with breast cancer and provide appropriate education to encourage patients to consult dermatologists for hair loss and thinning after breast cancer treatment.

Activation of NLRP3 Inflammasome by Palmitic Acid in Human Sebocytes

Background@#Sebocytes are the main cells involved in the pathogenesis of acne by producing lipids and inflammatory cytokines. Although palmitic acid (PA) has been suggested to induce an inflammatory reaction, its effect on sebocytes remains to be elucidated. @*Objective@#In the present study, we investigated whether PA promotes inflammasome-mediated inflammation of sebocytes both in vivo and in vitro. @*Methods@#We intradermally injected PA into the mice ears. And, we treated cultured human sebocytes with PA. Inflammasome-mediated inflammation was verified by immunohistochemistry, Western blot and ELISA. @*Results@#PA-treated mice developed an inflammatory response associated with increased interleukin (IL)-1β expression in the sebaceous glands. When PA was added to cultured human sebocytes, caspase-1 activation and IL-1β secretion were significantly enhanced. In addition, NLRP3 knockdown attenuated IL-1β production by sebocytes stimulated with PA. PA-mediated inflammasome activation required reactive oxygen species. @*Conclusion@#These findings indicate that PA activates the NLRP3 inflammasome before induction of an inflammatory response in sebocytes. Thus, PA may play a role in the inflammation of acne