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The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots.
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Background@#Topical medications play a crucial role in the treatment of atopic dermatitis (AD). Topical corticosteroids (TCSs) remain the main treatment of choice and topical antibiotics have also been used. However, with the new topical calcineurin inhibitors (TCIs), the prescription patterns of topical agents have changed over time. @*Objective@#To characterize the prescription patterns of topical medications in Korean patients with AD. @*Methods@#We investigated topical medications prescribed to Korean patients with AD using the National Health Insurance Sharing System (NHISS) database over a 14-year period (2002~2015). Additionally, the potency of prescribed TCSs was compared with AD and psoriasis patients. @*Results@#The annual prescription of TCSs showed a slightly decreasing trend without significant change. In particular, in terms of steroid class, prescription of moderate-to-low potency TCSs were increased and the use of high potency TCSs were decreased. TCSs were the most commonly prescribed topical medications for AD. Tertiary hospitals had a higher prescription rate for TCIs than secondary or primary hospitals (16.2%, 3.1%, and 1.9%, respectively). Additionally, dermatologists prescribed TCIs more frequently than pediatricians and internists (4.3%, 1.2%, and 0.6%, respectively). Among TCSs, Class 5 was prescribed the most (40.6%) followed by Class 7, 6, 4, 3, 1, and 2. When we compared the potency of TCSs prescribed for AD with psoriasis patients, moderate-to-low-potency TCSs were more commonly prescribed in AD. @*Conclusion@#Prescription patterns of topical medications had changed from 2002 to 2015 and differed according to the type of institution and specialty of the physician.
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Dupilumab, a human monoclonal antibody targeting the interleukin-4 receptor α, has exhibited rapid and remarkable therapeutic efficacy in numerous clinical trials focusing on moderate-to-severe atopic dermatitis and prurigo nodularis. Nonetheless, instances of mycosis fungoides have been reported in patients undergoing dupilumab treatment for atopic dermatitis. We present two cases: a 36-year-old woman and a 64-year-old man who presented to our dermatology clinic with erythematous papules and plaques. Following skin biopsy, both patients were diagnosed with chronic eczematous dermatitis with prurigo. Erythematous plaques notably increased after 9 months and 1 month of dupilumab treatment, respectively. Subsequent biopsies confirmed histopathological markers consistent with mycosis fungoides. The first patient underwent chemotherapy for lymph node metastasis, while the second received oral acitretin, narrow-band ultraviolet B, and topical corticosteroids.
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Acanthosis nigricans (AN) is characterized by velvety hyperpigmented plaques, usually observed in skin folds. The different types of the condition include obesity-associated, syndromic, drug-induced, malignancy-related, and other types of AN. AN, an FGFR3 gene mutation-related disease, is associated with varying degrees of skeletal disorders. FGFR3 gene mutations are known to cause excessive inhibition of chondrocyte growth and keratinocyte proliferation, which is responsible for AN development. To our knowledge, only a small number of cases of AN with hypochondroplasia due to FGFR3 gene mutation (p.Lys650Thr) have been described in the literature. However, there are no reports of genetically confirmed AN with hypochondroplasia in Korea. Physicians should consider syndromic AN when symptoms develop at an early age or when associated skeletal anomalies are present.
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Psoriasis is a common immune-mediated skin disease. Myasthenia gravis and Graves’ disease are autoimmune diseases caused by autoantibodies against receptors located at the neuromuscular junction and thyroid-stimulating hormone receptor, respectively. A 29-year-old male presented with recurrent multiple erythematous scaly papules and plaques on his legs that had persisted for 3 years. A diagnosis of plaque psoriasis was made based on clinicopathological findings. The patient had a 26-year history of ocular myasthenia gravis, for which he had not been received any specific treatment. He also had a long history of Graves’ disease. To the best of our knowledge, psoriasis with myasthenia gravis and Graves’ disease has not been reported previously in the literature. Herein, we describe our examination of the causes of concurrent psoriasis, myasthenia gravis, and Graves’ disease.
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Background@#Risankizumab, human immunoglobulin G1λ monoclonal antibody, selectively blocks the p19 subunit of interleukin-23-mediated signaling pathway. Risankizumab has emerged as an effective and well-tolerated therapeutic option for moderate-to-severe psoriasis. However, real-world data on treatment outcomes of risankizumab in Korean patients with psoriasis are limited. @*Objective@#To investigate the efficacy and safety of risankizumab in Korean patients with moderate-to-severe plaque psoriasis. @*Methods@#We retrospectively reviewed patients with moderate-to-severe psoriasis who were treated with risankizumab in our hospital from July 2020 to December 2022. A total of 45 patients with psoriasis who were treated with risankizumab for at least 16 weeks were included in this study. Patient demographics, Psoriasis Area and Severity Index (PASI) scores, Investigator’s Global Assessment scores, and adverse events were assessed. @*Results@#The mean baseline PASI score (13.1±7.7) was significantly decreased after 16 weeks of risankizumab treatment (0.9±1.4) (p＜0.05). Of the 45 patients, 40 showed a PASI 90 response at the last follow-up visit. No serious adverse events were observed. Three patients (6.7%) experienced mild adverse events such as injection site reaction, easy bruising, and headache. @*Conclusion@#Our real-world data demonstrated that risankizumab treatment is effective and safe in Korean patients with moderate-to-severe plaque psoriasis.
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Weathering nodules are benign skin conditions of the ear typically occurring in patients with a history of persistent sun exposure. Clinically, they appear as multiple localized, skin-colored to whitish papules or nodules in the ear helix. Histopathologically, weathering nodules are characterized by chondroid metaplasia with spurs of fibrous tissue extending upward from the disrupted perichondrium of the underlying pinna cartilage. We report the case of a 19-year-old man who presented with multiple localized whitish papules on the right ear helix for a month. The lesions were asymptomatic and accompanied by a blanch sign. Histopathological examination revealed chondroid metaplasia in the dermis, separate from the pinna cartilage. Based on the clinicopathological findings, weathering nodules of the ear was diagnosed.
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Hystrix-like ichthyosis and deafness (HID) syndrome is a rare ectodermal dysplasia characterized by erythrokeratoderma and hearing impairments. HID syndrome is a nonocular variant of keratitis ichthyosis deafness (KID) syndrome caused by an autosomal dominant mutation in the gap junction protein β 2 (GJB2) gene. The GJB2 gene encodes connexin 26, a transmembrane protein involved in cell–cell attachment in almost all tissues. We report a case of a 25-year-old man with generalized hyperkeratotic plaques, diffuse palmoplantar keratoderma, and nail deformities since birth. The patient also had a history of recurrent bacterial skin infections in the existing hyperkeratotic lesions. Histopathological examination revealed compact hyperkeratosis and irregular acanthosis in the epidermis, along with upper dermal lymphocytic infiltration. Audiometry revealed high-frequency sensorineural hearing loss. Genetic analysis revealed a missense mutation in the GJB2 gene. Based on clinicopathological findings and genetic testing, HID syndrome was diagnosed.
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Background@#Dupilumab is a human monoclonal antibody against interleukin-4 receptor α. Several clinical trials have demonstrated the rapid and excellent therapeutic effects of dupilumab. Although a growing number of studies have reported data on the real-world efficacy and safety of dupilumab for the treatment of atopic dermatitis, data on real-world experiences in Korea are limited. @*Objective@#To evaluate the real-world efficacy and safety of dupilumab for the treatment of moderate-to-severe atopic dermatitis in Korean patients. @*Methods@#This was a retrospective, single-center study. A total of 179 patients treated with dupilumab for at least 16 weeks were enrolled in this study. Based on electronic medical records, the clinical characteristics, Eczema Area and Severity Index (EASI) score, and adverse events were investigated. @*Results@#The mean baseline EASI score (26.5±7.2) significantly decreased at weeks 16, 40, 52, and 112 (p＜0.05). All and 55.2% of patients achieved EASI75 and EASI90 responses at week 52, and all and 75.0% of patients achieved EASI75 and EASI90 responses at week 112, respectively. Common adverse events were facial erythema (31.8%), conjunctivitis (24.0%), and herpes simplex virus infection (11.2%). Three serious adverse events of severe conjunctivitis, mycosis fungoides, and mesenteric venous thrombosis resulted in discontinuation of dupilumab. @*Conclusion@#Dupilumab was effective in real-world clinical practice with a favorable safety profile in Korean patients with moderate-to-severe atopic dermatitis.
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Background@#Patients with long-standing psoriasis who are not treated with conventional medicine seek complementary and alternative medicine (CAM). The biological revolution in the field of psoriasis since the late 2000s has progressed, expecting clearance or almost clearance of the disease. The frequency and type of CAM usage may have changed after these advances. We aimed to investigate changes in CAM use in Korean patients with psoriasis before and after the prevalent use of biologics. @*Methods@#Patients with psoriasis who visited Pusan National University Hospitals (Busan and Yangsan) between March 2020 and June 2022 were made to complete a face-to-face structured questionnaire. These results were compared with our previous study conducted approximately 10 years ago. @*Results@#In total, 207 patients were included. Compared with the previous results, the frequency of CAM use (67.6%) increased (P < 0.001). Oriental medicine (67.1%) has most commonly been used, followed by health supplements and bath therapy. The biggest reason for using CAM was “to try all the potential treatments.” Meanwhile, negative concerns about conventional medicine (13.5%) significantly decreased during the 10-year period (P < 0.001). @*Conclusion@#Although treatment efficacy has increased with biologics development, CAM usage remains prevalent among Korean patients with psoriasis. Therefore, dermatologists need more efforts to improve patients’ understanding of conventional medicine, including biologics.
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Objective@#Dysphagia is a common symptom of stroke and affects 23–50% of such patients. In addition, bulbar involvement, which causes dysphagia, is the primary initial symptom in approximately 25–30% of amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to compare patterns of swallowing difficulties in stroke and ALS patients. @*Methods@#We retrospectively recruited 84 ALS patients with dysphagia and 294 stroke patients with dysphagia between January 2017 and December 2019. Swallowing processes were reviewed by videofluoroscopic swallowing studies (VFSSs). The presence of oral residues and oral transit times (OTTs) were measured in the oral phase, and the presence of penetration and aspiration and residues in valleculae or pyriform sinuses were evaluated. Statistical analysis was performed using SPSS 25.0 and comparisons using the Chi-square test. @*Results@#ALS patients more frequently had delayed OTTs and oral residues than stroke patients, and stroke patients more frequently experienced aspiration and had delayed thin liquid pharyngeal transit times (PTTs). However, no significant intergroup difference was observed for the presence of penetration, residues in valleculae or pyriform sinuses, or thick liquid PTTs. @*Conclusion@#The study shows that ALS patients exhibit slower food processing in the oral cavity and more significant bulbar muscle weakness than stroke patients. On the other hand, stroke patients had greater thin liquid aspiration rates than ALS patients. These findings should be considered when choosing treatments for ALS and stroke.
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Objective@#The incidence of hip fractures is increasing worldwide with the aging population, causing a challenge to healthcare systems due to the associated morbidities and high risk of mortality. After hip fractures in frail geriatric patients, existing comorbidities worsen and new complications are prone to occur. Comprehensive rehabilitation is essential for promoting physical function recovery and minimizing complications, which can be achieved through a multidisciplinary approach. Recommendations are required to assist healthcare providers in making decisions on rehabilitation post-surgery. Clinical practice guidelines regarding rehabilitation (physical and occupational therapies) and management of comorbidities/complications in the postoperative phase of hip fractures have not been developed. This guideline aimed to provide evidence-based recommendations for various treatment items required for proper recovery after hip fracture surgeries. Methods Reflecting the complex perspectives associated with rehabilitation post-hip surgeries, 15 key questions (KQs) reflecting the complex perspectives associated with post-hip surgery rehabilitation were categorized into four areas: multidisciplinary, rehabilitation, community-care, and comorbidities/complications. Relevant literature from four databases (PubMed, EMBASE, Cochrane Library, and KoreaMed) was searched for articles published up to February 2020. The evidence level and recommended grade were determined according to the grade of recommendation assessment, development, and evaluation method. Results A multidisciplinary approach, progressive resistance exercises, and balance training are strongly recommended. Early ambulation, weigh-bearing exercises, activities of daily living training, community-level rehabilitation, management of comorbidities/complication prevention, and nutritional support were also suggested. This multidisciplinary approach reduced the total healthcare cost. @*Conclusion@#This guideline presents comprehensive recommendations for the rehabilitation of adult patients after hip fracture surgery.
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Objective@#The incidence of hip fractures is increasing worldwide with the aging population, causing a challenge to healthcare systems due to the associated morbidities and high risk of mortality. After hip fractures in frail geriatric patients, existing comorbidities worsen and new complications are prone to occur. Comprehensive rehabilitation is essential for promoting physical function recovery and minimizing complications, which can be achieved through a multidisciplinary approach. Recommendations are required to assist healthcare providers in making decisions on rehabilitation post-surgery. Clinical practice guidelines regarding rehabilitation (physical and occupational therapies) and management of comorbidities/complications in the postoperative phase of hip fractures have not been developed. This guideline aimed to provide evidence-based recommendations for various treatment items required for proper recovery after hip fracture surgeries. Methods Reflecting the complex perspectives associated with rehabilitation post-hip surgeries, 15 key questions (KQs) reflecting the complex perspectives associated with post-hip surgery rehabilitation were categorized into four areas: multidisciplinary, rehabilitation, community-care, and comorbidities/complications. Relevant literature from four databases (PubMed, EMBASE, Cochrane Library, and KoreaMed) was searched for articles published up to February 2020. The evidence level and recommended grade were determined according to the grade of recommendation assessment, development, and evaluation method. Results A multidisciplinary approach, progressive resistance exercises, and balance training are strongly recommended. Early ambulation, weigh-bearing exercises, activities of daily living training, community-level rehabilitation, management of comorbidities/complication prevention, and nutritional support were also suggested. This multidisciplinary approach reduced the total healthcare cost. @*Conclusion@#This guideline presents comprehensive recommendations for the rehabilitation of adult patients after hip fracture surgery.
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Guillain-Barre syndrome (GBS) is acute inflammatory demyelinating polyradiculoneuropathy, which is often related to post-infectious etiology. However, GBS has also been reported to be caused by non-infectious factors such as trauma. This report describes a rare case of post-traumatic GBS with dramatic response to immunoglobulin therapy. And here, we also discussed about the importance of differential diagnosis with critical illness polyneuropathy.
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Whole-body vibration exercise (WBVe) can provide proper somatosensory stimulation and improve muscle strength in stroke patients. This study investigated the effects of WBVe on gait function and cortical activity in patients with chronic stroke. Thirty stroke patients were randomly assigned to either the WBVe or the control group. The WBVe group received the vibration in a half-squat position for 5 minutes at an intensity of 20 Hz. The control group kept the same posture but did not receive the vibration. Cortical activity was investigated using functional near-infrared spectroscopy (fNIRS). Gait function was assessed by a 10-m walk test (10MWT), a timed up and go (TUG) test, a Fugl-Meyer Assessment, and a Tinetti Performance-Oriented Mobility Assessment (TPOMA). In group analysis of the fNIRS data, oxygenated hemoglobin concentration was significantly increased in the ipsilesional supplementary motor area, bilateral sensorimotor cortex, and contralesional prefrontal cortex in the WBVe group compared to the control group (p < 0.05). Functional assessment demonstrated a significant interaction between time and group for the 10MWT and TUG test, suggesting that the WBVe group demonstrated meaningful improvement after intervention (p < 0.05). These results suggested that WBVe modulated the cerebral cortical activities and resulted in improvement of gait function in chronic stroke patients.
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Whole-body vibration exercise (WBVe) can provide proper somatosensory stimulation and improve muscle strength in stroke patients. This study investigated the effects of WBVe on gait function and cortical activity in patients with chronic stroke. Thirty stroke patients were randomly assigned to either the WBVe or the control group. The WBVe group received the vibration in a half-squat position for 5 minutes at an intensity of 20 Hz. The control group kept the same posture but did not receive the vibration. Cortical activity was investigated using functional near-infrared spectroscopy (fNIRS). Gait function was assessed by a 10-m walk test (10MWT), a timed up and go (TUG) test, a Fugl-Meyer Assessment, and a Tinetti Performance-Oriented Mobility Assessment (TPOMA). In group analysis of the fNIRS data, oxygenated hemoglobin concentration was significantly increased in the ipsilesional supplementary motor area, bilateral sensorimotor cortex, and contralesional prefrontal cortex in the WBVe group compared to the control group (p < 0.05). Functional assessment demonstrated a significant interaction between time and group for the 10MWT and TUG test, suggesting that the WBVe group demonstrated meaningful improvement after intervention (p < 0.05). These results suggested that WBVe modulated the cerebral cortical activities and resulted in improvement of gait function in chronic stroke patients.
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BACKGROUND: Protein S deficiency is a common cause of thrombophilia. Free protein S has been suggested as one of the best screening tests for this deficiency. We evaluated an immunoturbidimetric free protein S reagent, INNOVANCE Free Protein S Antigen (Free PS Ag; Siemens Healthcare Diagnostics, Germany), using a CS-5100 coagulation analyzer (Sysmex, Japan). METHODS: The performance of INNOVANCE Free PS Ag was evaluated according to the CLSI guidelines. Precision, linearity, and verification of reference intervals were examined. The INNOVANCE Free PS Ag was also compared by the STA-Liatest Free Protein S immunoturbidimetric assay (Diagnostica Stago, France). RESULTS: The repeatability and within-laboratory imprecision of INNOVANCE Free PS Ag were 0.8% CV and 2.0% CV at the normal level, and 1.3% CV and 2.3% CV at the abnormally low level, respectively. This assay showed linearity from 4.0% to 151.9% (correlation coefficient r=1, P < 0.0001). Reference intervals for males and females were verified as acceptable. INNOVANCE Free PS Ag was comparable with STA-Liatest Free Protein S with a very high correlation (r=0.935, P < 0.0001). The results for the INNOVANCE antigen were higher. CONCLUSIONS: The INNOVANCE Free PS Ag on a Sysmex CS-5100 coagulation analyzer has excellent analytical performance and is comparable with the STA-Liatest Free Protein S assay.
Subject(s)
Female , Humans , Male , Delivery of Health Care , Mass Screening , Protein S Deficiency , Protein S , ThrombophiliaABSTRACT
BACKGROUND: Little knowledge is available on the characteristic differences between patients with atopic dermatitis (AD) with and without atopic march after childhood. OBJECTIVE: To observe and compare the phenotypes of patients with AD in regards to atopic march tendency at a single point. METHODS: We enrolled patients with AD aged between 10 and 30 years. The patients were divided into the atopic march and non-atopic march groups on the basis of an investigator-designed survey questionnaire, and their serum-specific immunoglobulin E (IgE) levels or results of the skin prick test were compared. RESULTS: In a total of 182 patients enrolled in the study, 93 patients with atopic march and 89 patients with non-atopic march were observed. When their serum-specific IgE levels or results of the skin prick test were compared between the two groups, there was no significant difference, except for a in the atopic march group. Analysis of AD severity, family history of allergic diseases, and total IgE levels between the two groups showed no statistically significant differences. CONCLUSION: Our findings suggest that although no apparent phenotype characteristics could differentiate the presence of atopic march, the history of the patient's allergic diseases should be revalidated, and clinicians should watch out for future developments of atopic march when a patient shows a high-class sensitization rate to dust mite.
Subject(s)
Humans , Dermatitis, Atopic , Dust , Immunoglobulin E , Immunoglobulins , Mites , Phenotype , SkinABSTRACT
PURPOSE: Atopic dermatitis (AD) is a chronic eczematous dermatitis that has a high prevalence and diverse clinical features. Although several hypotheses about its multifactorial pathogenesis have been suggested, the cause is not yet fully understood. A better understanding of the clinical features may helpful inelucidating the pathogenesis of AD. METHODS: This retrospective study analyzed the questionnaires, medical charts, and laboratory examination results of 5,000 patients diagnosed with AD at a single tertiary hospital in Korea. RESULTS: The demographics, allergic comorbidities, family history, severity, and treatment experiences of the patients were analyzed. Most of the patients were adults, 76.3% of whom were classified as havingan extrinsic type of AD. The mean eczema area and severity index (EASI) score was found to be 13.68, and adult patients were found to have higher severity than the other age groups. The anatomical involvements were different among the age groups, with more involvements of the head and neck in adults. The patients reported seasonal changes and stress as the factors that aggravated their symptoms the most. Topical steroids and oral cyclosporine were the most used medications at our clinic, whereas 10.1% of the patients underwent allergen-specific immunotherapy. CONCLUSION: This analysis of 5,000 patients would lead to a better understanding of various subtypes and diverse clinical features of AD in Koreans. Distinct characteristics were observed among different age groups; thus, treatment strategies may need to be differentiated accordingly.
Subject(s)
Adult , Humans , Comorbidity , Cyclosporine , Demography , Dermatitis, Atopic , Eczema , Head , Immunotherapy , Korea , Neck , Prevalence , Retrospective Studies , Seasons , Steroids , Tertiary Care CentersABSTRACT
PURPOSE: In extrinsic atopic dermatitis (AD), house dust mites (HDM) play a role in eliciting or aggravating allergic lesions. The nature of skin inflammation in AD has raised a growing interest in allergen-specific immunotherapy (SIT). Thus, we assessed clinical improvement and laboratory parameters for evaluation of the benefit of long-term SIT. MATERIALS AND METHODS: A total of 217 AD patients who were treated with SIT for at least 3 years were retrospectively assessed, by using their investigator global assessment, pruritus scores, loss of sleep (LOS), total serum IgE, and eosinophil counts collected. Patients were additionally classified into subgroups according to age, initial AD severity and mono- or multi-sensitization to include different individual factors in the evaluation of SIT efficacy. Lastly, we compared laboratory data of good responders to SIT with that of poor responders to SIT. RESULTS: Improvement after SIT therapy was observed in 192 out of 217 patients (88.4%). Among these patients, 138 (63.5%) achieved excellent, near-complete or complete clinical remission. Significant reduction of pruritus, LOS, and the mean value of total serum IgE were observed (p0.05). CONCLUSION: We emphasize the usefulness of long-term HDM SIT as a disease-modifying therapy for AD.