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1.
Annals of Dermatology ; : 165-172, 2023.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-976634

RESUMO

Background@#The exact definition of sensitive skin is not established yet. Since its high prevalence and significant influence on quality of life, it has become an important topic of research. Among various ingredients, conditioned media from umbilical cord blood-derived mesenchymal stem cells (UCB-MSC-CM) can be a promising source for the treatment of sensitive skin. @*Objective@#We evaluated the efficacy and safety of UCB-MSC-CM on patients with sensitive skin. @*Methods@#We designed a randomized, single blinded, prospective, split-face comparison study and enrolled thirty patients. All patients underwent nonablative fractional laser over the entire face before UCB-MSC-CM or normal saline was applied. Each facial area was randomly assigned to undergo treatment with either UCB-MSC-CM or normal saline. We performed three sessions at two-week intervals, and final results were assessed on six weeks after the last session. As an outcome measure, we evaluated a five-point global assessment scale, transepidermal water loss (TEWL), erythema index (EI) and Sensitive Scale-10. Twenty seven subjects were included in final analysis. @*Results@#The treated side exhibited greater improvement compared to the untreated side based on a five-point global assessment scale. TEWL, EI of the treated side were significantly lower than those of the untreated side throughout study period. Sensitive Scale-10 was significantly improved after treatment. @*Conclusion@#The application of UCB-MSC-CM resulted in improved skin barrier function and reduced inflammatory responsiveness, which could provide beneficial effect on sensitive skin.

2.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-1002214

RESUMO

Background@#Rosacea is a chronic inflammatory facial disorder, leading to impaired skin barrier function. Many factors, including skin care habits, affect its occurrence and progress. @*Objective@#This study aimed to investigate clinical manifestation and aggravating factors of rosacea, focusing on skin care habits and lifestyle and to compare them with those of acne patients. @*Methods@#We conducted a cross-sectional survey among 222 patients with rosacea and 127 with acne who visited a university hospital and local dermatologic clinic between July 2021 and June 2022. The patients answered questionnaires consisting of information, such as demographic characteristics, clinical symptoms and signs, skin care habits, and aggravating factors. @*Results@#Age distribution of the patients with rosacea showed a peak incidence among those in their twenties, and the most common comorbidity was metabolic disease. The most common symptom and sign was itching, followed by burning sensation. Regarding skin care habits, 72.8% and 45.0% of the patients practiced excessive cleansing and double cleansing, respectively. The most frequently-used cleanser and basic cosmetic were foaming cleanser (77.5%) and toner (57.5%), respectively. Foundation was used by nearly half of the woman, many of whom used liquid type.Irregular or insufficient sleep and food were the two most common aggravating factor. When compared to patients with acne patients, those with rosacea tended to carry more systemic comorbidities and practiced double cleansing with basic cosmetics more actively. @*Conclusion@#It is important for clinicians to understand various factors affecting occurrence and aggravation of rosacea and educate patients on appropriate skin care habits and lifestyle.

3.
Iran J Biotechnol ; 20(3): e3177, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36381282

RESUMO

Background: In Escherichia coli (E. coli) culture, acetate accumulates as an undesirable by-product of aerobic fermentation on glucose and inhibits cell growth and recombinant protein production. Objectives: We examined whether the heterologous expression of a eukaryotic heat shock protein (Hsp) can confer tolerance to acetate in E. coli. Materials and Methods: Transgenic cell lines (TCLs) heterologously expressing a small heat shock protein (sHsp) from carrot (Daucus carota L.), DcHsp17.7, were exposed to heat, sodium acetate, and alkaline conditions. The cell growth and cell viability were examined by measuring O.D.600 and colony-forming units (CFU), respectively. The His-tagged recombinant alcohol dehydrogenase (ADH) gene cloned in a pET11a expression vector was introduced into TCL1 and expressed by isopropyl ß-D-1-thiogalactopyranoside treatment. After purifying using Ni-NTA affinity chromatography, its accumulation levels were examined using SDS-PAGE in the presence of acetate. Results: TCLs constitutively expressing DcHsp17.7 showed improved growth, cell density, and cell viability under the stress conditions of heat, acetate, and alkaline compared to an empty vector control line. In acetate stress conditions, TCL1 accumulated more cellular proteins (approximately 130%) than the control. The recombinant ADH accumulated to a higher level in TCL1 (2.2-fold at 16 °C) than the control. The addition of acetate reduced the recombinant ADH level by 70% in the control when compared with the absence of acetate. In contrast, recombinant ADH accumulation was not affected by acetate in TCL1. In the presence of acetate, TCL1 accumulated 6.4-fold more recombinant ADH than did the control. Furthermore, recombinant ADH produced in TCL1 showed 1.5-fold higher enzyme activity than that produced in the control in the presence or absence of acetate. Conclusion: Our study showed that heterologously expressed DcHsp17.7 from carrot can alleviate the negative effects of acetate on E. coli.

4.
Leg Med (Tokyo) ; 54: 101992, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34814096

RESUMO

The recent studies reported that DNA methylation markers show changes with age, and expected that the DNA methylation markers can be effectively used for estimation of age in forensic genetics. In this study, we applied droplet digital PCR (ddPCR) method to investigate the DNA methylation pattern in the CpG sites, and we constructed an age prediction model based on the ddPCR method. The ddPCR is capable of highly sensitive quantitation of nucleic acid and detection of sequence variations in gene by separating the sample into large number of partitions and clonally amplifying nucleic acids in each partition. We extracted DNA from saliva samples collected from several age groups. The DNA was bisulfite converted and subjected to ddPCR using specifically designed primers and probes. The methylation ratio of each sample was calculated and correlation between the methylation ratio and the chronological age was analyzed. In the results, methylated DNA ratio at the 4 CpG sites (cg14361627, cg14361627, cg08928145 and cg07547549) showed strong correlation with chronological age. Percent-methylation values at 4 CpG markers and chronological ages of the 76 individuals were analyzed by multiple regression analysis, and we constructed an age prediction model. We observed a strong correlation (Spearman's rho = 0.922) between predicted and chronological ages of 76 individuals with a MAD from chronological age of 3.3 years. Collectively, the result in this study showed the potential applicability of ddPCR to predict age from saliva.


Assuntos
Metilação de DNA , Saliva , Pré-Escolar , Ilhas de CpG/genética , Genética Forense , Marcadores Genéticos , Humanos , Reação em Cadeia da Polimerase
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-926637

RESUMO

Background@#Rosacea is a common chronic inflammatory disorder that affects the skin of the central face. Anxiety sensitivity (AS) refers to the fear of sensations and symptoms arising from an expected experience of anxiety. High AS can cause anxiety disorders. Several studies have evaluated depression in patients with rosacea; however, AS has not yet been investigated. @*Objective@#We aimed to investigate AS, depression, and quality of life in patients with rosacea. @*Methods@#Eighty-five patients with rosacea and 85 controls (aged>18 years) were enrolled in the study. The severity of rosacea was evaluated according to the standard guidelines of the National Rosacea Society. Patients with rosacea and controls were asked to complete the Korean version of the anxiety sensitivity index-revised (ASI-R), beck depression inventory (BDI), and dermatology life quality index (DLQI). @*Results@#The ASI, BDI, and DLQI scores were significantly higher in patients with rosacea than in controls (p< 0.001). In particular, the cardiovascular subscale of the ASI was significantly increased in patients with rosacea. The ASI and BDI scores were significantly correlated. DLQI scores were weakly correlated with ASI compared with BDI scores in patients with rosacea. @*Conclusion@#Our study is the first to report that AS is elevated in patients with rosacea. It is necessary to consider the anxiety-related symptoms of patients with rosacea, as they may benefit from psychological intervention to alleviate distress.

6.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-926606

RESUMO

Disseminated superficial actinic porokeratosis (DSAP) is a type of porokeratosis that is characterized by multiple small lesions on the sun-exposed areas of the body. The presence of dermal amyloid deposition associated with disseminated superficial porokeratosis has rarely been reported in the literature. A 69-year-old female presented to our department with multiple pruritic brownish macules. Physical examination revealed scattered 2∼3-mm-sized, brownish-colored, round to annular macules limited to the sun-exposed areas, such as the forearms, lower legs, and upper trunk. Dermoscopy revealed a peripheral rim and central white hub surrounded by brown pigmentation. Skin biopsy of the leg showed not only the typical finding of DSAP, including the cornoid lamella, but also deposits of eosinophilic amorphous materials in the dermis. After Congo red staining, the dermal deposits were confirmed to be amyloid. Herein, we report a rare case of DSAP with dermal amyloid deposition and dermoscopic presentation.

7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-918221

RESUMO

Objective@#This study aimed to evaluate the image quality and dose reduction of low-dose three-dimensional (3D) rotational angiography (RA) for evaluating intracranial aneurysms. @*Materials and Methods@#We retrospectively evaluated the clinical data and 3D RA datasets obtained from 146 prospectively registered patients (male:female, 46:100; median age, 58 years; range, 19–81 years). The subjective image quality of 79 examinations obtained from a conventional method and 67 examinations obtained from a low-dose (5-seconds and 0.10-μGy/frame) method was assessed by two neurointerventionists using a 3-point scale for four evaluation criteria. The total image quality score was then obtained as the average of the four scores. The image quality scores were compared between the two methods using a noninferiority statistical testing, with a margin of -0.2 (i.e., score of low-dose group – score of conventional group). For the evaluation of dose reduction, dose-area product (DAP) and air kerma (AK) were analyzed and compared between the two groups. @*Results@#The mean total image quality score ± standard deviation of the 3D RA was 2.97 ± 0.17 by reader 1 and 2.95 ± 0.20 by reader 2 for conventional group and 2.92 ± 0.30 and 2.95 ± 0.22, respectively, for low-dose group. The image quality of the 3D RA in the low-dose group was not inferior to that of the conventional group according to the total image quality score as well as individual scores for the four criteria in both readers. The mean DAP and AK per rotation were 5.87 Gy-cm2 and 0.56 Gy, respectively, in the conventional group, and 1.32 Gy-cm2 (p < 0.001) and 0.17 Gy (p < 0.001), respectively, in the low-dose group. @*Conclusion@#Low-dose 3D RA was not inferior in image quality and reduced the radiation dose by 70%–77% compared to the conventional 3D RA in evaluating intracranial aneurysms.

8.
Korean Circulation Journal ; : 110-122, 2022.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-917379

RESUMO

Pulmonary hypertension is a rare and progressive illness with a devastating prognosis. Promising research efforts have advanced the understanding and recognition of the pathobiology of pulmonary hypertension. Despite remarkable achievements in terms of improving the survival rate, reducing disease progression, and enhancing quality of life, pulmonary arterial hypertension (PAH) is not completely curable. Therefore, an effective treatment strategy is still needed. Recently, many studies of the underlying molecular mechanisms and technological developments have led to new approaches and paradigms for PAH treatment. Management based on stem cells and related paracrine effects, epigenetic drugs and gene therapies has yielded prospective results for PAH treatment in preclinical research. Further trials are ongoing to optimize these important insights into clinical circumstances.

9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-915501

RESUMO

Poor graft function (PGF) is a serious, potentially life-threatening complication of allogeneic hematopoietic stem cell transplantation. Eltrombopag has shown multilineage responses in patients with refractory severe aplastic anemia, supporting the idea that it may improve cytopenia in patients with PGF. This retrospective, single center analysis included 8 Korean patients receiving eltrombopag for PGF. Median interval between transplant and eltrombopag treatment was 73 days, and the median duration treatment was 3.5 weeks.With median maximum daily dose of 50 mg, the time to best response was 93 days. Median hemoglobin increased from 8.2 g/dL to 10.9 g/dL, platelet from 18.5 × 109 /L to 54 × 109 /L, and absolute neutrophil count from 1.25 × 109 /L to 3.32 × 109 /L. In conclusion, eltrombopag is a good option for PGF in Korean patients, even at a lower dose compared to western patients.

10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-938768

RESUMO

Objective@#To assess focal mineral deposition in the globus pallidus (GP) by CT and quantitative susceptibility mapping (QSM) of MRI scans and evaluate its clinical significance, particularly cerebrovascular degeneration. @*Materials and Methods@#This study included 105 patients (66.1 ± 13.7 years; 40 male and 65 female) who underwent both CT and MRI with available QSM data between January 2017 and December 2019. The presence of focal mineral deposition in the GP on QSM (GPQSM) and CT (GPCT) was assessed visually using a three-point scale. Cerebrovascular risk factors and small vessel disease (SVD) imaging markers were also assessed. The clinical and radiological findings were compared between the different grades of GPQSM and GPCT. The relationship between GP grades and cerebrovascular risk factors and SVD imaging markers was assessed using univariable and multivariable linear regression analyses. @*Results@#GPCT and GPQSM were significantly associated (p < 0.001) but were not identical. Higher GPCT and GPQSM grades showed smaller gray matter (p = 0.030 and p = 0.025, respectively) and white matter (p = 0.013 and p = 0.019, respectively) volumes, as well as larger GP volumes (p < 0.001 for both). Among SVD markers, white matter hyperintensity was significantly associated with GPCT (p = 0.006) and brain atrophy was significantly associated with GPQSM (p = 0.032) in at univariable analysis. In multivariable analysis, the normalized volume of the GP was independently positively associated with GPCT (p < 0.001) and GPQSM (p = 0.002), while the normalized volume of the GM was independently negatively associated with GPCT (p = 0.040) and GPQSM (p = 0.035). @*Conclusion@#Focal mineral deposition in the GP on CT and QSM might be a potential imaging marker of cerebral vascular degeneration. Both were associated with increased GP volume.

11.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-938705

RESUMO

Purpose@#Macular edema including cystoid macular edema is one of the main causes of unfavorable visual outcomes after cataract surgery. The macular thickness and the occurrence of macular edema after uncomplicated cataract surgery was evaluated using optical coherence tomography (OCT) in this study. @*Methods@#Macular map images were taken by OCT before surgery and at 1 week, 1 month, and 2 months postsurgery. The subjects were classified into two groups (group 1, patients with no macular edema; group 2, patients with macular edema). Group 2 was defined as increase in central macular thickness (CMT) by 30% compared with that before surgery. The risk factors for macular edema were evaluated. Group 2 was divided into two subgroups: subclinical macular edema (group 2A) and cystoid macular edema (group 2B) and they were assessed in terms of the clinical course of best-corrected visual acuity and CMT. @*Results@#A total of 376 patients were enrolled in this study, of which 36 (9.57%, group 2) showed macular edema measured by OCT after the surgery. Univariate analysis for group 1 and 2 revealed that intracameral injection of epinephrine during phacoemulsification was associated with the development of macular edema. In group 2, five patients (1.33%) developed cystoid macular edema. Statistically significant differences in the clinical course of CMT were observed at 2 months (201.2 ± 23.1, 250.0 ± 29.8, and 371.0 ± 160.3 in group 1, group 2A, and group 2B, respectively; p 0.2 with CMT in the normal range. @*Conclusions@#The intracameral injection of epinephrine may cause macular edema after uncomplicated cataract surgery. Examination of CMT using OCT is recommended for the early detection of macular edema.

12.
Korean Circulation Journal ; : 606-620, 2022.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-938447

RESUMO

Background and Objectives@#Protein-losing enteropathy (PLE) is a devastating complication after the Fontan operation. This study aimed to investigate the clinical characteristics, treatment response, and outcomes of Fontan-associated PLE. @*Methods@#We reviewed the medical records of 38 patients with Fontan-associated PLE from 1992 to 2018 in 2 institutions in Korea. @*Results@#PLE occurred in 4.6% of the total 832 patients after the Fontan operation. After a mean period of 7.7 years after Fontan operation, PLE was diagnosed at a mean age of 11.6years. The mean follow-up period was 8.9 years. The survival rates were 81.6% at 5 years and 76.5% at 10 years. In the multivariate analysis, New York Heart Association Functional classification III or IV (p=0.002), low aortic oxygen saturation (<90%) (p=0.003), and ventricular dysfunction (p=0.032) at the time of PLE diagnosis were found as predictors of mortality. PLE was resolved in 10 of the 38 patients after treatment. Among medical managements, an initial heparin response was associated with survival (p=0.043). Heparin treatment resulted in resolution in 4 patients. We found no evidence on pulmonary vasodilator therapy alone. PLE was also resolved after surgical Fontan fenestration (2/6), aortopulmonary collateral ligation (1/1), and transplantation (1/1). @*Conclusions@#The survival rate of patients with Fontan-associated PLE has improved with the advancement of conservative care. Although there is no definitive method, some treatments led to the resolution of PLE in one-fourth of the patients. Further investigations are needed to develop the best prevention and therapeutic strategies for PLE.

13.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-937293

RESUMO

Some cases of plaster ingestion include the occurrence of gastrointestinal obstruction that requires surgery. To date, there are no reports on the treatment of plaster lesions in the mouth. A 50-year-old woman was referred to the emergency department after intentionally drinking a solution of approximately 100 g of plaster powder in 250 mL of water, 3 hours earlier. On arrival, the patient was alert but unable to speak because the plaster had hardened in her mouth. Hardened plaster was also found in her stomach. There was no evidence of acute gastrointestinal obstruction on abdominal computed tomography; we therefore decided to perform surgical observation. The intraoral plaster lesions were successfully removed using forceps, and the plaster bezoar was successfully eliminated without surgical treatment. The present case shows that not all patients with plaster poisoning require surgery; the patient’s conditions, such as gastrointestinal obstruction, should indicate the course of treatment.

14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-937229

RESUMO

Hyaluronic acid (HA), a ligand of CD44, accumulates in some types of tumors and is responsible for tumor progression. The nuclear factor erythroid 2-like 2 (NRF2) regulates cytoprotective genes and drug transporters, which promotes therapy resistance in tumors. Previously, we showed that high levels of CD44 are associated with NRF2 activation in cancer stem like-cells. Herein, we demonstrate that HA production was increased in doxorubicin-resistant breast cancer MCF7 cells (MCF7-DR) via the upregulation of HA synthase-2 (HAS2). HA incubation increased NRF2, aldo-keto reductase 1C1 (AKR1C1), and multidrug resistance gene 1 (MDR1) levels. Silencing of HAS2 or CD44 suppressed NRF2 signaling in MCF7-DR, which was accompanied by increased doxorubicin sensitivity. The treatment with a HAS2 inhibitor, 4-methylumbelliferone (4-MU), decreased NRF2, AKR1C1, and MDR1 levels in MCF7-DR. Subsequently, 4-MU treatment inhibited sphere formation and doxorubicin resistance in MCF7-DR. The Cancer Genome Atlas (TCGA) data analysis across 32 types of tumors indicates the amplification of HAS2 gene is a common genetic alteration and is negatively correlated with the overall survival rate. In addition, high HAS2 mRNA levels are associated with increased NRF2 signaling and poor clinical outcome in breast cancer patients. Collectively, these indicate that HAS2 elevation contributes to chemoresistance and sphere formation capacity of drug-resistant MCF7 cells by activating CD44/ NRF2 signaling, suggesting a potential benefit of HAS2 inhibition.

15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-927072

RESUMO

This study was done to provide an overview of the latest trichomoniasis status in Korea by finding disease clusters and analyzing temporal trends during 2012-2020. Data were obtained from the Health Insurance Review & Assessment Service (HIRA) of Korea. SaTScan and Joinpoint programs were used for statistical analyses. Gyeonggi-do had the highest average population and highest number of cases. The high incidence of T. vaginalis infections were observed among women aged 40-49 and 30-39 years (33,830/year and 33,179/year, respectively). Similarly, the 40-49 and 30-39 age group in men showed the highest average cases (1,319/year and 1,282/year, respectively). Jeollabuk-do was the most likely cluster, followed by Busan/Gyeongsangnam-do/Ulsan/Daegu and Jeju-do and Gwangju. Urban and rural differences were prominent. Trichomoniasis has decreased significantly in most clusters, except for Incheon. Trichomoniasis was decreasing in women recently after peaking around 2014. Men showed different trends according to age. Trichomoniasis was increasing in the 10-39 age groups, but decreasing in the 40-59 age groups. This study might provide an analytic basis for future health measures, policy-makers, and health authorities in developing effective system for prevention of trichomoniasis.

16.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-894238

RESUMO

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant inherited genetic cutaneous disorder characterized by connective tissue nevi that may or may not be accompanied by sclerotic bone lesions (osteopoikilosis). BOS is caused by loss-of-function mutations in LEMD3. Skin lesions appear in childhood and may increase in size and number with age and primarily manifest as yellow or skin-colored plaques or papules. A 21-year-old male presented with brownish, firm plaques on his back and buttocks since childhood. He revealed a history of similar skin lesions in his mother and brother. He was incidentally diagnosed with osteopoikilosis, 2 years prior to presentation. Histopathological examination of a skin biopsy specimen revealed increased collagenous stroma. We report a rare case of Buschke-Ollendorff syndrome that presented with brownish plaques.

17.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-919317

RESUMO

The objective of this study was to evaluate the efficacy of an imidacloprid 10% and flumethrin 4.5% polymer matrix collar against the developmental stages of Haemaphysalis longicornis infesting dogs using the hair from treated dogs in a semi-in-vitro assay set. When incubated with 0.5 g of the hair collected from the dogs installed with the drug-embedded collar after 10 days, average death rate of the larval, nymphal, and adult H. longicornis was 21.5%, 77.9%, and 100% at 30 min, 1 hr, and 2 hr, respectively. This study showed the larval stages as well as the nymphal and adult stages of H. longicornis ticks are killed upon contact with the hair from dogs treated with the collar within 2 hr.

18.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-919303

RESUMO

This study was done to provide an analytical overview on the latest malaria infection clusters by evaluating temporal trends during 2010-2019 in Korea. Incheon was the most likely cluster (MLC) for all cases of malaria during the total period. MLCs for P. falciparum, vivax, malariae, ovale, and clinically diagnosed malaria without parasitological confirmation were Jeollanam-do, Incheon, Gangwon-do, Gyeongsangnam-do, and Jeollabuk-do, respectively. Malaria was decreasing in most significant clusters, but Gwangju showed an increase for all cases of malaria, P. vivax and clinically diagnosed cases. Malaria overall, P. falciparum and P. vivax seem to be under control thanks to aggressive health measures. This study might provide a sound scientific basis for future control measures against malaria in Korea.

19.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-913378

RESUMO

Background@#Nasotracheal intubation is generally performed for intraoral surgery.Case: A 34-year-old female patient who underwent orthognathic surgery exhibited repeated endotracheal tube cuff tears during nasotracheal intubation. After intubation, leaks developed, and torn endotracheal cuff was observed in the removed endotracheal tube. Subsequently, re-intubation through the same nasal cavity was performed immediately, but leakage from the torn endotracheal tube cuff was re-observed. A leakage test of the extubated tube revealed air bubbles and leaks near the tube cuff due to the tear. Nasotracheal intubation was performed through the other nasal cavity, and there were no leakage findings or abnormalities. During the course of the surgery, the surgeon noticed that the orthodontic micro-implant deposited in the mid-tube cavity was exposed to the nasal cavity. @*Conclusions@#We aimed to emphasize caution and discuss the possibility that orthodontic micro-implants that are not confirmed during preoperative evaluation may cause repeated endotracheal tube cuff tears.

20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-901942

RESUMO

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant inherited genetic cutaneous disorder characterized by connective tissue nevi that may or may not be accompanied by sclerotic bone lesions (osteopoikilosis). BOS is caused by loss-of-function mutations in LEMD3. Skin lesions appear in childhood and may increase in size and number with age and primarily manifest as yellow or skin-colored plaques or papules. A 21-year-old male presented with brownish, firm plaques on his back and buttocks since childhood. He revealed a history of similar skin lesions in his mother and brother. He was incidentally diagnosed with osteopoikilosis, 2 years prior to presentation. Histopathological examination of a skin biopsy specimen revealed increased collagenous stroma. We report a rare case of Buschke-Ollendorff syndrome that presented with brownish plaques.

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