Sensitization to textile dyes in Spain: Epidemiological situation (2019-2022).

BACKGROUND: Current frequency and features for positivity to textile dye mix (TDM) in Spain are unknown. OBJECTIVES: To study the frequency, clinical features and simultaneous positivity between TDM, para-phenylenediamine (PPD) and specific disperse dyes. MATERIALS AND METHODS: We analysed all consecutive patients patch-tested with TDM from the Spanish Contact Dermatitis Registry (REIDAC), from 1 January 2019 to 31 December 2022. Within this group, we studied all selected patients patch-tested with a textile dye series. RESULTS: Out of 6128 patients analysed, 3.3% were positive to the TDM and in 34% of them, the sensitization was considered currently relevant. TDM positivity was associated with working as a hairdresser/beautician and scalp, neck/trunk and arm/forearm dermatitis. From TDM-positive patients, 57% were positive to PPD. One hundred and sixty-four patients were patch-tested with the textile dye series. Disperse Orange 3 was the most frequent positive dye (16%). One of every six cases positive to any dye from the textile dye series would have been missed if patch-tested with the TDM alone. CONCLUSIONS: Positivity to TDM is common in Spain and often associated with PPD sensitization. TDM is a valuable marker of disperse dyes allergy that should be part of the Spanish and European standard series.

Sensitization to isothiazolinones in the Spanish Contact Dermatitis Registry (REIDAC): 2019-2021 epidemiological situation.

BACKGROUND: Current frequency and risk factors for sensitization to methylisothiazolinone (MI), methylchloroisothiazolinone/methylisothiazolinone (MCI/MI), benzisothiazolinone (BIT) and octylisothiazolinone (OIT) in Spain are not well known. OBJECTIVES: To study the frequency of sensitization, risk factors and simultaneous sensitization between the four isothiazolinones. MATERIALS AND METHODS: We analysed all 2019-2021 consecutive patients patch-tested with MI (0.2% aq.), MCI/MI (0.02% aq.), BIT (0.1% pet.) and OIT (0.1% pet) within the Spanish Contact Dermatitis Registry (REIDAC). RESULTS: A total of 2511 patients were analysed. Frequencies of sensitization were: any isothiazolinone 15.7%, MI 6.8%, MCI/MI 4.8%, BIT 3.5% and OIT 0.5%. MI and MCI/MI sensitization was associated with being occupationally active, hand dermatitis, detergents and age over 40. BIT sensitization was associated with leg dermatitis and age over 40. About one in nine MI-positive patients were positive to BIT, whereas one in five BIT-positive patients were positive to MI. CONCLUSIONS: Sensitization to MI, MCI/MI and BIT is still common in Spain, while sensitization to OIT is rare. Currently, sensitization to MI and MCI/MI seems to be occupationally related. Although its origin is unknown, sensitization to BIT is more frequent in patients aged over 40 years. Simultaneous sensitization between MI and BIT is uncommon.

Nobody Should Die Alone. Loneliness and a Dignified Death During the COVID-19 Pandemic.

During the direst months of the COVID-19 pandemic, thousands of people died alone. This study analyzes these deaths, which occurred without the presence of loved ones, and seeks to a) examine the significance for relatives, as well as professionals, of dying alone, b) determine if these solitary deaths can be considered dignified, or good deaths, and c) evaluate if the treatment of the cadavers and the funeral rites transpired with the desired dignity and sensitivity. The study was carried out in the autonomous community of Madrid using a qualitative, phenomenological, and interpretative approach through in-depth interviews of 49 informants, professionals and relatives. Interviews were conducted between July and November of 2020, followed by an interpretive, categorical, qualitative analysis. Among the key findings are that during the most critical months, deaths lacked the desired dignity, even though the involved professionals did their best to accompany and dignify the deaths.

Effect of Sex in Systemic Psoriasis Therapy: Differences in Prescription, Effectiveness and Safety in the BIOBADADERM Prospective Cohort.

The effect of sex on systemic therapy for psoriasis has not been well studied. The aim of this study was to analyse a large multicentre Spanish cohort of 2,881 patients with psoriasis (58.3% males), followed from January 2008 to November 2018, to determine whether sex influences prescription, effectiveness of therapy, and the risk of adverse events. The results show that women are more likely than men to be prescribed biologics. There were no differences between men and women in effectiveness of therapy, measured in terms of drug survival. Women were more likely to develop adverse events, but the difference in risk was small and does not justify different management. Study limitations include residual confounding and the use of drug survival as a proxy for effectiveness.

Beyond the Limits: How to Avoid a Surgical Nightmare in the Third and Subsequent Renal Transplantation Procedures.

PURPOSE OF REVIEW: Approximately, 25% of the patients with ESRD will enter the waiting list for kidney transplantation. Among these patients, almost 15% will require a retransplantation surgery. This review aims to summarize the most recent information on different controversial issues regarding retransplantation, to provide the reader with a clear and updated view on the topic. RECENT FINDINGS: Despite current evidence is mainly based on retrospective, small, single-center experiences, it seems clear that retransplantation remains a surgical and immunological challenge, for which the perioperative management still remains crucial to avoid mishaps. Different surgical approaches have been tested, but the general consensus advocates for the heterotopic extraperitoneal in first instance. Although higher immunological risk and complication rates are reported invariably in the available series, the benefits in terms of overall survival are superior to those obtained under dialysis, thus still representing the most recommended option for this group of patients.

Rectourethral Fistula Management.

Rectourethral fistula (RUF) is a rare condition that occurs, in most cases, as a consequence of prostate cancer treatments. Clinical suspicion and proper assessment prior to surgery are essential to adapt and successfully carry out an appropriate treatment plan. There are no randomized trials to guide clinical practice, and therefore, scientific evidence in this respect is limited. Expert recommendations seem to agree on the transperineal approach with flap interposition as the surgical treatment of choice in cases of complex fistulas, especially in those that have undergone prior radiation. Undoubtedly, the key to the successful treatment of the disease is the multidisciplinary and standardized management by physicians with experience in the field.

Penile Prosthesis First and Replacement Surgeries: Analysis of Patient and Partner Satisfaction.

INTRODUCTION: Among the many treatments for erectile dysfunction, implantation of a penile prosthesis has been associated with high patient satisfaction rates. Prosthesis replacement has become an accepted procedure in the event of device malfunction or complications, but to our knowledge, there are no data regarding the impact of implant replacement on patients and partner satisfaction. AIM: The aim of our study was to assess and to compare the level of satisfaction, with a first or second penile prosthesis implantation (PPI), in men with refractory erectile dysfunction and their partners. METHODS: A survey study based on a five-item questionnaire was carried out at our center between January 1999 and January 2012. MAIN OUTCOME MEASURES: The main outcome measure used was the level of patient and partner satisfaction with sexual intercourse after PPI. RESULTS: Of the 190 eligible patients, 149 (78%) completed the survey (110 underwent a first implant and 39 a reimplant). Seventy-nine percent of first-time implanted patients and 80% of the reimplanted patients (P > 0.05; not significant [ns]) reported satisfactory sexual intercourse (very or moderately satisfied), while 74% and 80% of their partners reported satisfactory intercourses, respectively (P > 0.05; ns). Overall, 73.7% of first implants and 70% of second implants reported that they would undergo the procedure again if the PPI failed (P > 0.05; ns). With regards to cosmetic aspects, 13% of the first implants' and 15% of second implants' partners reported either penile shortness or soft glans as the main causes of their dissatisfaction. Only 2.4% of first implants and 1% of reimplanted patients expressed difficulty in manipulating the device. CONCLUSIONS: PPI is successful in returning the ability for satisfactory sexual intercourse to both first implant and reimplanted patients and their respective partners.

[Urethral stricture in women]. / Estenosis uretral en la mujer.

UNLABELLED: To perform a bibliographic review on female urethra stenosis, following the criteria for evidence based medicine. METHODS: We performed a PubMed Search with the following keywords; "female urethral stricture ","women urethral stricture","female urethral reconstruction "and " female urethral stricture treatment ",without time limits, both in English and Spanish languages. RESULTS: Female urethra stenosis is a rare pathology, in which the working diagnosis is essential, as much as detailed physical examination, urodynamic study and radiological tests. We found in the literature a total of 73 cases treated with dilation with or without maintenance self catheterization, 120 cases treated with meatotomy, 65 cases treated by flap urethroplasty (46 with vaginal flap, 17 with vestibular flap and 12 with labia minora graft and 28 with oral mucosa grafts). There are not comparative studies between the various techniques, making it difficult to set up a therapeutic algorithm. CONCLUSIONS: The surgical treatment with flaps/grafts has the highest success rate; whereas less invasive procedures such as urethrotomy/meatotomy/dilations/self-catheterization should be reserved for short female urethra stenosis or women with high comorbidity.

[Anatomy and vascularization on the male urethra and penis]. / Anatomia y vascularizacion de la uretra y el pene.

In this review we present an update on the anatomy and vascularization of the male urethra. The real objective of this review is to make the following chapters more understandable, both to know the physio-pathological mechanisms of urethral pathology and also to help us in their surgical management.

[Recto-urethral fistula secondary to prostate cancer]. / Fístulas recto-uretrales secundarias a tratamiento de cáncer de próstata.

OBJECTIVES: There are various treatments forprostate cancer nowadays, including techniques that have been used for manyyears such as surgery and radiotherapy, and newer procedures that are gaining prominence in the Urological field like cryotherapy or HIFU (high intensity focused ultrasound). Rectourethral fistula is a rare complication that demands the urologist a great capacity; it may happen after either existent treatment. METHODS: PubMed literature review with articles published during the last 10 years using the terms "rectourethral fistula" and "prostate cancer". EVIDENCE SINTHESIS: We present the current situation of rectourethral fistula secondary to prostate cancer in terms of epidemiology, diagnosis and treatment, with special focus on the various types of fistulae and their management. We comment on general features in relation to surgical management of this pathology; type of approach, type of repair, use of flaps, concomitant fistula and urethralstenosis, delay of surgery and bowel diversion. We describe the surgical techniques more frequently used today and their limitations. We present the results published by different groups with each of these techniques, as well as the corresponding recommendations based on each group's experience. CONCLUSIONS: Rectourethral fistula is a surgical challenge for the urologist. We must choose the appropriate management in accordance to the characteristics of the fistula.

Post-radical prostatectomy predictive factors for biochemical recurrence.

OBJECTIVES: To identify post-prostatectomy prognostic factors for biochemical recurrence (BR). METHODS: We retrospectively analyze a series of patients with clinically localized prostate cancer who were treated with radical prostatectomy (RP)as monotherapy between 1996 and 2007, pN0-pNx, with a minimum of 12 months of follow-up. BR is considered to be persistence or elevation in PSA after RP greater than 0.4 ng/ml on the subsequent determination. Analyzed variables were Gleason Score, pathological stage, surgical margin involvement, capsular involvement, and perineural involvement. We performed univariate and multivariate analysis using the chi squared test and proportional Cox risk model in order to determine the variables associated with BR. RESULTS: We included 693 patients. Mean age was 63.5 years with a mean follow-up of 88.5 months. Mean PSA was 9.2 ng-ml. BR was observed in 218 patients, 43 due to biochemical persistence. More common pathological findings were Gleason score 7 (47.1%), and pathological stage pT2c (60.1%). Mean time to BR was 35.5 months with 91.2% occurring in the first 8 years. On multivariate analysis, Gleason score ≥ 7(4+3), pathological stage pT3b and positive surgical margin were independent predictors of BR. CONCLUSIONS: Gleason Score ≥ 7(4+3), positive surgical margins and pathological stage pT3 are independent prognostic factors associated with BR-free survival.

[Preoperative predictive model for biochemical recurrence in patients with localized prostate cancer treated with radical prostatectomy]. / Modelo predictivo preoperatorio para la recidiva bioquimica en pacientes con cáncer de próstata localizado tratados con prostatectomia radical en monoterapia.

OBJECTIVES: To identify pre-prostatectomy clinical prognostic factors for biochemical recurrence (BR) and to create a predictive model for BR based or predictive clinical variables prior to radical prostatectomy (RP). METHODS: a retrospective case-records study of patients with clinically localized prostate cancer treated with RPas monotherapy pN0-pNx and monitored at least for 12 months between 1996 and 2007. We considered BR the PSA persistence or elevation after RP greater than 0.4 ng/ml. The clinical variables analyzed were PSA, clinical stage and Gleason score from the biopsy (GS). Univariate and multivariate analysis were carried out using the chi squared test and logistic regression to determine the variables associated with BR. In order to estimate BR based on the variables identified we developed a mathematical model and designed an Excel spreadsheet to apply it. Calibration and discrimination were performed using the Hosmer-Lemeshow test and an ROC curve determining the area under the curve. RESULTS: We included 627 patients. The mean age was 64 years with a mean follow- up of 87 months. The mean PSA was 8 ng/ml. 68.6% of patients had a PSA ≤ 10 ng/ml, 53,1% had a GS ≤ 6 and 61,7% had a clinical stage of cT1a-c. BR was observed in 204 (32,5%) patients, 39 due to biochemical persistence. The mean time to BR was 28 months with 89,7% of instances occurring in the first 8 years. On the multivariate analysis, PSA and GS were independent predictors of BR ( p=0.001), while the cT2c stage had a tendency towards statistical significance ( p=0.06). The three variables were included in the equation for the model with different specific weight. Specificity was 93.6%, sensitivity was 36.8% and an overall precision of 75.1%. The model had a predictive capacity of 73% and a p-value < 0.001. CONCLUSIONS: PSA and GS are independent prognostic clinical variables associated with BR-free survival. The predictive model developed allows the risk of BR to be estimated with 73% reliability.

Usefulness of the Memorial Sloan Kettering Cancer Center nomogram in the prognosis of patients treated with radical cystectomy for invasive bladder cancer.

OBJECTIVES: To evaluate the usefulness of the Memorial Sloan Kettering Cancer Center (MSKCC) nomogram for prediction of recurrence probability in our series of patients who have undergone radical cystectomy for bladder cancer. METHODS: 397 patients underwent radical cystectomy for bladder cancer between 1986 and 2005. 165 patients were excluded:21 due to exitus in the immediate postoperative period, 32 due to previous radiation therapy, 6 due to neoadjuvant chemotherapy, 5 due to inability to complete follow-up, 15 that did not undergo lymphadenectomy and 86 who were alive at the time of review with less than 5 years of follow-up. Patients were classified into recurrence risk groups: organ-confined tumors (pT0-2 pN0 ), extra-bladder involvement (pT3-4 pN0) and lymph node involvement (pN+). Survival analysis was performed using the Kaplan-Meier method. Five-year recurrence-free survival by risk groups in our series was compared with the one estimated using the MSKCC nomogram using a ROC curve. RESULTS: We analyzed 232 patients. Follow-up in patients who died of cancer was 25 ± 25 months. For alive patients and those who died of other causes, follow-up was 120 ± 39 months. Pathology studies revealed 42.7% organ-confined tumors , 33.2% with extra-bladder involvement and 24.1% with lymph node involvement. The five-year recurrence free survival analysis according to the Kaplan-Meier method stratified by risk groups was: pT0-2 76%, pT3-4 51%, pN+ 31%. The probability of recurrence free survival according to the MSKCC nomogram in the same risk groups was: 85% ± 5%, 62% ± 10% and 25% ± 13%, respectively. The area under the ROC curve was 0.795 (95% CI 0.739-0.852) CONCLUSION: In our series, the MSKCC nomogram constitutes a useful tool for predicting 5-year cancer free survival in patients who undergo radical cystectomy.

Prognostic factors in patients with stage pT0/pT1/pTa in the radical cystectomy specimen.

OBJECTIVES: To identify risk factors for progression in patients with invasive bladder carcinoma who were pT0/pT1/pTa after cystectomy. METHODS: We analyzed the clinical records of 97 post-cystectomy pT0/pT1/pTa patients for the following variables: hydronephrosis, carcinoma in situ (CIS), lymphovascular invasion, history of non-muscular invasive disease, residual tumor in the specimen and lymphatic invasion (pN). pN+patients were excluded from definitive analysis. The quantitative and qualitative variables were analyzed using standard statistics. The chi-square test was used to analyze associations between categorical variables. Univariate Cox proportional hazard regression analysis (enter method) was performed. The Kaplan-Meier method was used to evaluate survival and the log-rank test to assess differences between groups. Statistical significance was set at p<0.05. The analysis was performed using SPSS version 15.0. RESULTS: The study sample included 97 cases. The specimen was staged at T2 in 97% of patients after transurethral resection (TUR); After cystectomy, the specimen was staged as pT0 (R0) in 44.3% and pT1/Ta (R1) in 55.7%. Median follow-up was 47 months. Lymph node metastasis were detected in 5.2% of patients (pN+rpar; and had a negative impact on survival (p=0.02). Overall survival was 59.8% and cancer-specific survival 76.6%. Univariate analysis showed a relationship between tumor progression and the presence of CIS (p < 0.001), lymphovascular invasion (p=0.049), and hydronephrosis(p < 0.001). In the multivariate analysis, only the presence of CIS in the transurethral resection was associated with reduced cancer-specific survival (HR 100.5; 95% CI, 10.8 to 933.1; pp<0.001). CONCLUSIONS: Although the prognosis of stage pT0/pT1/pTa carcinoma in the cystectomy specimen is excellent, some patients experience progression. The presence of CIS in the transurethral resection was an independent predictor of recurrence in these cases.

A new surgical technique for sutureless partial nephrectomy: renal sutureless device.

BACKGROUND: Several factors impact the preservation of renal function after partial nephrectomy. Warm ischemia time is the main modifiable surgical factor. Renorrhaphy represents the key of hemostasia, but it is associated with increase of warm ischemia time and complications. The aim of this study was to describe our initial surgical experience with a new surgical technique for sutureless partial nephrectomy, based on the application of our own developed renal-sutureless-device-RSD. METHODS: Between 2020-2021, 10 patients diagnosed with renal cell carcinoma stage cT1a-b cN0M0 with an exophytic component were operated using renal-sutureless-device-RSD. Surgical technique of sutureless partial nephrectomy with renal-sutureless-device-RSD is described in a step-by-step fashion. Clinical data was collected in a dedicated database. Presurgical, intraoperative, postoperative variables, pathology and functional results were evaluated. Medians and ranges of values for selected variables were reported as descriptive statistics. RESULTS: Partial nephrectomy was carried out with the use of renal-sutureless-device-RSD without renorrhaphy in all cases (70%cT1a-30%cT1b). Median tumor size was 3.15 cm (IQR: 2.5-4.5). R.E.N.A.L Score had a range between 4a-10. Median surgical time was 97.5 minutes (IQR 75-105). Renal artery clamping was only required in 4 cases, with a median warm ischemia time of 12.5 minutes (IQR 10-15). No blood transfusion, intraoperative and postoperative complications were noted. Free-of-disease margin rate achieved was 90%. Median length of stay was 2 days (IQR 2-2). Laboratory data on hemoglobin and hematocrit levels, as well as renal function tests, remained stable after partial nephrectomy. CONCLUSIONS: Our initial experience suggests that a sutureless PN using the RSD device is feasible and safe. Further investigation is needed to determine the clinical benefit of this technique.

Urachal adenocarcinoma. Case report and bibliographic review.

OBJECTIVE: Literature review of adenocarcinoma of the urachus in connection with two cases recently diagnosed and treated in our center. METHODS/RESULTS: We report 2 cases of urachus Adenocarcinoma treated in our institution, both underwent extended partial cystectomy including excision of the urachus up to the umbilicus. CONCLUSION: Urachal adenocarcinoma is an exceptional tumor, of poor prognosis, the treatment of which is surgical (partial cystectomy), and the main predictors of disease-free survival are the degree of tumor differentiation and the free margins of the surgical specimen.

I can't believe they are dead. Death and mourning in the absence of goodbyes during the COVID-19 pandemic.

The circumstances surrounding the deaths during the COVID-19 pandemic and the subsequent mourning process transpired in completely atypical conditions. This study analyses the experience of losing a loved one without traditional, culture-specific rituals for saying goodbye, explores the different factors affecting the onset of mourning by family members and studies the existence of complicating risk factors associated with grief from this distinct type of loss. A qualitative, phenomenological and interpretive research study was undertaken through in-depth interviews of 48 informants, key and general, in the autonomous Community of Madrid. The interviews were conducted between July and November of 2020 and were followed by an interpretive categorical qualitative analysis. The principal results include (a) the finding that deaths caused by the pandemic are, due to their characteristics, a complicating factor for bereavement, (b) evidence that the professionals who supported these deaths with a holistic approach, facilitating the process for the family members, have been a determining factor in enabling the beginning of the mourning process and reducing anguish for the family members and (c) the conclusion that a need exists for a resignification of the funeral rite. Finally, before future crises, it is recommended that access protocols be developed for relatives, including methods that permit them to say goodbye to their loved ones, no matter the situation.

"The worst thing that has happened to me": Healthcare and social services professionals confronting death during the COVID-19 crisis.

Objectives: This study analyzes the subjective emotional impact COVID-19 deaths have had on healthcare, social services, and funeral services professionals, it explores the different implications, and analyzes the different reactions of health and social care professionals and funeral professionals to the volume of deaths. Methods: This work is based on a qualitative, phenomenological, and interpretative approach through in-depth interviews with 42 informants, including 36 social and healthcare professionals, as well as 6 family members of those who died from COVID-19 in Madrid. The interviews were processed through a qualitative, interpretative, categorical analysis. Results: Healthcare professionals were overexposed to a significant number of deaths under dramatic circumstances. Many of these professionals had difficulties processing their experiences and expressed the need for psychological help. The fact that certain professionals had previous exposure to high mortality rates was not a protective factor. Some coping differences were seen between healthcare professionals and professionals dedicated to the care of the deceased (undertakers or firemen), particularly in the degree to which they personalized the care they provided. Conclusion: The overexposure to death with the circumstances that existed during the state of emergency had a significant emotional impact on the professionals, which can lead to mental health problems in the near term.

[Biomarkers in testicular cancer.] / Biomarcadores en cáncer de testículo.

OBJECTIVE: To review the current situationof biomarkers used in the diagnosis, prognosis,treatment response and relapse of testicular cancer. METHODS: A non systematic review was performedof clinical guidelines and articles published within thelast years regarding biomarkers in testicular cancer. RESULTS: The most commonly used biomarkersare alphafetoprotein (AFP) and beta human corionicgonadotropin (ß-HCG).The enzyme lactate dehydrogenase (LDH) is presentin multiple tissues and is elevated in advancedgerminal tumors. A few micro molecules of RNA (micro-RNA) have demonstrated to be specifically elevatedin testicular germinal tumors. However, its clincalbenefit, as well as its standardization is currently underinvestigation. CONCLUSIONS: Classic biomarkers AFP, ß-HCG,and LDH are of some utility confirming the diagnosisif they are elevated. However, its limited sensibility isnot enough to rely the diagnosis on themselves. Thereare promising results with Micro-RNA but its daily usedoes not seem imminent.

OBJETIVO: .-Revisar la situación actualde los biomarcadores utilizados en el diagnóstico, pronóstico,monitorización de la respuesta al tratamiento,y detección de la recidiva del cáncer de testículo.MÉTODOS:.- Realizamos una revisión no sistemáticatanto de guías de práctica clínica como de artículospublicados en los últimos años sobre los biomarcadoresen cáncer de testículo, en conjunto, y cadauno en particular. RESULTADOS: .- Los dos marcadores más extendidosy utilizados son la alfafetoproteína (AFP), y la Betagonadotropina coriónica humana (ß-HCG).La lactato deshidrogenasa (LDH) es una enzimapresente en diversos tejidos y que se encuentra elevadaen algunos tumores germinales, especialmenteen estados más avanzados. Algunas moléculas pequeñasde ácido ribonucleico circulante en sangre (Micro-RNA) han demostrado estar elevadas de maneramás constante y específica en los tumores germinalestesticulares. Sin embargo su utilidad práctica aún estáen evaluación, así como su sistematización para facilitarla extensión de su uso. CONCLUSIONES: .- Los marcadores clásicos AFP,ß-HCG, y LDH son de cierta utilidad confirmatoria encaso de estar elevados. Pero su limitada sensibilidadno permite fundamentar en ellos el diagnóstico. Losresultados obtenidos con los Micro-RNA son muchomás prometedores, sin embargo su incorporación a lapráctica diaria no parece inminente.

Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.

IMPORTANCE: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is an autosomal recessive disorder caused by pathogenic variants in PLEC1, which encodes plectin. It is characterized by mild mucocutaneous fragility and blistering and muscle weakness. Translational readthrough-inducing drugs, such as repurposed aminoglycoside antibiotics, may represent a valuable therapeutic alternative for untreatable rare diseases caused by nonsense variants. OBJECTIVE: To evaluate whether systemic gentamicin, at a dose of 7.5 mg/kg/d for 14 consecutive days, is clinically beneficial in a patient with EBS-MD. DESIGN, SETTING, AND PARTICIPANTS: A single patient in Madrid, Spain, received 2 treatment courses with gentamicin on July 2019 and February 2020 with a follow-up period of 120 and 150 days, respectively. RESULTS: In this case report of a woman in her 30s with EBS-MD, before gentamicin treatment, the patient had mucocutaneous involvement, skeletal and respiratory muscle weakness, and myalgia that negatively affected her quality of life. Outcomes were evaluated with extensive laboratory tests and clinical scales. No nephrotoxic or ototoxic effects were detected after intravenous gentamicin administration. Gentamicin treatment was followed by plectin expression in the skin for at least 5 months. Although minimal changes were noted in skeletal muscle function (as measured by the Hammersmith functional motor scale and its expanded version: 6/40 to 7/40 and from 10/66 to 11/66, respectively) and respiratory musculature (maximal inspiratory and expiratory pressures D0 vs D16, MIP: 2.86 vs 3.63 KPa and MEP: 2.93 vs 4.63 KPa), myalgia disappeared (VAS dropped from 6 to 0), and quality of life improved (EuroQoL-5D-3L pain and anxiety dropped from 2 to 1). CONCLUSIONS AND RELEVANCE: The findings of this single case report suggest that gentamicin treatment may help suppress PLEC1 premature termination codons and induce plectin expression in EBS-MD primary keratinocytes and skin. Our study suggests that gentamicin may play an important role in treating EBS-MD owing to nonsense variants.