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- Spectrum of Cutaneous Lesions in a Cohort of Patients With Neurofibromatosis Type 2.Publication . Fialho, Maria C; Garrido, Pedro M; Santos-Coelho, Miguel; Ferreirinha, Ana; Martins, Bárbara D; Passos, João; Moura, CecíliaBackground: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome with a predisposition to the development of central nervous system tumors, ophthalmic manifestations, and dermatological lesions. The latter are present in 70-95% of patients and can precede the evolution of other tumors. However, they are not included in the diagnostic criteria and are frequently undervalued during follow-up. Methods: An observational cross-sectional study characterizing cutaneous lesions in a cohort of NF2 patients was carried out. Dermatological examinations were performed, and lesions were classified into neural cutaneous tumors (superficial, SNCT, and deep, DNCT), hyperpigmented patches (HyperP), and hypopigmented patches (HypoP). The Dermatology Life Quality Index (DLQI) and EQ-5D questionnaires were applied to evaluate the impact on quality of life. Results: Nineteen patients with a mean age of 36 years were included. Sixteen (84%) patients had cutaneous lesions, mostly developed 10 or more years before the diagnosis. SNCT, DNCT, and HyperP showed similar frequencies (58%). HypoP were observed in only one patient. HyperP developed, on average, earlier than NCT (9.6 vs. 16.5 SNCT, 17.0 DNCT; years). The excised lesions had different histological patterns, including neurofibromas, schwannomas, and a hybrid tumor. Most patients reported a low impact of cutaneous manifestations on the quality of life (DLQI 0 or 1). Conclusions: Cutaneous lesions are frequent in NF2 and may precede the diagnosis by several years. Their identification is important to establish the diagnosis earlier and potentially reduce morbidity and mortality.
- Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.Publication . Rebelo, Mafalda; Francisco, Telma; Perry da Câmara, Rosário; Pereira, Andreia; Iraneta, Amets; Amorim, Marta; Paiva Lopes, Maria João; Lopes da Silva, Rita; Cordeiro, Ana IsabelIntroduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.
- The Efficacy of Dupilumab Largely Exceeds the 6-Month Treat-to-target Goals: An Analysis in an Atopic Dermatitis Referral CenterPublication . Valente C; Figueira Vilela B; Paiva-Lopes MJ; Duarte B
- Dupilumab in Patients with Atopic Dermatitis: A Multicentric, Long-Term, Real-World Portuguese Study.Publication . Torres, Tiago; Cruz, Maria João; Gonçalo, Margarida; Filipe, Paulo; Duarte, Bruno; Alves, João; Alvarenga, José Miguel; Rosa, Gilberto; Flor, Duarte; Ramos, José; Sousa, Diogo; Rosca, Aureliu; Magalhães, César; Claro, Cristina; Rocha, Joana; Vilarinho, Catarina; Mota, Fernando; Mota, Alberto; Lopes, Maria João PaivaIntroduction: Several clinical trials have established the efficacy and safety of dupilumab for treating atopic dermatitis (AD). However, literature remains scarce in reporting the long-term effectiveness, safety, and drug survival of dupilumab in real-world settings. This study aimed to describe the latter outcomes of dupilumab in patients with AD. Methods: This Portuguese, multicentric, observational, retrospective study included consecutive adult patients with AD who initiated dupilumab between January 2019 and September 2023, with a follow-up period up to 30 months. Drug discontinuation and adverse effects data were used to estimate drug survival. Clinical assessments included the Eczema Area and Severity Index (EASI), pruritus numerical rating scale (NRS), and Dermatology Life Quality Index (DLQI). Results: A total of 312 patients were included in the study, with 56.4% being male (median age of 30 years, range 18-83). The 30-month drug survival rate was 82.0%. During the study period, 12.5% of the sample (n = 39 patients) discontinued treatment: 7.3% due to treatment failure, 2.9% due to safety concerns, 1.3% due to complete disease control, 0.6% due to pregnancy, and 0.3% due to lack of compliance. Adverse events not leading to drug discontinuation were noted in 25.6% of the sample (n = 80). Conjunctivitis was the most frequently reported adverse event (17%), followed by facial erythema (9%). At 30 months, the mean EASI decreased significantly from 27.30 ± 11.89 at baseline to 2.92 ± 3.96 (p < 0.001), reflecting an overall improvement of 89.3%. Similarly, pruritus NRS decreased from 7.36 ± 1.90 at baseline to 1.74 ± 2.16 at month 30 (p < 0.001), improving by 76.4%, and mean DLQI changed from 18.0 ± 7.09 at baseline to 2.67 ± 3.95 at month 30 (p < 0.001), decreasing by 85.2%. Conclusions: This study increases our current understanding of dupilumab in real-world settings, demonstrating its long-term effectiveness and safety in treating AD.
- Passive Smoking and Hidradenitis Suppurativa: a Retrospective Analysis.Publication . Aparício Martins, Inês; Valente, Clara; Simões Farinha, Pedro; Figueira Vilela, Beatriz; Cabete, Joana; Wiley
- Esomeprazole-Induced Lichen PlanusPublication . Santos-Coelho, M; Barbosa, J; João, A; Araújo-Carvalho, RIntroduction: Lichenoid drug eruption (LDE) is an uncommon cutaneous drug reaction (CDR) that has classically been associated with anti-hypertensive drugs, gold, and penicillamine. Case presentation: We present the case of a 63-year-old woman who developed a pruriginous disseminated dermatosis composed of violaceous polygonal flat-topped papules affecting the flexural aspects of the upper and lower limbs, abdominal flanks, and the lumbar and sacral regions. The lesions started 2 weeks after initiating esomeprazole intake. A histopathological exam of one of the lesions was compatible with LDE. The patient discontinued esomeprazole and was treated with medium potency topical corticosteroids and emollient with full resolution of symptoms. Conclusion: Even though CDRs associated with proton-pump inhibitors (PPI) are relatively common, there are only three reported cases of LDE. We report this case to highlight the importance of considering PPIs as the culprit drug in similar clinical situations.
- Radiation-Induced Morphea: An Uncommon EntityPublication . Santos-Coelho, M; Barbosa, JA; Araújo-Carvalho, R
- Atopic Dermatitis: Improving Patient Access to Health Care in DermatologyPublication . Torres, T; Gonçalo, M; Paiva-Lopes, MJ; Claro, C; Varela, P; Silva, JM; Cordeiro, A; Mendes-Bastos, PIntroduction and Objective: The present study on atopic dermatitis (AD) in Portugal aims to characterize patient needs and discuss measures to improve health care in dermatology, particularly in cases of moderate to severe disease. Methods: The study was conducted in three phases–(1) data collection on the patient access to healthcare and subsequent analysis; (2) critical evaluation of the data in individual interviews with dermatologists and one pediatrician; and lastly, (3) data discussion in consensus meetings to validate the existing care capacity in dermatology, to identify gaps in care for patients with AD and to define mitigation strategies. Results: In Portugal, it is estimated that AD affects ~ 360,000 patients, 70,000 of whom have moderate to severe disease. Healthcare capacity analysis confirmed that the private system plays an important role in the management of AD. It is estimated that 30% of patients rely solely on the Portuguese public health service. Nevertheless, patients with moderate to severe disease can only access advanced targeted therapies from public healthcare providers. Analysis of public care capacity in dermatology shows relevant gaps in the referral system, the geographical coverage of specialized centers, the number of specialists and high waiting times for first appointments. Considering the negative impact of the disease on patients’ quality of life, 86% of patients with AD use private settings to better manage their disease. Conclusion: In conclusion, private setting bridges the gaps in public health care capacity in dermatology, and therefore, it is crucial for patients with AD. However, a major limitation is the lack of reimbursement for advanced targeted therapies recommended for moderate to severe AD when they are prescribed in a private setting, thus compromising patient access to these therapies. A possible strategy could be to extend the prescription of these therapies to a private setting based on a reimbursement model similar to that outlined in Act 48/2016 of 22 March.
- Recomendações para o Diagnóstico e Tratamento da Infeção Não Complicada por Chlamydia trachomatis (Não- Linfogranuloma Venéreo) em PortugalPublication . Andrade, P; Azevedo, J; Lisboa, C; Fernandes, C; Borrego, MJ; Borges-Costa, J; Reis, J; Santiago, F; Santos, A; Alves, JChlamydia trachomatis infection is the most prevalent sexually transmitted bacterial infection in the world. Being associated with a large number of asymptomatic carriers, the diagnosis is frequently challenging and requires appropriate laboratory testing. In Portugal, the incidence of the disease has been consistently increasing in recent years, meaning that special awareness is required for case identification, contact tracing and application of appropriate treatments. These recommendations result from the adaptation of the international consensuses on the diagnosis and treatment of Chlamydia trachomatis infection to the Portuguese healthcare setting, with the aim of standardizing the clinical and laboratory approach to symptomatic and nonsymptomatic carriers of the disease.
- Trichloroacetic Acid (80%) As a Chemical Debridement Method for Chronic Venous Leg Ulcers - a Pilot StudyPublication . Alpuim Costa, R; Porfírio Costa, B; Cabete, JDebridement is essential for the optimal care of venous leg ulcers. Several debridement methods with different limitations may be deployed. Trichloroacetic acid (TCA) is used for several dermatological purposes. Its application as a chemical debridement method for leg ulcers has never been explored. We designed a prospective study to determine the role of 80% TCA solution as a chemical debridement method for leg ulcers, regarding efficacy and procedure-associated pain. Chronic venous leg ulcers were treated with 3 cycles of 80% TCA solution or curettage over 1 week. Pain and the mean percentage of fibrin and devitalized tissue covering wound bed were evaluated. At the end of the study, a trend towards larger fibrin mean reduction among the TCA treated ulcers was observed, although this difference was not statistically significant (P = .35). The mean pain score after TCA application was significantly reduced compared to pain after curettage alone (P < 0.001). TCA presented several advantages over mechanical debridement: it is a more selective debridement method, has haemostatic properties, and a simpler and faster application. The 80% TCA solution may be a cheap, simple, and considerably less-painful chemical debridement method for venous leg ulcers compared to classical mechanical debridement.