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- Bridging Primary and Specialist Care in Atopic Dermatitis: Outcomes of an Interregional Referral Protocol in Portugal.Publication . Branco Vargas, Rita; Costa, Tomás; Leitão, Teresa; Farinha, Pedro; Peliteiro, Miguel; Duarte, Bruno; Santos, CátiaAtopic dermatitis (AD) is a chronic inflammatory skin disease with a significant impact on quality of life and healthcare systems. In Portugal, access to specialist care remains limited, particularly for patients requiring advanced therapies available only in hospital settings. This study aimed to implement and evaluate a structured referral protocol between primary and hospital dermatology services to improve AD management. Between April 2024 and February 2025, adult patients (≥18 years) coded with AD were identified at the USF Planície primary care center and assessed using a structured telephone questionnaire evaluating disease severity (Patient-Oriented Eczema Measure (POEM)), pruritus (Itch Numeric Rating Scale (INRS)), and sleep disturbance (Sleep Numeric Rating Scale (SNRS)). Of 213 identified patients, 119 (55.8%) were excluded - 94 (44.1%) could not be contacted; 19 (8.9%) denied the diagnosis; and 6 (2.8%) refused to participate - and 94 (44.1%) completed the assessment. Among these patients, 74 (78.7%) had mild or well-controlled disease, whereas 21 (22.3%) presented with moderate-to-severe AD. Patients with moderate-to-severe POEM showed a higher disease burden, with INRS ≥ 5 in 17 patients (85.0%), SNRS ≥ 5 in 5 patients (25.0%), and involvement of high-impact areas in 15 patients (75.0%), whereas in mild POEM, most patients had INRS < 5 (71, 95.9%), SNRS < 5 (74, 100%), and limited involvement of high-impact areas (16, 21.6%). This protocol demonstrated feasibility and clinical relevance, improving patient stratification and facilitating timely referral for specialist evaluation.
- Update on Generalized Pustular Psoriasis.Publication . Torres, Tiago; Antunes, Joana; Tavares Bello, Rui; Varela, Paulo; Henrique, Martinha; Marques Pinto, Gabriela; Figueiredo, Américo; Correia, Osvaldo; Filipe, Paulo; Menezes Brandão, FranciscoGeneralized pustular psoriasis (GPP) is a rare but severe inflammatory skin disease characterized by the eruption of widespread sterile pustules, often accompanied by systemic inflammation. Although GPP can coexist with plaque psoriasis, it is increasingly recognized as a distinct entity with unique clinicopathological, immunologic, and genetic features. The dysregulated IL-36 pathway, including mutations in the IL36RN gene, is implicated in GPP pathogenesis, providing a molecular basis for targeted therapies. Diagnosing GPP requires a comprehensive evaluation, including clinical presentation, potential triggers, patient history, histopathologic findings, and laboratory results. Disease severity must be assessed through both cutaneous symptoms and systemic involvement, as GPP flares can lead to life-threatening complications such as sepsis and multi-organ failure. Historically, GPP treatment primarily relied on therapies approved for plaque psoriasis, despite their limited specificity for this condition. Recent advances in understanding the molecular mechanisms of GPP, particularly the central role of interleukin-36 pathway, have led to the development of targeted therapies for this rare condition. Currently, spesolimab is the only therapy specifically approved for treating GPP flares in adolescents and adults, in both Europe and the United States of America. However, the management of GPP remains complex and challenging. This narrative review provides an overview of the epidemiology, pathophysiology, clinical features, comorbidities, and evolving therapeutic strategies for GPP.
- Cutaneous IgG4-Related Disease Treated with DupilumabPublication . Pestana, Mafalda; João, Alexandre; Palma-Carlos, Susana; Leiria-Pinto, Paula; João, Ana L.We present a 59-year-old male with a prolonged history of severe, treatment-resistant pruritic dermatosis and associated systemic symptoms, including fatigue and diarrhea. Dermatologic examination revealed widespread erythematous-brownish papules and nodules, prompting a skin biopsy that showed dense infiltration by immunoglobulin G4 (IgG4)-positive plasma cells, leading to a diagnosis of IgG4-related disease (IgG4-RD). The patient was treated with dupilumab, resulting in complete skin lesion resolution and significant improvement in quality of life. IgG4-RD, a rare inflammatory disease with potential multiorgan involvement, frequently challenges diagnosis due to diverse clinical presentations. This case highlights dupilumab effectiveness as a novel therapy for IgG4-RD with cutaneous involvement, offering a promising alternative for patients who do not respond well to corticosteroids.
- The Impact of the COVID-19 Pandemic on the Diagnosis of Cutaneous Melanoma: a Multicenter Study in PortugalPublication . Pestana, M.; Vilela, Beatriz F.; João, Alexandre; Carvalho, Rodrigo; Silva, António M.; Alves, João; Nogueira, Joana; Castro, Cristina G; Valejo-Coelho, Margarida M.; Catorze, Maria G.; Neves, JoséObjective: Malignant melanoma (MM) is among the most lethal skin cancers, with early diagnosis being essential for timely treatment and favorable prognosis. The coronavirus disease 19 (COVID-19) pandemic-related disruptions in global healthcare systems affected cancer screening and treatment. The aim of this study was to investigate the potential impact of the COVID-19 pandemic on the diagnosis and prognosis of MM. Methods: A retrospective analysis of all histopathology-confirmed MMs diagnosed between 2019 and 2022 was conducted in three dermatology departments in Lisbon. Histopathology reports and medical records of included patients were reviewed and data of interest analyzed. Data from the pandemic period (2020 and 2021) were compared to the pre and post-pandemic ones (2019 and 2022, respectively). Results: During the study period, a total of 644 MMs were diagnosed. When compared to the post-pandemic period, we observed a significant association between the pandemic group and a higher median Breslow thickness, ulcerated tumors, locoregional metastases, and more advanced stages (≥ T1B, final staging ≥ IIB) (p < 0.05). Conclusion: With the pandemic group being associated with unfavorable prognostic factors, we believe that restricted access to healthcare during the COVID-19 pandemic may have had a negative impact on the morbimortality of patients with MM.
- Following the Path: an Unusual Location for Cutaneous Larva MigransPublication . Santos-Coelho, Miguel; Barbosa, Joana A.; Baptista, Juliana
- Hutchinson’s Sign in Congenital Nail Matrix NevusPublication . Ferreirinha, Ana; Fialho, Maria C; Garrido, Pedro M.; Costa-Rosa, Joaninha; Moura, CecíliaCongenital nail matrix nevi (NMN) are a rare cause of melanonychia that may present with irregularity, asymmetry, and multicomponent pigmentation posing diagnostic challenges with subungual melanoma. We report a case of a 49-year-old female with longitudinal melanonychia and a 1-month recent pigmentation in the proximal nail fold. This sign is traditionally associated with malignancy, which further complicates the differentiation from acral melanoma. Therefore, a nail matrix biopsy was performed. Histopathologic examination revealed a nail matrix nevus. This procedure is crucial in suspicious cases, despite the risk of nail dystrophia. The evolution of these nevi into adulthood and their potential malignancy remains unclear, emphasizing the need for continued research and surveillance. This case highlights that congenital NMN often present with clinical and dermoscopic features of concern, mirroring those observed in subungual melanoma
- 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.