RESUMO
INTRODUCTION: 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.
RESUMO
Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.
Assuntos
Proteínas de Ciclo Celular/genética , Disceratose Congênita/genética , Mutação de Sentido Incorreto , Proteínas Nucleares/genética , Acitretina/uso terapêutico , Adolescente , Criança , Disceratose Congênita/tratamento farmacológico , Feminino , Humanos , Ceratolíticos/uso terapêutico , Masculino , IrmãosRESUMO
OBJECTIVE: To report a rare case of inverse Kipplel-Trenaunay. CASE DESCRIPTION: A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue. COMMENTS: Inverse Klippel-Trenaunay is a Klippel-Trenaunay syndrome variation in which there are capillary and venous malformations associated to hypotrophy or shortening of the affected limb. Modifications on the limb's length or width result from alterations in bones, muscles, or subcutaneous tissues. It has few described cases. Further clinical and molecular studies must be performed for a proper understanding.
Assuntos
Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Anormalidades da Pele/patologia , Tela Subcutânea/patologia , Malformações Vasculares/diagnóstico por imagem , Adolescente , Feminino , Humanos , Angiografia por Ressonância Magnética/métodos , Tela Subcutânea/irrigação sanguínea , Malformações Vasculares/patologiaRESUMO
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS. We present a 13-year-old girl with bilateral renal cysts detected at the age of 9 months. At the age of 13, she was referred to the Dermatology Outpatients Clinic due to a facial cutaneous eruption. She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.
Assuntos
Rim Policístico Autossômico Dominante/diagnóstico , Esclerose Tuberosa/diagnóstico , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Rim Policístico Autossômico Dominante/diagnóstico por imagem , Rim Policístico Autossômico Dominante/genética , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/genéticaAssuntos
Anticorpos Monoclonais/administração & dosagem , Dermatite Atópica/tratamento farmacológico , Fatores Imunológicos/administração & dosagem , Complicações na Gravidez/tratamento farmacológico , Adulto , Anticorpos Monoclonais Murinos , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Rituximab , GêmeosRESUMO
ABSTRACT Objective: To report a rare case of inverse Kipplel-Trenaunay. Case description: A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue. Comments: Inverse Klippel-Trenaunay is a Klippel-Trenaunay syndrome variation in which there are capillary and venous malformations associated to hypotrophy or shortening of the affected limb. Modifications on the limb's length or width result from alterations in bones, muscles, or subcutaneous tissues. It has few described cases. Further clinical and molecular studies must be performed for a proper understanding.
RESUMO Objetivo: Relatar um caso raro de Klippel-Trenaunay inverso. Descrição do caso: Menina de 16 anos com placa deprimida acinzentada na coxa esquerda, evidenciando-se, por meio de angioressonância, uma malformação vascular, acometendo a pele e tecidos subcutâneos. Comentários: Klippel-Trenaunay inverso é uma variante da síndrome de Klippel-Trenaunay em que há malformação capilar e venosa associada à hipotrofia ou encurtamento do membro afetado. Pode envolver acometimento ósseo, muscular ou subcutâneo, modificando o comprimento ou a circunferência do membro. Há poucos casos descritos, e mais estudos clínicos e moleculares precisam ser realizados para seu correto entendimento.
Assuntos
Humanos , Feminino , Adolescente , Anormalidades da Pele/patologia , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Tela Subcutânea/patologia , Malformações Vasculares/diagnóstico por imagem , Angiografia por Ressonância Magnética/métodos , Tela Subcutânea/irrigação sanguínea , Malformações Vasculares/patologiaRESUMO
A 27 year-old-man, with no known personal or familial history of disease, mentioned a 10-year history of asymptomatic groups of telangiectasias, with a Blaschko lines distribution on the right lateral aspect of the neck and asymptomatic. He denied any episodes of disease or drug intake that could be associated with the disease. Blood work had no changes, namely of liver enzymes or infectious serologies. The clinical diagnosis of Idiopathic Acquired Unilateral Nevoid Telangiectasia was made, an uncommon, benign vascular malformation. The patient declined doing a cutaneous biopsy or treatment with a cosmetic intent.
Assuntos
Doenças Assintomáticas , Dermatopatias Vasculares/patologia , Telangiectasia/patologia , Adulto , Diagnóstico Diferencial , Humanos , MasculinoAssuntos
Adjuvantes Imunológicos/efeitos adversos , Ácido Hialurônico/efeitos adversos , Livedo Reticular/induzido quimicamente , Livedo Reticular/diagnóstico , Adjuvantes Imunológicos/administração & dosagem , Idoso , Humanos , Ácido Hialurônico/administração & dosagem , Injeções Intra-Articulares/efeitos adversos , Masculino , Pessoa de Meia-IdadeRESUMO
Immunotherapy with Bacillus Calmette-Guérin is widely used for treatment and prophylaxis of superficial urothelial cancer. Complications associated with Bacillus Calmette-Guérin treatment are common. The authors describe a case of granulomatous inflammation of the penis associated with intravesical Bacillus Calmette-Guérin therapy, presenting with multiple erythematous and painless nodules located on the glans. A review of the literature is also performed. Granulomatous balanoposthitis is a rare complication of Bacillus Calmette-Guérin immunotherapy, with heterogeneous clinical presentation, which can make the diagnosis difficult. Its clinical recognition is essential for early start of therapy with antitubercular agents and interruption of Bacillus Calmette-Guérin.
Assuntos
Adjuvantes Imunológicos/efeitos adversos , Vacina BCG/efeitos adversos , Balanite (Inflamação)/induzido quimicamente , Granuloma/induzido quimicamente , Adjuvantes Imunológicos/administração & dosagem , Administração Intravesical , Idoso , Antituberculosos/uso terapêutico , Vacina BCG/administração & dosagem , Balanite (Inflamação)/tratamento farmacológico , Balanite (Inflamação)/patologia , Granuloma/tratamento farmacológico , Granuloma/patologia , Humanos , Masculino , Neoplasias da Bexiga Urinária/tratamento farmacológicoRESUMO
Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the first day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior limbs. Family history showed that her 22-year-old mother had hypopigmented lesions on the lower limbs and her 13-month-old sister had hyperpigmented lesions on the trunk and limbs. In newborns, herpes infection emerges as the principal diagnosis of vesicular rash, due to the importance of precocious diagnosis and treatment. Other hypothesis must be considered in a newborn with vesicobullous rash, such as IP.
Assuntos
Incontinência Pigmentar/diagnóstico , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Incontinência Pigmentar/genética , Recém-Nascido , LinhagemRESUMO
Behçet's disease (BD) is chronic, relapsing and multisystem inflammatory disorder, whose diagnosis is essentially clinical. In recent studies, the antagonists of tumor necrosis factor alpha have shown good results in the treatment of mucocutaneous manifestations of BD. The authors describe three cases of BD with serious mucocutaneous involvement treated with infliximab. CLINICAL CASE 1: A 16-year-old female patient with an 8-year history of severe bipolar aphtosis. A rapid clinical response to biological therapy was verified, with partial and total remission of ulcers at 2nd and 6th week of treatment, respectively. CLINICAL CASE 2: A 56-year-old female patient with chronic nodular panniculitis of lower limbs, arthralgias and orogenital ulceration. After 6 weeks of treatment with infliximab, a complete clinical remission was observed. CLINICAL CASE 3: A 50-year-old female with a 15-year history of relapsing oropharyngeal ulceration. A good clinical response to biologic therapy was observed. At 22nd week it was interrupted because frequent dental abscesses. In our experience, infliximab is an effective therapeutic alternative that should be considered in the presence of mucocutaneous manifestations resistant to conventional therapies.
Assuntos
Anticorpos Monoclonais/uso terapêutico , Síndrome de Behçet/complicações , Doenças dos Genitais Femininos/tratamento farmacológico , Úlceras Orais/tratamento farmacológico , Úlcera Cutânea/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Úlcera/tratamento farmacológico , Adolescente , Feminino , Doenças dos Genitais Femininos/etiologia , Humanos , Infliximab , Pessoa de Meia-Idade , Mucosa , Úlceras Orais/etiologia , Úlcera Cutânea/etiologia , Úlcera/etiologiaRESUMO
A 27 year-old-man, with no known personal or familial history of disease, mentioned a 10-year history of asymptomatic groups of telangiectasias, with a Blaschko lines distribution on the right lateral aspect of the neck and asymptomatic. He denied any episodes of disease or drug intake that could be associated with the disease. Blood work had no changes, namely of liver enzymes or infectious serologies. The clinical diagnosis of Idiopathic Acquired Unilateral Nevoid Telangiectasia was made, an uncommon, benign vascular malformation. The patient declined doing a cutaneous biopsy or treatment with a cosmetic intent.
Um homem de 27 anos, sem quaisquer antecedentes patológicos pessoais ou familiares conhecidos, mencionava dermatose com cerca de 10 anos de evolução, caracterizada por agrupamentos de telangiectasias, de distribuição blaschkóide, na face lateral direita do pescoço e assintomáticas. Negava quaisquer episódios de doença ou toma de fármacos que pudessem estar relacionados com esta doença. As análises sanguíneas do doente estavam inalteradas, nomeadamente os enzimas hepáticos e serologias infecciosas. Foi efectuado o diagnóstico clínico de Telangiectasia Nevóide Unilateral Adquirida, idiopática, uma malformação vascular benigna pouco comum. O doente prescindiu da realização de biópsia cutânea ou tratamento de intenção cosmética.
Assuntos
Humanos , Masculino , Adulto , Telangiectasia/patologia , Dermatopatias Vasculares/patologia , Doenças Assintomáticas , Diagnóstico DiferencialRESUMO
A imunoterapia com o Bacilo Calmette-Guérin é amplamente usada no tratamento e profilaxia da neoplasia urotelial superficial. As complicações associadas ao tratamento são comuns. Os autores relatam um caso de inflamação granulomatosa do pênis, associada à terapia intravesical com Bacilo Calmette-Guérin, com múltiplos nódulos eritematosos indolores localizados na glande. É também efetuada uma revisão da literatura. A balanopostite granulomatosa é uma complicação rara associada à imunoterapia com Bacilo Calmette-Guérin, com uma apresentação clinicamente heterogênea que pode dificultar o diagnóstico. O seu reconhecimento clínico é essencial para o início precoce de tuberculostáticos e interrupção de Bacilo Calmette-Guérin.
Immunotherapy with Bacillus Calmette-Guérin is widely used for treatment and prophylaxis of superficial urothelial cancer. Complications associated with Bacillus Calmette-Guérin treatment are common. The authors describe a case of granulomatous inflammation of the penis associated with intravesical Bacillus Calmette-Guérin therapy, presenting with multiple erythematous and painless nodules located on the glans. A review of the literature is also performed. Granulomatous balanoposthitis is a rare complication of Bacillus Calmette-Guérin immunotherapy, with heterogeneous clinical presentation, which can make the diagnosis difficult. Its clinical recognition is essential for early start of therapy with antitubercular agents and interruption of Bacillus Calmette-Guérin.