Impact of Treatment with Ustekinumab on Severe Infections in a Patient with Uncontrolled Psoriasis and Late-Onset Combined Primary Immunodeficiency: Case Report.

A 35-year-old man with a late-onset combined immunodeficiency (LOCID) variant of common variable immunodeficiency, severe plaque psoriasis, psoriatic arthritis, and Crohn's disease was attended in the Regional Hospital of Presidente Prudente and HC-FMUSP, São Paulo, Brazil. Anti-IL-12/IL-23 (ustekinumab) monoclonal antibody was prescribed due to the failure of other treatments (phototherapy, oral acitretin) for psoriasis and a Psoriasis Area Severity Index >10. We evaluated the impact of treatment with ustekinumab on severe infectious diseases in a patient with uncontrolled psoriasis and LOCID followed for 8 years. Four quarterly doses of ustekinumab 90 mg and human immunoglobulin replacement (10,000 mg at 28-day intervals) were administered. Immunophenotyping, cultures of lymphocytes, genetic sequencing, and whole exome sequencing were performed to investigate the primary immunodeficiency. Normal lymphocyte proliferation; pathogenic variants in genetic sequencing, and clinically significant variants in the whole exome for primary immunodeficiencies were not detected. The main infections before and after treatment with ustekinumab were chronic sinusitis and gastroenteritis. The patient was infected with COVID-19, dengue (twice) and influenza and was hospitalized three times for intravenous antibiotic therapy. Ustekinumab did not influence the susceptibility of the patient with LOCID to severe infections and significantly improved psoriasis, psoriatic arthritis, and Crohn's disease.

Infliximabe associado a ciclosporina e acitretina como terapia de resgate alternativa em paciente com psoríase grave refratária. Um relato de caso / Infliximab associated with cyclosporine and acitretin as alternative rescue therapy in a patient with severe psoriasis refractory. A case report

Contexto: O infliximabe é um anticorpo monoclonal quimérico que atua neutralizando a atividade biológica do fator de necrose tumoral alfa e impedindo a ligação da molécula aos receptores da célula-alvo. A melhora da psoríase ocorre logo nas primeiras semanas do seu uso, e está indicado, especialmente, em quadros graves, tanto cutâneos quanto articulares, nos quais necessitam pronta ação terapêutica. Descrição do caso: Relata-se caso de uma paciente com psoríase grave refratária a terapias sistêmicas prévias, incluindo metotrexate, ustequinumabe, secuquinumabe, acitretina e ciclosporina, com melhora de 70% em relação a avaliação inicial no índice de gravidade da psoríase por área, após início de fase de indução com infliximabe. Discussão: A paciente apresentou resposta satisfatória à terapia combinada de infliximabe com ciclosporina e acitretina, sem qualquer manifestação de eventos adversos, mas com melhoria das lesões e dos escores de avaliação. Poucos relatos de caso e estudos randomizados estão presentes na literatura sobre a associação de ciclosporina e imunobiológicos, devido ao risco de imunossupressão grave, porém no caso relatado não houve aumento desse risco. Entretanto, reconhecemos que é impossível avaliar adequadamente a efetividade e a segurança de qualquer tratamento com anticorpo monoclonal para doenças crônicas com apenas 14 dias de seguimento. Conclusão: O antifator de necrose tumoral alfa associado a ciclosporina mostrou ser uma combinação efetiva durante a fase de indução e e de grande valia neste caso, em que a paciente apresentava psoríase refratária a outras terapêuticas e necessidade de rápida resposta clínica.

Onicomicose simulando melanoma acral ungueal: relato de caso / Onychomycosis simulating melanoma nail acral: case report

Contexto: Onicomicose (tinha ungueal) pode ser causada por fungos dermatófitos, não dermatófitos ou leveduras. Raramente, pode se manifestar como melanoquínia longitudinal (mancha acastanhada, longitudinalmente, na lâmina ungueal), sendo diagnóstico diferencial do melanoma acral ungueal (MAU), uma neoplasia maligna do aparelho ungueal. Descrição do caso: Paciente do sexo feminino, 63 anos de idade, com surgimento recente de melanoníquia longitudinal na unha do primeiro quirodáctilo direito. Tendo em vista a suspeita clínica de MAU, foi realizada biópsia da matriz ungueal. Laudo histopatológico evidenciou tratar-se de onicomicose. Paciente apresentou resolução completa do quadro após seis meses de tratamento com antifúngico oral. Discussão: Apesar da semelhança clínica entre a melanoníquia longitudinal do MAU e a de uma forma clínica incomum de onicomicose, tais doenças apresentam prognósticos díspares. Exames complementares, como o exame anatomopatológico da matriz ungueal, podem ser de fundamental importância na elucidação diagnóstica. Conclusões: O exame físico completo envolve a avaliação das unhas. A melanoníquia longitudinal não ocorre exclusivamente no MAU; doenças benignas, como a onicomicose, também podem ter a mesma manifestação clínica.

Ictiose lamelar com apresentação na vida adulta: relato de caso / Ichthyosis lamellar with presentation in adult life: case report

Contexto: A ictiose lamelar é uma genodermatose rara, de herança autossômica recessiva. Pode ser causada por diferentes genes, principalmente mutação no gene TGM1 (transglutaminase 1) no cromossomo 14, e tem incidência de 1 caso em cada 200 mil nascidos vivos. A ictiose lamelar é causa de importante impacto na qualidade de vida. Relato da comunicação: Paciente do sexo feminino, 44 anos, procura atendimento médico para investigação de sintomas psiquiátricos, os quais foram avaliados. Foi afastado qualquer quadro psiquiátrico. Encaminhada à dermatologia, devido a evidente descamação lamelar disseminada, queratodermia palmoplantar, onicodistrofias e ectrópio bipalpebral. O exame clínico dermatológico e a avaliação histopatológica, evidenciaram características de ictiose lamelar, nunca tratada. Discussão: A ictiose lamelar é, na maioria das vezes, diagnosticada ao nascimento, com apresentação clínica muitas vezes sob a forma de bebê colódio. Este caso apresentou-se na vida adulta, com história desde o nascimento e, portanto, descartou-se a ictiose adquirida, relacionada a afecções nutricionais, metabólicas ou até paraneoplásicas. Conclusões: Este caso ilustra as manifestações da ictiose lamelar em paciente adulta em sua evolução natural, sem a interferência de tratamento.

Treatment of recurrent aphthous stomatitis with clofazimine.

OBJECTIVE: The aim was to investigate the safety and efficacy of clofazimine for the treatment of recurrent aphthous stomatitis. STUDY DESIGN: In this randomized controlled partially blind study, 23 patients received clofazimine 100 mg daily for 30 days and then 100 mg every other day. Twenty-three patients received colchicine 0.5 mg 3 times daily. Twenty patients received 1 placebo pill 2 times daily. All subjects received medications for 6 months. The chi-squared or Fisher exact tests were used to assess drug efficacy with respect to objective findings and symptoms. RESULTS: A greater percentage of individuals in the clofazimine group had no further aphthous episodes (17%-44% compared with

The oral mucosa in paucibacillary leprosy: a clinical and histopathological study.

BACKGROUND: Involvement of the oral mucosa can occur in lepromatous leprosy; however, lesions in the oral mucosa of paucibacillary patients have not been previously observed. OBJECTIVE: The objective of this study is to determine whether clinical and subclinical lesions exist in oral mucosa in nontreated paucibacillary leprosy patients, using clinical and histopathological examination. MATERIALS AND METHODS: A clinical and histopathological study involving 30 untreated paucibacillary leprosy patients was conducted. All patients underwent biopsies of the buccal mucosa, soft palate, and tongue. When acid-fast bacilli in association with inflammatory infiltrate, granulomatous or not, were encountered, it was considered "specific" involvement of the oral mucosa; and "nonspecific" involvement when the bacilli were not encountered. RESULTS: Eight nonspecific chronic inflammatory reactions and 1 granulomatous inflammatory process without acid-fast bacilli were detected. CONCLUSIONS: Paucibacillary leprosy patients do not exhibit specific, clinical or subclinical, involvement in the oral mucosa; nonspecific alterations occur even in the absence of signs and symptoms.

Histological and ultrastructural aspects of the tongue in undernourished rats.

UNLABELLED: There are few published studies on the effects of protein-caloric undernourishment on the oral mucosa. OBJECTIVES: The objective of this study is to verify the histological and ultrastructural aspects of the tongue mucosa in protein-caloric undernourished adult rats. MATERIAL AND METHODS: A clinical experimental study was done in thirty Wistar rats, 15 controls and 15 with protein-caloric undernourishment. The last group received ration in small amounts, with a reduced casein content, during 45 days. Rats were weighed every 3 days, from the first (90 days of life) to the last day of a 45-day dietary period, when they were sacrificed. Plasma was used for protein electrophoresis and their tongues were prepared for light and scanning electron microscopy. Analyses of variance and Student's t-test were used for statistical analysis. RESULTS: A significant decrease in weight and in plasma proteins was found in protein-caloric undernourished rats compared to the control group. Histological findings revealed no differences between the two groups and there were no statistically significant differences in the filiform papilla count under the scanning electron microscopy. CONCLUSION: Protein-caloric undernourishment does not cause alterations in the tongue mucosa of adult rats.

The oral mucosa in leprosy: a clinical and histopathological study.

INTRODUCTION: Multibacillary leprosy may involve the oral mucosa, with or without apparent lesions. There are few studies that deal with this issue in the era of multidrug therapy. AIM: To assess the frequency of oral mucosa involvement in multibacillary leprosy patients. PATIENTS AND METHODS: A transversal study with twenty non-treated multibacillary leprosy patients. The patients were treated in Dracena, São Paulo, between 2000 and 2002. Clinical examination of the oral mucosa was carried out. All patients were submitted to jugal mucosa, soft palate and tongue biopsies, in altered or in pre-established sites. The cross-sections were stained by techniques of hematoxilin-eosin and Ziehl-Neelsen. Granuloma and alcohol-acid-resistant bacilli findings determined the specific histopathological involvement. RESULTS: The study involved 19 patients with an average of 2.5 years of disease progression. Specific histopathological involvement occurred in the tongue and soft palate of one lepromatous patient with an apparently normal oral mucosa. CONCLUSIONS: (1) Clinical alterations in the oral mucosa does not imply disease involvement, it is necessary to have histopathological confirmation. (2) Apparent specific clinical alterations are rare. (3) The clinically normal oral mucosa can show specific histopathological involvement.