Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 617
BMJ Case Rep ; 14(5)2021 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-33986008


Recurrent aphthous ulcers are the most prevalent oral mucosal disease, but the subset major aphthous ulcer is a less frequent type. These ulcers are refractory, may persist for several weeks to months, and interfere with the normal state of health. The aetiology is multifactorial and so is the treatment. We present a case of an adolescent male patient reported with multiple oral ulcers. He developed three ulcers simultaneously and suffered for 10 months despite using topical medications prescribed by different dental practitioners. We executed a multidisciplinary treatment approach that resulted in a long-term disease-free state. The treatment methods followed in our case could be a successful model to implement by medical practitioners and oral physicians when the situation demands.

Úlceras Orais , Estomatite Aftosa , Adolescente , Odontólogos , Humanos , Masculino , Papel Profissional , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/etiologia
Zhongguo Dang Dai Er Ke Za Zhi ; 23(2): 143-147, 2021 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-33627208


OBJECTIVE: To study the clinical features of children with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, a polygenic and multifactorial autoinflammatory disease with unknown pathogenesis. METHODS: A retrospective analysis was performed on the medical data of 13 children with PFAPA syndrome. RESULTS: All 13 children had disease onset within the age of 3 years, with a mean age of onset of (14±10) months. They all had periodic fever, with 8-18 attacks each year. The mean interictal period of fever was (30±5) days. Pharyngitis, cervical adenitis, and aphthous stomatitis were the three cardinal symptoms, with incidence rates of 100% (13/13), 85% (11/13), and 38% (5/13) respectively. There were increases in white blood cells, C-reactive protein, and erythrocyte sedimentation rate during fever. Of all the 13 children, 6 underwent whole exome sequencing and 7 underwent panel gene detection for autoinflammatory disease, and the results showed single heterozygous mutations in the MEFV gene in 6 children (46%). Recurrent fever in all children gradually returned to normal without antibiotics. Ten children were treated with a single dose of glucocorticoids, and fever was relieved after treatment. Of all the children, 4 were treated with cimetidine, among whom 2 had response; 4 children were treated with colchicine, among whom 2 had response and 2 were withdrawn from the drug due to adverse reactions. Tonsillectomy was performed for 2 children, among whom 1 was followed up for 3 years without recurrence and 1 still had recurrence. CONCLUSIONS: For children with unexplained periodic fever with early onset accompanied by pharyngitis, cervical adenitis, aphthous stomatitis, elevated inflammatory indices, and good response to glucocorticoids, PFAPA syndrome should be considered. This disorder has good prognosis, and early diagnosis can avoid the long-term repeated use of antibiotics.

Linfadenite , Faringite , Estomatite Aftosa , Criança , Pré-Escolar , Febre/etiologia , Humanos , Lactente , Linfadenite/diagnóstico , Faringite/diagnóstico , Faringite/tratamento farmacológico , Pirina , Estudos Retrospectivos , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/tratamento farmacológico , Estomatite Aftosa/genética
J Trop Pediatr ; 67(1)2021 01 29.
Artigo em Inglês | MEDLINE | ID: mdl-33411886


BACKGROUND: We investigated the practical use of procalcitonin (PCT), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and complete blood count (CBC) parameters in distinguishing periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) attacks from exudative tonsillitis associated with group A streptococcus (GAS) and Epstein-Barre virus (EBV). METHODS: The study population consisted of cases with exudative tonsillitis who had been subsequently diagnosed as PFAPA, EBV, and GAS tonsillitis through a period of 6 years. We retrieved the CBC, ESR, CRP and PCT data from patients' medical records. RESULTS: Of the patients, 47 (35.6%) had PFAPA, 36 (27.3%) had GAS and 49 (37.1%) had EBV tonsillitis. Median CRP, ESR and PCT values of patients with PFAPA were 78 (17-92) mg/dl, 44 (11-83) mm/h, 0.16 (0.01-1.45) ng/ml, respectively. The CRP and ESR levels were significantly higher in PFAPA and GAS groups compared with the EBV group (p = 0.001). There was no significant difference between the groups regarding the PCT levels. CONCLUSION: The study indicated no benefit of PCT in distinguishing PFAPA from the others. However, we found that CRP, ESR, and CBC parameters could be useful in identifying PFAPA and GAS than EBV tonsillitis.

Linfadenite , Faringite , Estomatite Aftosa , Tonsilite , Reação de Fase Aguda , Diagnóstico Diferencial , Febre , Humanos , Faringite/diagnóstico , Estomatite Aftosa/diagnóstico , Tonsilite/diagnóstico
Adv Ther ; 38(2): 1078-1093, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33315168


INTRODUCTION: Analogies or differences of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome in children and adults are barely known. The aim of our study was to compare the overall characteristics of a large cohort of patients, both children and adults, diagnosed with PFAPA syndrome. METHODS: In the last decade, we identified 120 children and 63 adults with periodically recurring fevers, who fulfilled the criteria for PFAPA diagnosis. The two subcohorts were analyzed according to demographic features, clinical manifestations, laboratory data, and responses to therapies. RESULTS: The mean age of onset was 2.4 ± 1.5 and 19.7 ± 10.3 years, respectively, in children and adults, while attacks occurred every 3.8 ± 0.8 and every 4.3 ± 2.3 weeks, respectively, in children and adults. A higher prevalence of exudative pharyngitis was observed in children (58.8%), and the majority of children had only two cardinal signs during flares. In adults, there was a higher interpersonal variability of the intercritical periods. Inflammatory markers measured during non-febrile periods were normal in children but altered in the totality of adults during febrile periods. A strong efficacy of corticosteroids in controlling the pediatric syndrome was observed, but response rates to steroids were less brilliant in adults. Colchicine and interleukin-1 inhibitors were used in the management of the steroid-resistant adult syndrome. Conversely, tonsillectomy was performed in a very low number of children, but was effective in 60.7% of adults when treated after 16 years. The mean age of disappearance of PFAPA symptoms has been 6.4 ± 2.4 years in children, while only 27% of adults have shown a complete drug-free symptom regression. CONCLUSIONS: A linear conformity of the PFAPA syndrome has been observed between pediatric and adult patients. PFAPA symptoms tended to disappear with no sequelae in 94.1% of children, while the disease was still active in almost 3/4 of adults at the time of our assessment.

Linfadenite , Faringite , Estomatite Aftosa , Tonsilectomia , Adulto , Criança , Pré-Escolar , Febre/diagnóstico , Febre/tratamento farmacológico , Febre/epidemiologia , Humanos , Lactente , Linfadenite/diagnóstico , Linfadenite/tratamento farmacológico , Linfadenite/epidemiologia , Faringite/diagnóstico , Faringite/tratamento farmacológico , Faringite/epidemiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/tratamento farmacológico , Estomatite Aftosa/epidemiologia
Int. j. odontostomatol. (Print) ; 14(4): 572-574, dic. 2020. graf
Artigo em Espanhol | LILACS | ID: biblio-1134540


RESUMEN: Las úlceras orales (UO) son uno de los signos de toxicidad por metotrexato (Mtx) aún en pacientes con esquemas de dosis bajas para el control de artritis reumatoide (AR). En estos casos establecer un diagnóstico correlacionando UO con el medicamento puede ser un reto. Presentamos 2 casos clínicos de pacientes con AR en tratamiento con Mtx, las cuales desarrollaron UO. En los dos casos, interesantemente los pacientes fueron evaluados tanto por especialistas del área médica y oral sin tener un resultado satisfactorio después de múltiples tratamientos. Las UO resolvieron posterior a la suspensión del medicamento. Se estableció el diagnóstico de Estomatitis por Metotrexato (EMtx) por un especialista en medicina oral. El manejo multidisciplinario en estos casos es clave para el establecimiento de un diagnóstico y tratamiento oportuno.

ABSTRACT: Oral ulcers (OU) are a sign of methotrexate (Mtx) toxicity, even in patients with rheumatoid arthritis (RA) that are under a low-dose regime. In those cases, establishing a diagnosis correlating OU with the medication can be quite a challenge. Here we present 2 clinical cases of RA patients under Mtx treatment that developed OU. Interestingly, in both cases the patients were evaluated by two specialists in the medical and dentistry area, and following multiple treatments there was no satisfactory result. However, oral ulcers resolved after stopping the treatment. A diagnosis of Metotrexato stomatitis was established (SMtx) by a specialist in oral medicine. Multidisciplinary management in these cases is key for the establishment of an opportune diagnosis and treatment.

Humanos , Feminino , Idoso , Estomatite Aftosa/diagnóstico , Metotrexato/efeitos adversos , Úlceras Orais/diagnóstico , Úlceras Orais/terapia , Artrite Reumatoide , Úlceras Orais/complicações , Úlceras Orais/induzido quimicamente , Toxicidade
Reumatol. clín. (Barc.) ; 16(5,pt.2): 416-418, sept.-oct. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-199737


La enfermedad relacionada con IgG4 (ER-IgG4) se caracteriza por un infiltrado linfoplasmocítico rico en células plasmáticas IgG4 positivas, fibrosis estoriforme y flebitis obliterativa. Se puede presentar como seudotumor orbitario, parotidomegalia, nefritis túbulo intersticial, fibrosis retroperitoneal o pancreatitis, aunque prácticamente cualquier órgano puede verse afectado. Presentamos el caso de una mujer de 37 años, que presenta un cuadro de disfonía severa y aftosis oral dolorosa recurrente, con unos hallazgos histopatológicos a nivel laríngeo que muestran infiltrado linfoplasmocítico y positividad para IgG4, así como amplios estudios descartando otras etiologías, por lo que se confirma una laringitis por ER-IgG4, cuya descripción en la literatura es excepcional

IgG4-related disease is characterized by a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis and obliterative phlebitis. It can present as parotid gland enlargement, tubulointerstitial nephritis, retroperitoneal fibrosis or pancreatitis, although nearly any organ can be affected. We report the case of a 37-year-old woman who presented with severe dysphonia and recurrent painful aphthous ulcers, with histopathological findings at the level of the larynx that revealed a lymphoplasmacytic infiltrate and IgG4 positivity. In addition, extensive studies were performed to rule out other diseases. Thus the diagnosis was IgG4-related laryngitis, an exceptional finding in the literature

Humanos , Feminino , Adulto , Doença Relacionada a Imunoglobulina G4/diagnóstico , Estomatite Aftosa/diagnóstico , Laringite/diagnóstico , Estomatite Aftosa/etiologia , Laringite/etiologia , Disfonia/etiologia , Síndrome de Behçet/diagnóstico , Diagnóstico Diferencial
Actas dermo-sifiliogr. (Ed. impr.) ; 111(6): 471-480, jul.-ago. 2020. graf, ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-199503


La aftosis oral recidivante es una enfermedad inflamatoria crónica de la mucosa oral. Se caracteriza por presentar úlceras dolorosas en la cavidad oral sin que se encuentre una enfermedad subyacente que lo justifique. Ante la aparición de úlceras recidivantes en la mucosa oral habrá que realizar un correcto diagnóstico diferencial y descartar otras causas antes de llegar al diagnóstico de aftosis oral recidivante. Se trata de una enfermedad frecuente; según la población estudiada, se han documentado prevalencias entre el 5 y el 60%. Su patogenia es desconocida, pero se considera multifactorial. El tratamiento no está estandarizado y no es curativo, se pretende disminuir el dolor durante el brote, acortar la duración del mismo y evitar la aparición de nuevas lesiones

Recurrent aphthous stomatitis is a chronic inflammatory disease of the oral mucosa. It is characterized by painful mouth ulcers that cannot be explained by an underlying disease. Recurrent oral mucosal ulcers require a proper differential diagnosis to rule out other possible causes before recurrent aphthous stomatitis is diagnosed. The condition is common, with prevalence rates ranging from 5 to 60% in different series. Its pathogenesis is unknown, but multiple factors are considered to play a part. There are no standardized treatments for this condition and none of the treatments are curative. The goal of any treatment should be to alleviate pain, reduce the duration of ulcers, and prevent recurrence

Humanos , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/etiologia , Estomatite Aftosa/terapia , Diagnóstico Diferencial , Fatores de Risco , Recidiva
J Pediatr Adolesc Gynecol ; 33(4): 429-431, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32224248


BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome is a cyclic autoinflammatory disease generally diagnosed in childhood. There have been studies suggesting a relationship between menstruation and other autoinflammatory syndromes such as familial Mediterranean fever (FMF), but not PFAPA specifically. CASE: This case describes a patient with a diagnosis of PFAPA who experienced complete resolution with tonsillectomy only to have recurrence of symptoms with onset of menstruation. She experienced symptom control with initiation of oral contraceptives. SUMMARY AND CONCLUSION: Prior to this case report, there had been no evidence in the literature suggesting a relationship between PFAPA and menstruation despite the observed association in other autoinflammatory syndromes. Onset of menses may be a trigger in PFAPA.

Febre/complicações , Linfadenite/complicações , Menstruação/fisiologia , Faringite/complicações , Estomatite Aftosa/complicações , Criança , Feminino , Febre/diagnóstico , Humanos , Linfadenite/diagnóstico , Masculino , Faringite/diagnóstico , Recidiva , Estomatite Aftosa/diagnóstico , Síndrome
Arerugi ; 69(1): 53-58, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-32051370


We report an adult case of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, who had a tonsillectomy at 10 years old and relapsed later. An early 40's-year-old man had been suffering from recurrent fever attack once in 1-2 months during childhood. He was accompanied by fever which was persist for several days, aphthous stomatitis, tongued tonsillitis with moss, pharyngitis, and submandibular lymphadenitis with tenderness. He was not doing well during fare-up. At the time of admission, CRP level was 12.5mg/dl and the remarkably increased expression of CD64 on neutrophils was found. Bacterial infections and collagen diseases were excluded by the several examinations. We suspected PFAPA syndrome, and treated with cimetidine, but cimetidine was not effective. At the time of flare up, administration of prednisolone was remarkably effective. We diagnosed PFAPA syndrome on the basis of clinical courses. Genetic analysis of responsible gene of familial Mediterranean fever, MEFV showed E148Q heterozygous mutation in exon 2.Since an adult case of PFAPA syndrome is likely to be made misunderstanding for infectious recurrent pharyngitis, it is important to note that we should consider PFAPA syndrome as a differential diagnosis when we meet with the adult patient of recurrent fever.

Febre/diagnóstico , Linfadenite/diagnóstico , Faringite/diagnóstico , Pirina/genética , Estomatite Aftosa/diagnóstico , Adulto , Criança , Humanos , Masculino , Recidiva , Síndrome
BMJ Case Rep ; 13(2)2020 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-32107255


We report a case of Behçet's disease in a 9-year-old boy from Greece, presenting with a history of recurrent ulceration of the oral cavity. Following inspection of the oral cavity, which revealed lesions on both the upper and lower labial mucosa, as well as a large ulcer on the apex of the tongue, the diagnosis of Behçet's disease was immediately suspected. The diagnosis was confirmed using the International Criteria for Behçet's Disease. Nevertheless, as multiple diseases can cause recurrent oral aphthosis, an extensive differential diagnosis was made, and pertinent tests were undertaken to exclude other causes of oral ulceration. The approach to a patient with Behçet's disease, as well as its various clinical presentations and complications, is discussed.

Síndrome de Behçet/diagnóstico , Estomatite Aftosa/diagnóstico , Síndrome de Behçet/epidemiologia , Síndrome de Behçet/patologia , Criança , Diagnóstico Diferencial , Grécia/epidemiologia , Humanos , Masculino , Estomatite Aftosa/patologia
Cytogenet Genome Res ; 160(1): 11-17, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31982875


Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.

Cromossomos Humanos Par 8/genética , Cromossomos Humanos Par 8/ultraestrutura , Neutropenia/genética , Úlceras Orais/genética , Estomatite Aftosa/genética , Pré-Escolar , Aberrações Cromossômicas , Transtornos Cromossômicos/genética , Citogenética , Feminino , Marcadores Genéticos , Genótipo , Humanos , Cariotipagem , Linfócitos/metabolismo , Metáfase , Mosaicismo , Neutropenia/complicações , Neutropenia/diagnóstico , Análise de Sequência com Séries de Oligonucleotídeos , Úlceras Orais/complicações , Úlceras Orais/diagnóstico , Fenótipo , Estomatite Aftosa/complicações , Estomatite Aftosa/diagnóstico
Oral Dis ; 26(1): 89-95, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31596995


OBJECTIVES: To investigate the clinical advices pharmacists would give to patients who present with various oral mucosal lesions. SUBJECTS AND METHODS: One hundred and twenty pharmacists in three major cities in the United Arab Emirates (UAE) were approached by senior dental students acting as mystery shoppers. Pharmacists were shown an image of one of four oral mucosal lesions representing candidosis, aphthous ulcer, erosive lichen planus and squamous cell carcinoma (SCC). Pharmacists' referral pattern and choices of medications were recorded and assessed against demographic variables. RESULTS: Eighty-eight per cent (88%) of pharmacists dispensed a non-prescription medication to treat the oral lesions, including SCC, while only 12% recommended that the lesion shown to them be assessed by a clinician. Among all referral recommendations, 32% were for SCC (p = .006). Geographical proximity of a clinic to the pharmacy was a significant factor in determining pharmacists' referral recommendation (p = .036). CONCLUSION: Most pharmacists dispensed a medication for oral mucosal lesions, including potentially malignant and malignant ones, without referring patients to a medical or dental practitioner. Pharmacists should be aware of the serious nature of some oral mucosal lesions and the necessity to refer those cases to a qualified practitioner for proper clinical assessment.

Competência Clínica , Serviços Comunitários de Farmácia , Doenças da Boca/diagnóstico , Doenças da Boca/terapia , Candidíase/diagnóstico , Candidíase/terapia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/terapia , Humanos , Líquen Plano/diagnóstico , Líquen Plano/terapia , Mucosa Bucal/patologia , Farmacêuticos , Encaminhamento e Consulta/estatística & dados numéricos , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/terapia , Emirados Árabes Unidos
Reumatol. clín. (Barc.) ; 15(6): 355-359, nov.-dic. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-189653


INTRODUCCIÓN: El síndrome PFAPA es una enfermedad autoinflamatoria de diagnóstico clínico. Se han propuesto diversos tratamientos; entre ellos, la tonsilectomía podría ser un tratamiento efectivo. MATERIAL Y MÉTODOS: Estudio multicéntrico retrospectivo. Se incluyeron pacientes diagnosticados de síndrome PFAPA, según los criterios de Thomas, en 3 hospitales madrileños, entre 2009-2013. RESULTADOS: Se incluyeron 32 casos. Las medianas de edad de inicio del cuadro y al diagnóstico fueron 32 meses (RIQ 24-44) y 47,5 meses (RIQ 37-60), respectivamente. Se hallaron incrementos en las cifras de leucocitos (13.580/μl [RIQ 8.200-16.600] vs.8.300/μl [RIQ 7.130-9.650], p = 0,005), neutrófilos (9.340/μl [RIQ 5.900-11.620] vs.3.660/μl [RIQ 2.950-4.580], p = 0,002) y proteína C reactiva (11,0mg/dl [RIQ 6,6-12,7] vs.0,2mg/dl [RIQ 0,1-0,6], p = 0,003) durante los episodios febriles, respecto a los periodos libres de síntomas. El 80,8% refería remisión de los síntomas en 24h tras corticoterapia oral. Fueron tonsilectomizados 14 pacientes. En 11 cesaron los episodios febriles, mientras que en 3 se redujo su frecuencia; hubo 2 sangrados posquirúrgicos como complicación. El cuadro se había resuelto en el 56,3% de los pacientes, a una mediana de edad de 60 meses (RIQ 47-95), con una duración similar entre los pacientes que fueron tonsilectomizados y los que no. CONCLUSIONES: Se presenta una cohorte amplia de niños con síndrome de PFAPA en la que se confirma que, en nuestro medio, los niños con este síndrome presentan unas características clínicas y analíticas similares a las descritas en la literatura, con buena respuesta a corticoterapia y elevada resolución de la clínica tras la amigdalectomía

INTRODUCTION: PFAPA syndrome is an autoinflammatory disease whose diagnosis is mainly clinical. Several treatments have been proposed; among them, tonsillectomy could be an effective one. MATERIAL AND METHODS: Retrospective multicenter study. Patients included were diagnosed with PFAPA syndrome, according to the Thomas criteria, in 3 hospitals in Madrid between 2009-2013. RESULTS: Thirty-two cases were included. Median age at onset and at diagnosis were 32 months (IQR 24-44) and 47.5 months (IQR 37-60), respectively. There were increases in leukocytes (13,580/μL [IQR 8,200-16,600] vs.8,300/μL [IQR 7,130-9,650], P=.005), neutrophils (9,340/μL [IQR 5,900-11,620] vs.3,660/μL [IQR 2,950-4,580], P=.002) and C-reactive protein (11.0mg/dL [IQR 6.6-12.7] vs.0.2mg/dL [IQR 0.1-0.6], P=.003) during febrile episodes. In all, 80.8% of patients reported remission of symptoms within 24h after oral corticosteroid therapy. Fourteen patients were tonsillectomized. In 11, the febrile episodes stopped while, in 3, the frequency was reduced; there were 2 cases of postoperative bleeding. The disease was resolved in 56.3% of the patients, at a median age of 60 months (IQR 47-95), with similar duration in patients who were tonsillectomized and those who were not. CONCLUSIONS: We present a large cohort of children with PFAPA syndrome, with clinical and analytical features similar to those described in the literature, and a good response to corticosteroids and a high resolution rate of symptoms after tonsillectomy

Humanos , Masculino , Feminino , Pré-Escolar , Febre/diagnóstico , Febre/epidemiologia , Linfadenite/diagnóstico , Linfadenite/epidemiologia , Faringite/diagnóstico , Faringite/epidemiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/epidemiologia , Estudos de Coortes , Progressão da Doença , Estudos Retrospectivos , Espanha/epidemiologia , Síndrome , Saúde da População Urbana
Lakartidningen ; 1162019 Oct 29.
Artigo em Sueco | MEDLINE | ID: mdl-31661147


Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is the most common autoinflammatory disorder among children in many parts of the world and an important differential diagnosis in children presenting with recurrent fever episodes. Commonly, PFAPA has an onset under the age of 5 years. Fever episodes in PFAPA usually last 3-6 days and are associated with one or more of the cardinal symptoms aphthous stomatitis, pharyngitis and cervical adenitis. The fever episodes typically recur with an interval of 3-6 weeks, often with a striking regularity. During the episodes, the patient has elevated inflammatory variables such as CRP and serum amyloid A (SAA) and may sometimes have additional symptoms such as abdominal pain, nausea and leg pain. Between the fever episodes, the patient is typically free of symptoms with normalized inflammatory variables and grows normally. Awareness and recognition of PFAPA is key to providing the patient with adequate treatment and avoiding misdiagnosis.

Doenças Hereditárias Autoinflamatórias/diagnóstico , Biomarcadores/sangue , Pré-Escolar , Diagnóstico Diferencial , Feminino , Febre/diagnóstico , Febre/tratamento farmacológico , Febre/etiologia , Doenças Hereditárias Autoinflamatórias/classificação , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Humanos , Inflamação/sangue , Linfadenite/diagnóstico , Linfadenite/tratamento farmacológico , Linfadenite/etiologia , Masculino , Faringite/diagnóstico , Faringite/tratamento farmacológico , Faringite/etiologia , Estomatite Aftosa/diagnóstico , Estomatite Aftosa/tratamento farmacológico , Estomatite Aftosa/etiologia , Síndrome
Clin Exp Rheumatol ; 37 Suppl 121(6): 116-118, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31603071


OBJECTIVES: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a multifactorial autoinflammatory disease (AID), which mainly affects children. There have been hardly any cases reported concerning the Chinese population. We aimed to describe the first cohort of adult PFAPA patients in China. METHODS: We evaluated all the adult patients suffering from PFAPA syndrome diagnosed in our centre from April 2015 through March 2018. The patients were diagnosed clinically, and whole exome sequencing was performed in each patient to rule out mono-genic AIDs. RESULTS: During the study period, a total of 9 adult patients (8 men, 1 woman) with PFAPA syndrome were diagnosed. They all had disease onset in adulthood, and the mean age at onset was 25.2±9.5 years. The mean duration of attacks was 4.1±1.0 days, and the mean interval between attacks was 6.2±2.7 weeks. Apart from periodic fever, which was present in all patients, pharyngitis, cervical adenitis and aphthous stomatitis were present in 89%, 67% and 44% patients, respectively. Other common symptoms included fatigue (100%), headache (56%), and myalgia (55%). Inflammatory markers, except ferritin, increased during attacks and returned to normal afterwards. Glucocorticoids given at onset of attacks were effective, while colchicine and tonsillectomy were of no effect. CONCLUSIONS: Our study is the first to suggest the presence of PFAPA syndrome in the Chinese adult population. Clinicians should take into account PFAPA syndrome when diagnosing patients suffering from recurrent fevers of unknown origin, especially those with pharyngitis, cervical adenopathy and aphthous stomatitis.

Linfadenite , Faringite , Estomatite Aftosa , Adulto , Idade de Início , China , Feminino , Febre , Humanos , Linfadenite/diagnóstico , Masculino , Faringite/diagnóstico , Estomatite Aftosa/diagnóstico