Try a new search

Format these results:

Searched for:



Total Results:


Management of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis with Intracapsular Tonsillectomy [Case Report]

Ezeh, Uche C; Kahn, Philip J; April, Max M
OBJECTIVE:This study aimed to present 2 children clinically diagnosed with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and treated with intracapsular tonsillectomy with adenoidectomy (ITA). METHODS:We conducted a retrospective analysis of 2 children who were referred for an otolaryngology consultation between 2019 and 2022 for surgical treatment of PFAPA syndrome. Both patients had symptoms strongly suggestive of PFAPA and were at risk for total tonsillectomy (TT) complications. ITA was performed using a microdebrider. Both patients were followed up postoperatively to assess for symptomatic resolution and complications. RESULTS:Two children exhibited recurrent febrile episodes prior to ITA. The procedure was efficacious in both patients, with neither experiencing postoperative complications or recurring PFAPA symptoms for over 1 year after surgery. CONCLUSION/CONCLUSIONS:Our study reported on the use of ITA as a surgical treatment option for PFAPA. We showed that ITA eliminated febrile attacks and was safely performed without postoperative complications in 2 pediatric patients after 1-year follow-up. Future studies involving larger cohorts of PFAPA patients and lengthier follow-ups will need to be conducted to further evaluate ITA as a surgical option. Laryngoscope, 2023.
PMID: 37597172
ISSN: 1531-4995
CID: 5619232

Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses [Case Report]

Guirguis, Justina; Iosim, Sonia; Jones, Derek; Likhite, Maryel; Chen, Fei; Kesserwan, Chimene; Gindin, Tatyana; Kahn, Philip J; Beck, David; Oza, Vikash S; Hillier, Kirsty
Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long-term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants.
PMID: 38413050
ISSN: 1525-1470
CID: 5634772

Lupus anti-coagulant hypoprothrombinemia syndrome across different ages: a case report and review of the literature

Chumsky, Jessica; Kahn, Philip J; Carroll, William L; Pierce, Kristyn A; Hillier, Kirsty
Lupus anti-coagulant hypoprothrombinemia syndrome (LAHPS) is a rare condition that can be difficult to treat. It increases the risk of thrombosis and bleeding due to the presence of lupus anti-coagulant and factor II deficiency, respectively. There are a limited number of cases described in the literature. Herein we describe a case of LAHPS with bleeding symptoms as a first clinical manifestation of systemic lupus erythematosus (SLE) in an 8-year-old female. She has had multiple recurrences of her bleeding symptoms, requiring treatment with steroids, cyclophosphamide, mycophenolate mofetil, and rituximab. Her course was later complicated by development of arthritis and lupus nephritis. Her complicated course provides a new perspective on the clinical course and treatment of LAHPS. We also present a comprehensive literature review which demonstrates the difficulty in treating patients with LAHPS with underlying SLE and the variability of the clinical course and management of LAHPS depending on the age at presentation.
PMID: 37157007
ISSN: 1434-9949
CID: 5476922

Synchronous disease onset and flares in siblings with PFAPA [Case Report]

Dammeyer, Kristen L; Schneider, Amanda; April, Max M; Kahn, Philip J
BACKGROUND:Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a clinical syndrome of unclear etiology. PFAPA has generally been considered a non-hereditary fever syndrome; however, this has been called into question with recent reports of family clustering. Few reports have been published describing siblings with PFAPA. To our knowledge, this is the first report of siblings with near simultaneous onset of disease followed by synchronous disease flares. CASE PRESENTATION/METHODS:We describe the case of near simultaneous onset of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis in siblings followed by synchronous disease flares of clear frequency and nearly identical character. Flares were characterized predominantly by fever, aphthous ulceration, cervical lymphadenitis, and the absence of infection. The fever episodes demonstrated a robust response to glucocorticoids and recurred in the same staggered manner every four weeks, with complete absence of symptoms and normal growth and development between episodes. Nine months after onset, the older sibling, a 5-year-old female, underwent tonsillectomy resulting in dramatic resolution of episodes. At the same time, her 2-year-old sister experienced resolution of her fever episodes, though she did not undergo tonsillectomy herself. CONCLUSION/CONCLUSIONS:This is an unusual case of simultaneous onset PFAPA followed by synchronous disease flares. PFAPA is an uncommon clinical syndrome, and it is rarely diagnosed in siblings. The etiology of PFAPA remains unclear. Though the disease is classically considered sporadic, there is a growing body of evidence to suggest that PFAPA may be heritable.
PMID: 36199113
ISSN: 1546-0096
CID: 5351632

Multisystem Inflammatory Syndrome in Children [Editorial]

Shust, Gail F; Soma, Vijaya L; Kahn, Philip; Ratner, Adam J
PMID: 34210761
ISSN: 1526-3347
CID: 4927192

Multisystem inflammatory syndrome in children (MIS-C) and retropharyngeal edema: A case series

Daube, Ariel; Rickert, Scott; Madan, Rebecca Pellett; Kahn, Philip; Rispoli, Joanne; Dapul, Heda
Multisystem inflammatory syndrome in children (MIS-C) is thought to follow SARS-CoV-2 infection and presents with fever and multisystem dysfunction. We report three children with suspected MIS-C found to have retropharyngeal edema without evidence of a bacterial etiology. We raise the possibility that an association between MIS-C and retropharyngeal edema exists.
PMID: 33752089
ISSN: 1872-8464
CID: 4822422

Mucocutaneous Manifestations of Multisystem Inflammatory Syndrome in Children During the COVID-19 Pandemic

Young, Trevor K; Shaw, Katharina S; Shah, Jinal K; Noor, Asif; Alperin, Risa A; Ratner, Adam J; Orlow, Seth J; Betensky, Rebecca A; Shust, Gail F; Kahn, Philip J; Oza, Vikash S
Importance/UNASSIGNED:To date, no study has characterized the mucocutaneous features seen in hospitalized children with multisystem inflammatory syndrome in children (MIS-C) or the temporal association of these findings with the onset of systemic symptoms. Objective/UNASSIGNED:To describe the mucocutaneous findings seen in children with MIS-C during the height of the coronavirus disease 2019 (COVID-19) pandemic in New York City in 2020. Design, Setting, and Participants/UNASSIGNED:A retrospective case series was conducted of 35 children admitted to 2 hospitals in New York City between April 1 and July 14, 2020, who met Centers for Disease Control and Prevention and/or epidemiologic criteria for MIS-C. Main Outcomes and Measures/UNASSIGNED:Laboratory and clinical characteristics, with emphasis on mucocutaneous findings, of children who met criteria for MIS-C. The characterization of mucocutaneous features was verified by 2 board-certified pediatric dermatologists. Results/UNASSIGNED:Twenty-five children (11 girls [44%]; median age, 3 years [range, 0.7-17 years]) were identified who met definitional criteria for MIS-C; an additional 10 children (5 girls [50%]; median age, 1.7 years [range, 0.2-15 years]) were included as probable MIS-C cases (patients met all criteria with the exception of laboratory test evidence of severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2] infection or known exposure). The results of polymerase chain reaction tests for SARS-CoV-2 were positive for 10 patients (29%), and the results of SARS-CoV-2 immunoglobulin G tests were positive for 19 patients (54%). Of the 35 patients, 29 (83%) exhibited mucocutaneous changes, with conjunctival injection (n = 21), palmoplantar erythema (n = 18), lip hyperemia (n = 17), periorbital erythema and edema (n = 7), strawberry tongue (n = 8), and malar erythema (n = 6) being the most common findings. Recognition of mucocutaneous findings occurred a mean of 2.7 days (range, 1-7 days) after the onset of fever. The duration of mucocutaneous findings varied from hours to days (median duration, 5 days [range, 0-11 days]). Neither the presence nor absence of mucocutaneous findings was significantly associated with overall disease severity. Conclusions and Relevance/UNASSIGNED:In this case series of hospitalized children with suspected MIS-C during the COVID-19 pandemic, a wide spectrum of mucocutaneous findings was identified. Despite their protean and transient nature, these mucocutaneous features serve as important clues in the recognition of MIS-C.
PMID: 33295957
ISSN: 2168-6084
CID: 4708992

COVID-19 associated Kawasaki-like multisystem inflammatory disease in an adult [Case Report]

Sokolovsky, Sabrina; Soni, Parita; Hoffman, Taryn; Kahn, Philip; Scheers-Masters, Joshua
Recent reports have described a secondary Multisystem Inflammatory Syndrome in Children (MIS-C) after a prior COVID-19 infection that often has features of Kawasaki disease (KD). Here, we report the case of a 36-year-old woman who presented to the emergency department hypotensive and tachycardic after 1 week of fevers, abdominal pain, vomiting and diarrhea, and was found to have the classic phenotype of complete Kawasaki's Disease including nonexudative conjunctivitis, cracked lips, edema of the hands and feet, palmar erythema, a diffuse maculopapular rash, and cervical lymphadenopathy. Initial laboratory studies were significant for hyponatremia, elevated liver function tests including direct hyperbilirubinemia, and leukocytosis with neutrophilia. Imaging revealed mild gallbladder wall edema, a small area of colitis, and small pleural effusion. She was treated for Kawasaki Disease Shock Syndrome (KDSS) with pulse dose solumedrol, IVIG, and aspirin with near resolution of symptoms and normalization of vital signs within 1 day and subsequent improvement in her laboratory abnormalities. She was later found to be COVID-19 IgG positive, suggesting past exposure. This case represents an early report of a KD-like illness in an adult with serologic evidence of a previous COVID-19 infection, similar to MIS-C. It suggests that the virulent strain of SARS-CoV-2 appears to cause a post-infectious inflammatory syndrome similar to KD in adults, as well as children. Our understanding of the myriad of COVID-19 symptoms and sequelae is rapidly evolving. We recommend physicians remain vigilant for inflammatory syndromes that mimic KD/KDSS which may warrant prompt treatment with IVIG and steroids.
PMID: 32631771
ISSN: 1532-8171
CID: 4525062

Multisystem Inflammatory Syndrome in Children Associated with Status Epilepticus [Case Report]

Shenker, Jennifer; Trogen, Brit; Schroeder, Laura; Ratner, Adam J; Kahn, Philip
A 12-year-old boy presented to the emergency department with findings concerning for multisystem inflammatory syndrome in children. After clinical stabilization following treatment with antibiotics, remdesivir, and anakinra, the patient was noted to have episodes of altered mentation. Video electroencephalogram revealed status epilepticus, which was subsequently controlled with antiepileptic medications.
PMID: 32712284
ISSN: 1097-6833
CID: 4614242

Evaluation of the reliability and validity of the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) in pediatric cutaneous lupus among pediatric dermatologists and rheumatologists

Kushner, C J; Tarazi, M; Gaffney, R G; Feng, R; Ardalan, K; Brandling-Bennett, H A; Castelo-Soccio, L; Chang, J C; Chiu, Y E; Gmuca, S; Hunt, R D; Kahn, P J; Knight, A M; Mehta, J; Pearson, D R; Treat, J R; Wan, J; Yeguez, A C; Concha, J S S; Patel, B; Okawa, J; Arkin, L M; Werth, V P
BACKGROUND:The CLASI is a reliable outcome measure for cutaneous lupus erythematosus (CLE) in adults used in clinical trials. However, it has not been validated in children, limiting clinical trials for pediatric CLE. OBJECTIVE:This study aims to validate the CLASI in pediatrics. METHODS:Eleven pediatric patients with CLE, six dermatologists and six rheumatologists, participated. Physicians were trained to use the CLASI and Physician Global Assessment (PGA). Physicians individually rated all patients using both tools. Each physician reassessed two randomly selected patients. Within each physician group, Intraclass Correlation Coefficient (ICC) was calculated to assess the reliability of each measure. RESULTS:CLASI activity scores demonstrated excellent inter- and intra-rater reliability (ICC>0.90), while the PGA activity scores had good inter-rater reliability (ICC 0.73-0.77) among both specialties. PGA activity scores showed excellent intra-rater reliability (ICC=0.89) and good intra-rater reliability (ICC=0.76) for dermatologists and rheumatologists, respectively. LIMITATIONS/CONCLUSIONS:Limitations of this study included the small sample size of patients and potential recall bias during the physician re-rating session. CONCLUSION/CONCLUSIONS:CLASI activity measurement showed excellent inter- and intra-rater reliability in pediatric CLE and superiority to findings with the PGA. These results demonstrate that the CLASI is a reliable and valid outcome instrument for pediatric CLE.
PMID: 30033560
ISSN: 1365-2133
CID: 3216292