Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses.

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.

Management of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis with Intracapsular Tonsillectomy.

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.

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

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.

Synchronous disease onset and flares in siblings with PFAPA.

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.

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

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.

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

Importance: 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: 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: 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.

Multisystem Inflammatory Syndrome in Children Associated with Status Epilepticus.

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.

COVID-19 associated Kawasaki-like multisystem inflammatory disease in an adult.

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.

Comparing the importance of quality measurement themes in juvenile idiopathic inflammatory myositis between patients and families and healthcare professionals.

Background: A standardized set of quality measures for juvenile idiopathic inflammatory myopathies (JIIM) is not in use. Discordance has been shown between the importance ascribed to quality measures between patients and families and physicians. The objective of this study was to assess and compare the importance of various aspects of high quality care to patients with JIIM and their families with healthcare providers, to aid in future development of comprehensive quality measures.

Neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis.

This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease.

A novel de novo mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Mutations that activate the protease calpain-5 ( cause a nonsyndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neovascularization, and intraocular fibrosis. We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo missense mutation (c.865C>T, p.

Seroprevalence of Baylisascaris procyonis Infection among Humans, Santa Barbara County, California, USA, 2014-2016.

Baylisascaris procyonis (raccoon roundworm) infection is common in raccoons and can cause devastating pathology in other animals, including humans. Limited information is available on the frequency of asymptomatic human infection. We tested 150 adults from California, USA, for B.

Childhood Arthritis and Rheumatology Research Alliance consensus clinical treatment plans for juvenile dermatomyositis with skin predominant disease.

Background: Juvenile dermatomyositis (JDM) is the most common form of the idiopathic inflammatory myopathies in children. A subset of children have the rash of JDM without significant weakness, and the optimal treatments for these children are unknown. The goal of this study was to describe the development of consensus clinical treatment plans (CTPs) for children with JDM who have active skin rashes, without significant muscle involvement, referred to as skin predominant JDM in this manuscript.

Childhood Arthritis and Rheumatology Research Alliance Consensus Clinical Treatment Plans for Juvenile Dermatomyositis with Persistent Skin Rash.

Objective: Juvenile dermatomyositis (JDM) is the most common form of idiopathic inflammatory myopathy in children. While outcomes are generally thought to be good, persistence of skin rash is a common problem. The goal of this study was to describe the development of clinical treatment plans (CTP) for children with JDM characterized by persistent skin rash despite complete resolution of muscle involvement.

Acute Urinary Retention Caused by an Ovarian Teratoma-A Unique Pediatric Presentation and Review.

Background: Acute urinary retention (AUR) is a rare diagnosis both in pediatric and adult female populations, especially when compared to adult males. AUR occurs in women at a rate of 7 in 100,000 per year in a 1:13 female to male ratio. Multiple studies have shown that within the pediatric population AUR is far less common in females and is caused by different pathologies than AUR in adult women.

Juvenile idiopathic arthritis - what the clinician needs to know.

Juvenile idiopathic arthritis (JIA) includes several forms of chronic arthritis in childhood with no apparent cause. JIA is the most common rheumatic disease in children, and may result in pain, joint deformity, and growth im- pairment, with possible persistent active arthritis into adulthood. Prior treatment involved non-specific agents, several with significant adverse effects.

Juvenile idiopathic arthritis: an update for the clinician.

Juvenile idiopathic arthritis (JIA) comprises a collection of all forms of chronic arthritis in childhood with no apparent cause. JIA is the most common rheumatic disease in children, and may result in significant pain, joint deformity, and growth impairment, with persistence of active arthritis into adulthood. Prior to the mid 1990s, the therapeutic armamentarium for JIA was more limited, utilizing non- specific agents, many with significant adverse effects.

Asymptomatic giant coronary aneurysm in an adolescent with Behcet's syndrome.

Objective: Behcet's is an idiopathic multi-organ syndrome, which may have onset during childhood. Vascular involvement is uncommon, with rarely reported coronary aneurysm formation. We present a case report of a teenager girl who developed recalcitrant life-threatening Behcet's vasculitis, involving both small and large venous and arterial systems including a giant coronary aneurysm.

Consensus treatments for moderate juvenile dermatomyositis: beyond the first two months. Results of the second Childhood Arthritis and Rheumatology Research Alliance consensus conference.

Objective: To use consensus methods and the considerable expertise contained within the Childhood Arthritis and Rheumatology Research Alliance (CARRA) organization to extend the 3 previously developed treatment plans for moderate juvenile dermatomyositis (DM) to span the full course of treatment.

Methods: A consensus meeting was held in Chicago on April 23-24, 2010, involving 30 pediatric rheumatologists and 4 lay participants. Nominal group technique was used to achieve consensus on treatment plans that represented typical management of moderate juvenile DM.