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Frontiers in Pediatrics 2024Inborn errors of immunity (IEI) can often be misdiagnosed early in life due to their heterogenous clinical presentations. Interleukin-1 receptor-associated kinase 4...
Inborn errors of immunity (IEI) can often be misdiagnosed early in life due to their heterogenous clinical presentations. Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is one of the rare innate immunodeficiency disorders. We present the case of a patient who presented at the age of 15 days with meningitis and septic shock that responded to antibiotics. She was admitted again at the age of 45 days with bacteremia that was associated with increased inflammatory markers. Her third admission was at the age of 2.5 months due to left sided peri-orbital cellulitis that was again associated with elevated inflammatory markers. At 3.5 months, she experienced left orbital cellulitis, which was complicated by extensive sinus involvement, erosion, and abscess formation in the pterygopalatine fossa. Her condition progressed to septic shock and required multiple antibiotics and surgical interventions for drainage and control of the infection source. Both abscess and blood culture were positive for . An IEI was suspected but basic immunology testing was normal. Whole Exome Sequencing was performed and a novel mutation in IRAK4 was detected. In conclusion, we highlight the importance of raising awareness among pediatricians about the potentially lethal IEI and the need to consult specialists when these diseases are suspected. Among them is IRAK-4 deficiency which can be diagnosed by sophisticated functional assays and/or genetic testing.
PubMed: 38487470
DOI: 10.3389/fped.2024.1340367 -
American Journal of Ophthalmology Case... Jun 2024Two cases are described of necrotizing Sweet syndrome (nSS), a rare variant of acute febrile neutrophilic dermatosis that mimics necrotizing soft tissue infections.
PURPOSE
Two cases are described of necrotizing Sweet syndrome (nSS), a rare variant of acute febrile neutrophilic dermatosis that mimics necrotizing soft tissue infections.
OBSERVATION
A 74-year-old female with myelodysplastic syndrome (MDS) presented with isolated periorbital nSS that closely mimicked necrotizing fasciitis (NF); she displayed pathergy to debridement, was exquisitely responsive to corticosteroids, and underwent successful first-stage reconstruction of the eyelid with full-thickness skin grafting. A second 40-year-old female patient with relapsed acute myelogenous leukemia (AML) presented with multifocal nSS most prominently involving the eyelid. Positive herpes zoster virus (HSV) PCR and bacterial superinfection complicated the diagnosis. She improved with chemotherapy for AML and corticosteroid therapy.
CONCLUSION
nSS is rare and a high level of clinical suspicion as well as an understanding of its distinguishing features is necessary to avoid undue morbidity. Identification of pathergy, histopathology, microbiology, and clinical context are critical to avoid misdiagnosis of infection.
PubMed: 38487334
DOI: 10.1016/j.ajoc.2024.102033 -
Emergency Medicine Australasia : EMA Mar 2024There is substantial practice variation in the management of cellulitis with limited prospective studies describing the course of cellulitis after diagnosis. We aimed to...
OBJECTIVE
There is substantial practice variation in the management of cellulitis with limited prospective studies describing the course of cellulitis after diagnosis. We aimed to describe the demographics, clinical features (erythema, warmth, swelling and pain), patient-reported disease trajectory and medium-term follow-up for ED patients with cellulitis.
METHODS
Prospective observational cohort study of adults diagnosed with cellulitis in two EDs in Southeast Queensland, Australia. Patients with (peri)orbital cellulitis and abscess were excluded. Data were obtained from a baseline questionnaire, electronic medical records and follow-up questionnaires at 3, 7 and 14 days. Clinician adjudication of day 14 cellulitis cure was compared to patient assessment. Descriptive analyses were conducted.
RESULTS
Three-hundred patients (mean age 50 years, SD 19.9) with cellulitis were enrolled, predominantly affecting the lower limb (75%). Cellulitis features showed greatest improvement between enrolment and day 3. Clinical improvement continued gradually at days 7 and 14 with persistent skin erythema (41%) and swelling (37%) at day 14. Skin warmth was the feature most likely to be resolved at each time point. There was a discrepancy in clinician and patient assessment of cellulitis cure at day 14 (85.8% vs. 52.8% cured).
CONCLUSIONS
A clinical response of cellulitis features can be expected at day 3 with ongoing slower improvement over time. Over one third of patients had erythema or swelling at day 14. Patients are less likely than clinicians to deem their cellulitis cured at day 14. Future research should include parallel patient and clinician evaluation of cellulitis to help develop clearer definitions of treatment failure and cure.
PubMed: 38481041
DOI: 10.1111/1742-6723.14401 -
Narra J Dec 2023Mucormycosis is an emerging disease that primarily affects immunocompromised patients; however, it has also been reported in immunocompetent individuals. Studies in the...
Mucormycosis is an emerging disease that primarily affects immunocompromised patients; however, it has also been reported in immunocompetent individuals. Studies in the pediatric population are limited and reported mostly in case studies or series. The aim of this case report is to present a pediatric mucormycosis originated from Sumatra Island, Indonesia. A 13-year-old boy was referred to a tertiary hospital with facial necrosis involving the nasal, oral, and left maxillary areas, as well as left periorbital edema. No known underlying conditions were documented. The diagnosis was confirmed by histopathological findings of broad, pauci-septate, ribbon-like hyphae branching at 90°. The patient was managed by a multidisciplinary team consisting of the ear, nose, and throat, infectious diseases, dermatology, surgery, microbiology, and pathology departments. Management of the patient included debridement of the necrotic lesion and antibiotics and anti-fungal (fluconazole). Due to unavailability, the patient was not treated with amphotericin B. The patient died after 30 days of admission. This case highlights the importance of maintaining a high suspicion of invasive mucormycosis, even in immunocompetent children, when symptoms and signs are present, especially in resource-limited settings.
PubMed: 38450345
DOI: 10.52225/narra.v3i3.426 -
Journal Francais D'ophtalmologie Apr 2024Hyperbaric oxygen therapy consists of breathing 100% oxygen continuously or intermittently in a chamber at a pressure equal to or greater than 1.4 absolute atmospheres.... (Review)
Review
Hyperbaric oxygen therapy consists of breathing 100% oxygen continuously or intermittently in a chamber at a pressure equal to or greater than 1.4 absolute atmospheres. Indicated for the emergency treatment of carbon monoxide poisoning and other medical-surgical pathologies such as gas embolism or necrotizing soft-tissue infections, various studies have shown a beneficial effect of hyperbaric oxygen therapy in certain ocular pathologies, notably of microcirculatory origin, such as central retinal artery occlusion or macular edema linked to retinal vein occlusions. In addition, hyperbaric oxygen might represent an alternative treatment for ocular quinine toxicity and might also be useful as an adjuvant to surgery and antibiotics in cases of periorbital necrotizing fasciitis. On the other hand, oxygen in high concentrations has toxic ocular effects due to the production of reactive oxygen derivatives.
Topics: Humans; Hyperbaric Oxygenation; Microcirculation; Eye Diseases; Oxygen; Fasciitis, Necrotizing
PubMed: 38430627
DOI: 10.1016/j.jfo.2024.104107 -
Journal of Ayub Medical College,... 2023We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers,...
We present the case of a 30-year-old woman who presented with 8-month history of intermittent fever, joint pains with morning stiffness, recurrent oral ulcers, photosensitivity, weight loss and hair fall. For the last 2 months, she had developed a dry cough with progressive shortening of breath. On examination, a cachexic lady with malar hyperpigmentation, alopecia, pallor, nail dystrophy and erythema over her hands and feet were noted. There were multiple punched-out skin ulcers of variable size over legs, arms and abdomen usually round in shape with well-defined even wound margins and scant serous discharge. Musculoskeletal examination revealed synovitis of both elbows and a few metacarpophalangeal and proximal interphalangeal joints. Chest X-ray and HRCT showed bilateral ground-glass opacification. Anti-Nuclear Antibody (ANA) was positive, 1:320, homogenous nuclear pattern. Anti-Ro antibody was highly positive and serum complement (C3, C4) levels were reduced. She was diagnosed with Lupus Vasculitis and started on steroids, mycophenolate mofetil and hydroxychloroquine.
Topics: Humans; Female; Adult; Cellulitis; Impetigo; Pakistan; Eye Diseases; Mycophenolic Acid
PubMed: 38404102
DOI: 10.55519/JAMC-03-11426 -
Cureus Jan 2024A 24-year-old female with a history of intravenous heroin use presented with two weeks of chills, myalgias, and cough and was found to be in acute hypoxemic respiratory...
A 24-year-old female with a history of intravenous heroin use presented with two weeks of chills, myalgias, and cough and was found to be in acute hypoxemic respiratory failure. Subsequent workup revealed the presence of bilateral septic pulmonary emboli and tricuspid valve endocarditis. Several weeks into her hospitalization, she developed periorbital edema and laboratory testing revealed she had developed acute renal failure and nephrotic range proteinuria. A renal biopsy confirmed the diagnosis of IgA-dominant Staphylococcus-associated glomerulonephritis (IgA-SAGN). Early recognition of this newly recognized variant of glomerulonephritis is paramount, as improper treatment may lead to catastrophic consequences.
PubMed: 38380208
DOI: 10.7759/cureus.52680 -
Frontiers in Immunology 2024To assess the impact conferred by variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece. (Review)
Review
OBJECTIVE
To assess the impact conferred by variants on the clinical spectrum of patients with systemic autoinflammatory diseases (SAIDs) in Greece.
METHODS
Consecutive patients (n=167) with confirmed SAIDs who underwent screening by next generation sequencing (NGS) targeting 26 SAID-associated genes, and carried at least one gene variant, were retrospectively studied. The demographic, clinical and laboratory parameters were recorded.
RESULTS
In total, 24 rare variants in 23/167 patients (14%) were detected. Notably, 18 patients had at least one co-existing variant in 13 genes other than . Nine patients had juvenile- and 14 adult-onset disease. All patients presented with symptoms potentially induced by the variants. In particular, the candidate clinical diagnosis was Yao syndrome (YAOS) in 12 patients (7% of the whole SAID cohort). The clinical spectrum of patients with YAOS (mean episode duration 8 days) was fever (n=12/12), articular symptoms (n=8), gastrointestinal symptoms (n=7; abdominal pain/bloating in 7; diarrhea in 4; oral ulcers in 3), serositis (n=7), and rash (n=5), while the inflammatory markers were elevated in all but one patient. Most of these patients showed a poor response to nonsteroidal anti-inflammatory drugs (n=7/9), colchicine (n=6/8) and/or anti-TNF treatment (n=3/4), while a complete response was observed in 6/10 patients receiving steroids and 3/5 on anti-IL1 treatment. Another 8 patients were diagnosed with either FMF (n=6) or PFAPA syndrome (n=2) presenting with prominent diarrhea (n=7), oral ulcers (n=2), periorbital swelling and sicca-like symptoms (n=1), or maculopapular rash (n=1). One patient had a clinically undefined SAID, albeit characterized by oral ulcers and diarrhea. Finally, one patient presented with chronic relapsing urticaria with periorbital edema and inflammatory markers, and another one had a Crohn-like syndrome with good response to anti-IL-1 but refractory to anti-TNF treatment.
CONCLUSION
variants were detected in 1 out of 7 SAID patients and seem to have an impact on disease phenotype and treatment response. Further studies should validate combined molecular and clinical data to better understand these distinct nosological entities.
Topics: Adult; Animals; Humans; Hereditary Autoinflammatory Diseases; Retrospective Studies; Oral Ulcer; Simian Acquired Immunodeficiency Syndrome; Tumor Necrosis Factor Inhibitors; Diarrhea; Exanthema; Nod2 Signaling Adaptor Protein
PubMed: 38348033
DOI: 10.3389/fimmu.2024.1342668 -
Turkish Journal of Emergency Medicine 2024Mucormycosis is a progressive and life-threatening disease that has been increasingly reported in patients infected by coronavirus diseases 2019 (COVID-19). We describe...
Mucormycosis is a progressive and life-threatening disease that has been increasingly reported in patients infected by coronavirus diseases 2019 (COVID-19). We describe a case of rhino-orbital mucormycosis with central nervous system involvement resulting in bilateral blindness and intracranial extension in a patient with uncontrolled diabetes mellitus (DM) and mild COVID-19 infection. A 35-year-old obese male, recently diagnosed with DM, presented to the emergency department suffering from dizziness, headache, speech difficulty, and facial weakness. His glycosylated hemoglobin was 10.4% and his reverse transcriptase-polymerase chain reaction (PCR) test came positive for COVID-19. Ocular examination revealed left eye proptosis, ophthalmoplegia, and lid edema with no ocular movement. Imaging studies showed pansinusitis and periorbital and orbital cellulitis with intracranial involvement. Histopathology and biopsy examination confirmed mucormycosis. Medical management included glucose control and liposomal amphotericin B therapy. Septoplasty and functional endoscopic sinus surgery was performed as emergency procedures. The patient survived with bilateral blindness. In this case, we described the importance of considering mucormycosis in COVID-19 patients with uncontrolled diabetes, particularly those presenting with sinusitis, headache, and orbital edema symptoms. Despite intensive antifungal therapy and surgical intervention, it is a serious opportunistic fungal infection associated with long-term complications.
PubMed: 38343519
DOI: 10.4103/tjem.tjem_308_22 -
Proceedings (Baylor University. Medical... 2024Mucormycosis is an invasive fungal infection that can cause acute clinical decompensation and death. The literature demonstrates case fatality rates around 50% with...
More than meets the eye: rhino-orbital cerebral mucormycosis with diabetic ketoacidosis presenting as periorbital edema resulting in orbital exenteration and maxillectomy.
Mucormycosis is an invasive fungal infection that can cause acute clinical decompensation and death. The literature demonstrates case fatality rates around 50% with differential clinical courses contingent upon anatomical incursion. Rhino-orbital cerebral mucormycosis represents a rapidly hostile variant with poorer outcomes, warranting prompt recognition, workup, and intervention. It is seldom included in differential diagnoses in those with head and neck pathology within the inpatient setting as diagnostic parsimony and low prevalence lead this entity to be often overlooked. Given the acuity and risk factors involved, considering mucormycosis may be prudent during the assessment of hyperglycemic or immunodeficient patients exhibiting maxillofacial disease. When acquiring histories of presenting illness and performing physical examinations, assessment includes mindfulness of diabetes mellitus, craniofacial lesions, and alertness to clinical deterioration. Given the rising incidence of complicated diabetes mellitus in conjunction with a paucity of mucormycosis reports noting the orbit as the diagnostic harbinger, we report the case of a 59-year-old woman admitted to the critical care setting for diabetic ketoacidosis and altered mental status. Physical examination revealed a swollen orbit, later diagnosed as mucormycosis with associated sino-orbit involvement and cranial nerve deficits warranting urgent and extensive facial debridement.
PubMed: 38343486
DOI: 10.1080/08998280.2023.2298183