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International Journal of Ophthalmology 2024
PubMed: 38721503
DOI: 10.18240/ijo.2024.03.25 -
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 -
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 -
The American Journal of Case Reports Jun 2024BACKGROUND Morbihan disease, also known as Morbihan syndrome, is a rare medical condition characterized by chronic facial edema predominantly affecting the upper...
BACKGROUND Morbihan disease, also known as Morbihan syndrome, is a rare medical condition characterized by chronic facial edema predominantly affecting the upper two-thirds of the face. Despite being recognized in medical literature for decades, its true prevalence and underlying pathophysiology remain poorly understood. Various hypotheses, including impaired lymphatic drainage, abnormal vascular permeability, immune dysregulation, and inflammatory reactions to demodex infestation, have been proposed to explain the etiology. CASE REPORT We present a case of a 61-year-old man with organized periocular edema of the upper third of the face, ultimately leading to Morbihan disease diagnosis. The patient underwent a midface lift, allowing for tissue retrieval for histopathological examination of the eyelid edematous skin, which revealed chronic inflammation, ectasia of small lymphatic vessels, and features of demodex intrafollicular localization. These findings were not specific, but consistent with the diagnostic hypothesis. The patient was referred to a rheumatologist for further evaluation and treatment. He did not respond well to systemic corticosteroids and immunosuppressive therapy. Rather, this resulted in extension of the edema to the upper eyelid. The patient opted not to undergo further treatment. CONCLUSIONS Morbihan disease is often misdiagnosed due to its rarity and overlapping clinical features with other facial conditions. Its management is challenging and can require a combination of medical and surgical interventions. Systemic corticosteroids, immunosuppressive agents, and topical treatments have had varying success. Surgical procedures, such as blepharoplasty or laser therapy, can be considered in severe cases. Early recognition and appropriate management are crucial to improving patient outcomes and quality of life.
Topics: Humans; Male; Middle Aged; Edema; Mite Infestations; Eyelid Diseases; Animals; Inflammation; Chronic Disease
PubMed: 38872283
DOI: 10.12659/AJCR.943421 -
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