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Journal of Clinical Immunology Jun 2024Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation...
PURPOSE
Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation causing MSN deficiency and a novel phenotype.
METHODS
Clinical and immunological data were collected. Whole-exome sequencing was performed to identify gene mutations. MSN protein expression and T cell proliferation and activation were determined by flow cytometry. Cell migration was confirmed with a Transwell assay. Autoantibody levels were analyzed using antigen microarrays.
RESULTS
The patient was a 10-year-old boy who presented with recurrent fever, oral ulcers and dermatomyositis-like symptoms, such as periorbital edema, facial swelling, elevated creatine kinase levels, and abnormal electromyography and muscle biopsy results. Epstein-Barr virus (EBV) DNA was detected in the serum, cells and tissues of this patient. He further developed nasal-type NK/T-cell lymphoma. A novel hemizygous mutation (c.68 A > G, p.N23S) in the MSN gene was found. The immunological phenotype of this patient included persistent decreases in T and B lymphocyte counts but normal immunoglobulin IgG levels. The patient had attenuated MSN protein expression and impaired T-cell proliferation and migration. The proportions of Tfh cells and CD21 B cells in the patient were higher than those in the controls. Moreover, 82 IgG and 102 IgM autoantibodies were more abundant in the patient than in the healthy controls.
CONCLUSIONS
The novel mutation N23S is pathogenic and leads to a severe clinical phenotype. EBV infection, tumor, and dermatomyositis-like autoimmune symptoms may be associated with MSN deficiency, further expanding the understanding of the disease.
Topics: Humans; Male; Epstein-Barr Virus Infections; Dermatomyositis; Child; Microfilament Proteins; Mutation; Herpesvirus 4, Human; Exome Sequencing; Immunologic Deficiency Syndromes; Autoantibodies; Phenotype; T-Lymphocytes
PubMed: 38922539
DOI: 10.1007/s10875-024-01755-0 -
Cureus May 2024Varicella zoster virus (VZV) infection, also commonly known as chickenpox, is a communicable disease most often contracted in childhood via contact, airborne, or droplet...
Varicella zoster virus (VZV) infection, also commonly known as chickenpox, is a communicable disease most often contracted in childhood via contact, airborne, or droplet transmission. After about a two-week incubation period, patients can experience a prodromal phase, which includes a pruritic vesicular blistering rash with associated constitutional symptoms such as fever, headache, malaise, muscle aches, fatigue, and sore throat. Symptoms are often self-limiting and only require supportive care and observation. We report a case of a 54-year-old female who presented with an unusual background history and was found to have a rare manifestation of herpes zoster virus, presenting as herpes zoster ophthalmicus (HZO).
PubMed: 38883095
DOI: 10.7759/cureus.60453 -
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 -
Current Opinion in Ophthalmology Jun 2024To highlight the clinical features of mpox with an emphasis on ocular manifestations and to review treatment options for this re-emerging infectious disease.
PURPOSE OF REVIEW
To highlight the clinical features of mpox with an emphasis on ocular manifestations and to review treatment options for this re-emerging infectious disease.
RECENT FINDINGS
Ocular involvement of mpox varies by clade. The most recent 2022 outbreak appears to be associated with fewer conjunctivitis cases compared to previous outbreaks. However, the ocular findings occurring during this newly emerging clade can be visually threatening and include cases of keratitis, rapidly progressing scleritis, and necrotizing periorbital rashes.
SUMMARY
Ocular mpox is an important clinical feature of systemic mpox virus (MPXV) infection. Heightened clinical suspicion allows for a timely diagnosis and the initiation of antiviral treatment, when appropriate. Randomized clinical trials for mpox systemic and ocular treatment efficacy are lacking. Prior clinical experience with smallpox and in-vitro mpox data support the use of systemic antivirals such as tecovirimat, cidofovir, brincidofovir and topical use of trifluridine in ocular mpox management, though treatment-resistant infection can occur and portend a poor prognosis.
PubMed: 38847744
DOI: 10.1097/ICU.0000000000001066 -
Cureus May 2024Periorbital necrotizing fasciitis (NF) is a devastating bacterial infection associated with irreversible inflammatory destruction of soft tissues. Outcomes include...
Periorbital necrotizing fasciitis (NF) is a devastating bacterial infection associated with irreversible inflammatory destruction of soft tissues. Outcomes include disfigurement, vision loss, septic shock, and death within hours to days. We describe two cases of periorbital NF that presented to our unit within a three-month period. We aim to highlight the key clinical features of periorbital NF, demonstrate the rapid progression of the disease, and the need for prompt identification and decisive intervention. Both patients presented with fever and left-sided periorbital swelling and showed rapid progression of swelling and gangrenous changes to the periorbital skin with worsening proptosis. They were treated with broad-spectrum intravenous antibiotics and underwent emergency surgical debridement of necrotic tissue followed by reconstruction. We propose a formal protocol that we recommend to aid the diagnosis and management of periorbital NF in an acute setting.
PubMed: 38826916
DOI: 10.7759/cureus.59501 -
The Journal of Craniofacial Surgery May 2024This study aimed to investigate the clinical characteristics of patients with complications following inadequate primary orbital fracture repair and to evaluate surgical...
OBJECTIVE
This study aimed to investigate the clinical characteristics of patients with complications following inadequate primary orbital fracture repair and to evaluate surgical outcomes of secondary revision orbital reconstruction.
METHODS
The authors retrospectively reviewed data from 41 patients who underwent revision orbital reconstruction by a single surgeon following complications from primary orbital fracture repair performed elsewhere. Clinical characteristics, including enophthalmos, exophthalmos, diplopia, ocular motility limitation, epiphora, infraorbital hypoesthesia, infection, eyelid malposition, lagophthalmos, hypoglobus, and compressive optic neuropathy, were assessed. Surgical outcomes of revision surgery were evaluated to determine improvements in clinical deficits and postoperative patient satisfaction.
RESULTS
The most common postoperative complications of primary orbital fracture repair were enophthalmos (n=20/41) and diplopia (n=20/41). The mean time between primary and revision surgeries was 67.2 months (range: 1-276 mo). Revision surgery significantly improved enophthalmos, diplopia (Hess area ratio), epiphora (Munk score), periorbital pain, and exophthalmos (P=0.003, P=0.001, P<0.001, P<0.001, and P=0.007, respectively) compared to the pre-revision state. In addition, 6 patients experienced improved infraorbital hypoesthesia. Among the 41 patients, 23 were very satisfied, 17 were satisfied, and 1 was neutral after revision orbital reconstruction.
CONCLUSIONS
Our study highlights the positive impact of revision orbital reconstruction in addressing complications from inadequate primary orbital fracture repair. Surgeons should consider revision surgery to address clinical deficits following prior surgery, especially when anatomic abnormalities are evident in imaging studies, regardless of the time lapse since the initial surgery or concerns about tissue fibrosis and fat atrophy.
PubMed: 38819131
DOI: 10.1097/SCS.0000000000010378 -
Clinical Case Reports Jun 2024Immunosuppression from B-acute lymphoblastic leukemia (B-ALL) chemotherapy and a preceding COVID-19 infection may predispose patients to rare complications such as...
Co-occurrence of rhino-orbital mucormycosis and acute lymphoblastic leukemia post-COVID-19 infection in a young adolescent male: A case report from a low middle-income country.
KEY CLINICAL MESSAGE
Immunosuppression from B-acute lymphoblastic leukemia (B-ALL) chemotherapy and a preceding COVID-19 infection may predispose patients to rare complications such as rhino-orbital mucormycosis. Hence, a high index of suspicion should be maintained by physicians (and oncologists) if patients undergoing B-ALL treatment present with orofacial symptoms and ophthalmological manifestations such as peri-orbital swelling, ophthalmoplegia, and loss of vision, suggestive of infection.
ABSTRACT
Mucormycosis is a severe fungal infection that poses significant mortality and morbidity risks, particularly in immunocompromised individuals. We present a rare case of a 16-year-old patient with rhino-orbital mucormycosis following B-acute lymphoblastic leukemia (B-ALL) treatment and concurrent COVID-19 infection. We describe the clinical presentation, diagnosis, treatment, and outcome of this patient, and discuss the possible interactions and implications of these three conditions. A young 16-year-old male patient without significant clinical history was admitted with complaints of low-grade intermittent fever, fatigue, malaise, restlessness, and unexplained weight loss for the past 2 months. A bone marrow biopsy confirmed the diagnosis of B-ALL. Following the diagnosis of B-ALL, the patient underwent initiation of chemotherapy. Following the initial two cycles of chemotherapy, the patient experienced fever and cough and tested positive for COVID-19 infection. Nearly a week later, the patient presented to the chemotherapy emergency department with a clinical picture characterized by a fever up to 39°C associated with left facial swelling, severe headache, purulent rhinorrhea, and foreign body sensation in the ipsilateral nostril. The following day, erythema and left eyelid edema were observed, with ocular opening limitation. The diagnosis was confirmed based on the positive result of polymerase chain reaction for left-sided mucormycosis. Initial administration of liposomal and lipid amphotericin B at 1-1.5 mg/kg/d doses for 4-6 weeks was followed by surgical debridement of necrotic tissue on the left side of the face and nose. Subsequent ophthalmological examinations showed normal conditions of the left eye. The case underscores the importance of heightened clinical suspicion, early diagnosis through imaging and molecular techniques, aggressive multimodal therapy, and close interdisciplinary collaboration for improved outcomes in such rare and challenging clinical scenarios.
PubMed: 38799526
DOI: 10.1002/ccr3.8972 -
International Journal of Ophthalmology 2024To determine the frequency of patients' vision survival and prognostic factors and evaluate clinical features in rhino-orbital mucormycosis.
AIM
To determine the frequency of patients' vision survival and prognostic factors and evaluate clinical features in rhino-orbital mucormycosis.
METHODS
Forty-three eyes of 43 patients followed up with orbital mucormycosis infections were included in the study. Demographic characteristics of the patients, symptoms at admission, ophthalmologic and non-ophthalmologic examination findings, clinical findings during follow-up, medical and surgical procedures, and complications were recorded. Patient survival was determined by assessing the incidence of mortality, and vision survival was defined as achieving a final visual acuity of at least light perception.
RESULTS
Twenty-seven (62.8%) patients were male, and 16 (37.2%) were female. When the underlying disease status of the patients was examined, it was observed that all patients had an underlying disease and diabetes constituted the majority (65.2%). Periorbital swelling (69.8%) and ophthalmoplegia (53.5%) were the most common symptoms and findings at the admission of patients with mucormycosis infection. The disease resulted in death in 22 (51.2%) patients. The presence of fever and shorter duration of antifungal therapy were associated with lower patient survival. Exenteration surgery was not found to be associated with the survival of the patients. Frozen eye, loss of pupillary light reflex, and development of central retinal artery occlusion were associated with lower vision survival.
CONCLUSION
This study presents one of the most extensive patient series in the literature on rhino-orbital mucormycosis. Knowing the patients' symptoms at the time of admission and the clinical findings during the infection process will increase awareness about the disease.
PubMed: 38766351
DOI: 10.18240/ijo.2024.05.17 -
The Journal of International Medical... May 2024Fungal orbital cellulitis is usually seen in immunocompromised individuals, and opportunistic pathogens are the main etiology. We herein report a case of fungal orbital...
Fungal orbital cellulitis is usually seen in immunocompromised individuals, and opportunistic pathogens are the main etiology. We herein report a case of fungal orbital cellulitis due to in a patient with no history of trauma. A 48-year-old man presented to the emergency room of our hospital with a 2-week history of periorbital swelling, conjunctival hyperemia, and chemosis of his right eye. The visual acuity of his right eye was 6/20, and the intraocular pressure was 44 mmHg. The main clinical findings were proptosis of the right ocular globe with conjunctival hyperemia and a palpable infratemporal orbital mass. Laboratory testing failed to detect the presence of a pathogenic infection, and the lesions on computed tomography images resembled those of a malignant tumor of the orbit. The diagnosis was finally confirmed by postoperative pathological examination, and the patient responded favorably to debridement combined with antifungal therapy. Histopathological examination may help to reveal the nature of this disease. Surgical removal of inflammatory lesions can serve as an important diagnostic and treatment method for fungal orbital cellulitis.
Topics: Humans; Male; Middle Aged; Aspergillosis; Immunocompromised Host; Tomography, X-Ray Computed; Antifungal Agents; Orbital Cellulitis; Debridement; Eye Infections, Fungal
PubMed: 38757522
DOI: 10.1177/03000605241239857 -
BMJ Case Reports May 2024A girl in early childhood with no significant medical history developed left eye periorbital oedema and erythema. She was treated with intravenous antibiotics for...
A girl in early childhood with no significant medical history developed left eye periorbital oedema and erythema. She was treated with intravenous antibiotics for suspected severe periorbital cellulitis. Despite treatment, the patient's cellulitis progressed into necrotising fasciitis, and she was transferred for ophthalmology review and imaging. A CT scan and eye swab culture-confirmed periorbital cellulitis. Incidentally, pathology revealed significant pancytopenia suspicious of leukaemia. The patient underwent bone marrow biopsy and was diagnosed with B-cell acute lymphoblastic leukaemia (ALL). A multidisciplinary specialist assessment revealed no ocular evidence of leukaemia and no intraocular concerns. In medical literature, it is consistently found that cases of ALL initially manifesting as proptosis or eyelid oedema are invariably due to neoplastic infiltration. This case represents unique documentation where periorbital cellulitis is the initial presentation of B-cell ALL, underscoring the necessity to consider periorbital cellulitis as a possible differential diagnosis in ophthalmic manifestations of ALL.
Topics: Humans; Female; Orbital Cellulitis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Diagnosis, Differential; Anti-Bacterial Agents; Cellulitis; Staphylococcal Infections; Staphylococcus aureus; Tomography, X-Ray Computed
PubMed: 38749518
DOI: 10.1136/bcr-2023-259087