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Cureus Feb 2024Pemphigus vulgaris, a rare and life-threatening autoimmune disorder, presents with painful skin and mucosal lesions, leading to blistering sores attributed to...
Pemphigus vulgaris, a rare and life-threatening autoimmune disorder, presents with painful skin and mucosal lesions, leading to blistering sores attributed to acantholysis. This study delves into the clinical manifestations, risk factors, and diagnostic intricacies associated with pemphigus vulgaris, with a focus on a representative case highlighting the challenges in its recognition and management. We explore the case of a 60-year-old male with pemphigus vulgaris, whose initial presentation involved yellow-crusting lesions on the scalp progressing to non-pruritic lesions on the chest, neck, and inguinal areas. A multidisciplinary medical workup was conducted, encompassing serological tests, imaging, and consultations with infectious disease and dermatology specialists. The definitive diagnosis was established through histopathological examination of three 4-mm punch biopsies. The case underscores the polymorphic nature of pemphigus vulgaris, with diverse clinical presentations and diagnostic challenges. The positive Nikolsky sign on the chest and neck lesions, coupled with oral mucosal involvement observed during a routine dental procedure, exemplifies the complexity of its manifestations. Diagnostic intricacies involved negative results for infectious diseases, declined kidney function, and elevated inflammatory markers, necessitating a collaborative approach for accurate diagnosis. Pemphigus vulgaris demands a comprehensive understanding of its varied presentations and collaboration among medical specialties for accurate diagnosis and tailored management. Treatment involves systemic glucocorticoids and immunomodulators. The presented case underscores the need for continued research to enhance diagnostic accuracy and refine therapeutic interventions for this rare autoimmune disorder.
PubMed: 38505433
DOI: 10.7759/cureus.54408 -
Head and Neck Pathology Mar 2024Only limited cases have been reported about the clear cell variant of squamous cell carcinoma occurring in the oral cavity. The present study regards the case showing... (Review)
Review
Only limited cases have been reported about the clear cell variant of squamous cell carcinoma occurring in the oral cavity. The present study regards the case showing the histopathological features of both the clear cell and acantholytic variants of oral squamous cell carcinoma. A review of the literature has been done to understand the pathogenesis of those changes. Also, a hypothesis has been given that the clear cell changes could be the consequences of the cascades of the acantholytic process and not a separate entity. Therefore, more research is required to confirm this hypothesis and understand the prognosis of the lesion.
Topics: Humans; Carcinoma, Squamous Cell; Mouth Neoplasms; Squamous Cell Carcinoma of Head and Neck; Acantholysis; Head and Neck Neoplasms
PubMed: 38489075
DOI: 10.1007/s12105-024-01611-y -
Dermatology Online Journal Oct 2023Pemphigus foliaceus is a superficial blistering disorder characterized by erosions and scaling in a seborrheic distribution. The condition typically occurs in healthy...
Pemphigus foliaceus is a superficial blistering disorder characterized by erosions and scaling in a seborrheic distribution. The condition typically occurs in healthy individuals but issues arise from delayed diagnosis. Many cases remain undiagnosed or misdiagnosed due to the lack of awareness of the condition. With use of common diagnostic tools, pemphigus foliaceus can be easily identified and monitored. Histological analysis exhibits "chicken wire" patterning along keratinocytes in the upper epidermis, whereas immunofluorescence study displays subcorneal acantholysis. Pemphigus foliaceus is confirmed via ELISA studies revealing the presence of autoantibodies against desmoglein 1. Once correctly diagnosed, typically the condition is responsive to corticosteroid therapy. However in recalcitrant cases such as in ours, adjunctive immunosuppressive therapy with dapsone or rituximab may be indicated.
Topics: Male; Humans; Pemphigus; Autoantibodies; Epidermis; Rituximab; Keratinocytes; Desmoglein 1
PubMed: 38478647
DOI: 10.5070/D329562411 -
European Journal of Dermatology : EJD Dec 2023Actinic keratosis (AK) is the most common pre-malignant cutaneous lesion of the skin, often associated with field cancerization. Daylight photodynamic therapy (DL-PDT)...
Actinic keratosis (AK) is the most common pre-malignant cutaneous lesion of the skin, often associated with field cancerization. Daylight photodynamic therapy (DL-PDT) is used as treatment, showing good histological results. Reflectance confocal microscopy (RCM) may be useful as a non-invasive, real-time approach to monitor treatment, however, there is a lack of data on the correlation between RCM and histopathological findings in AK patients treated with DL-PDT. To correlate histological and RCM findings and evaluate the efficacy of DL-PDT in patients with AK and field cancerization treated with DL-PDT. Patients with field cancerization and a minimum of six AK lesions on the face were included in the study. A single session combining methyl aminolevulinate followed by two-hour daylight exposure of the face was performed. RCM and biopsy were performed before and after three months of the intervention to compare efficacy between patients using the Wilcoxon test, and concordance of the findings based on the different methods was analysed using the Kappa test. Twenty-four patients completed the study. An improvement in photodamage and a decrease in the number of AK lesions (45.3% reduction) was observed. Regression in atypia and dysplasia was observed via histopathology and RCM, however, there was poor agreement between the methods. No changes were observed after treatment for inflammation, fibroplasia and acantholysis. Concordance between histological and RCM findings was poor, suggesting that RCM cannot replace the histopathological examination, however, it may be used as an adjuvant test for follow-up of patients. Despite this, DL-PDT proved to be an effective method for treating AK.
Topics: Humans; Keratosis, Actinic; Photochemotherapy; Aminolevulinic Acid; Inflammation; Sunscreening Agents; Microscopy, Confocal; Photosensitizing Agents; Treatment Outcome
PubMed: 38465549
DOI: 10.1684/ejd.2023.4579 -
Acta Dermatovenerologica Croatica : ADC Dec 2023The mortality risk factors for Corona Virus Disease-19 (COVID-19) infection (caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)) include advanced...
The mortality risk factors for Corona Virus Disease-19 (COVID-19) infection (caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)) include advanced age, male sex, certain comorbidities, and immunosuppression (1). Pemphigus vulgaris is a rare mucocutaneous autoimmune disease with autoantibodies against desmosomal desmoglein-1 and desmoglein-3, resulting in acantholysis and blister formation. This epithelial barrier defect increases susceptibility to infections, which may lead to relapses (2). Additionally, therapy-associated immunosuppression can lead to severe infections. Corticosteroids are the mainstay therapy. For moderate and severe pemphigus, rituximab is recommended in first-line treatment along with other immunosuppressants, and it may also be added in refractory cases. It is a monoclonal antibody against CD20 with long-lasting B-cell depletion potency. Recovery of B-cell function may last from one to seven years. Consequently, patients receiving rituximab cannot produce enough COVID-19 specific plasma cells, leading to a severe course of COVID-19 (2). Shashidi-Dadras et al. reported five mild COVID-19 cases among 167 patients with pemphigus who had received rituximab one to five years earlier. The authors presumed rituximab use within five years increases COVID-19 susceptibility regardless the number of courses received (3). Among 48 patients with pemphigus treated with rituximab within five years, Uzuncakmak et al. reported one mild case of COVID-19 (in a patient who had received a single course seven months earlier) (4). In another study, high titers of SARS-CoV-2 antibodies and high counts of antibody-secreting cells were associated with severe COVID-19 (5), which may be the consequence of antibody-dependent enhancement (6). Mahmoudi et al. concluded that B-cells may not be necessary for recovery in COVID-19, but they may protect from reinfection (7). Considering these data, rituximab should be postponed during the pandemic (8). In exceptional cases, it may be applied with careful consideration of the risk-benefit ratio (2,4). Patients should be monitored for signs of COVID-19 before and during treatment. A 63-year-old woman with pemphigus vulgaris presented at our department with widespread skin lesions. Comorbidities included hypertension, hypothyroidism, and glaucoma. Diagnosis was established based on histology and direct and indirect immunofluorescent microscopy results. Both desmoglein-1 and desmoglein-3 autoantibodies were detectable by ELISA. The patient was initially treated with low-dose systemic methylprednisolone (8 mg/day), because glaucoma contraindicated a higher dose. Azathioprine was subsequently started (gradually increased from 0.6 to 2.5 mg/kg/day). Continuous mucocutaneous progression 4 weeks later led to the decision to add rituximab therapy. The patient was confirmed as SARS-CoV-2 negative and received 1000 mg 12 weeks after starting glucocorticoid treatment. Two weeks later, she developed fever and became SARS-CoV-2 positive, and therefore the second rituximab treatment had to be cancelled. The patient had fever for six weeks without any other complaints, hospitalization was not required, and immunosuppression was continued with 8 mg methylprednisolone and 2.5 mg/kg azathioprine. Two weeks after recovery, she was diagnosed with pulmonary embolism, but recovered completely. Pulmonary embolism is a relatively common complication of COVID-19 which may be triggered by inactivity, loss of body fluids due to fever, a hypercoagulable state, and direct toxic venous endothelial damage caused by the virus (9). At a follow-up 4 months later, minimal skin lesions and significantly decreased desmoglein-1 and desmoglein-3 titers were observed. Azathioprine and methylprednisolone therapy were continued, and a second dosage of rituximab was given 7 months from the first one without any side-effects. We conclude that rituximab is a highly effective therapy in pemphigus, but the risk-benefit ratio should be carefully considered during the COVID-19 pandemic. We have not observed irreversible or permanent consequences of its administration, but our patient had a potentially lethal complication, pulmonary embolism, which may be associated with a more severe COVID-19 course due to immunosuppression. Total recovery was observed despite COVID-19 shortly after the initiation of rituximab.
Topics: Female; Humans; Male; Middle Aged; Pemphigus; Rituximab; COVID-19; Azathioprine; Pandemics; SARS-CoV-2; Methylprednisolone; Autoantibodies; Glaucoma; Pulmonary Embolism; Desmogleins
PubMed: 38439728
DOI: No ID Found -
Dermatopathology (Basel, Switzerland) Feb 2024Galli-Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous... (Review)
Review
Galli-Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous macules, papules, and reticulate hyperpigmentation in flexural areas. A distinct atypical variant exists, which features brown macules predominantly on the trunk, lower limbs, and extremities, with a notable absence of the hallmark reticulated hyperpigmentation in flexural areas. This review includes a detailed literature search and examines cases since GGD's first description in 1982. It aims to synthesize the current knowledge on GGD, covering its etiology, clinical presentation, histopathology, diagnosis, and treatment. A significant aspect of this review is the exploration of the genetic, histopathological, and clinical parallels between GGD and Dowling-Degos disease (DDD), which is another rare autosomal dominant genodermatosis, particularly focusing on their shared mutations in the and genes. This supports the hypothesis that GGD and DDD may be different phenotypic expressions of the same pathological condition, although they have traditionally been recognized as separate entities, with suprabasal acantholysis being a distinctive feature of GGD. Lastly, this review discusses the existing treatment approaches, underscoring the absence of established guidelines and the limited effectiveness of various treatments.
PubMed: 38390850
DOI: 10.3390/dermatopathology11010008 -
Frontiers in Immunology 2024[This corrects the article DOI: 10.3389/fimmu.2023.1193032.].
[This corrects the article DOI: 10.3389/fimmu.2023.1193032.].
PubMed: 38322255
DOI: 10.3389/fimmu.2024.1331003 -
Journal Der Deutschen Dermatologischen... Feb 2024
Topics: Humans; Tumor Necrosis Factor-alpha; Keratosis; Skin Abnormalities; Interleukin-23; Acantholysis
PubMed: 38200563
DOI: 10.1111/ddg.15293 -
International Journal of Surgery Case... Jan 2024Pemphigus Vulgaris (PV) is a low incidence autoimmune mucocutaneous bullous disease, in which pathogenic antibodies are directed against the keratinocyte cell surface....
INTRODUCTION AND IMPORTANCE
Pemphigus Vulgaris (PV) is a low incidence autoimmune mucocutaneous bullous disease, in which pathogenic antibodies are directed against the keratinocyte cell surface. Although anal involvement is unusual, correlations between its appearance and disease severity have been recently reported.
CASE PRESENTATION
A 42-year-old male presented with an anal fissure and a year of recurrent oral and pharyngeal aphtha. A chemical sphincterotomy with botulinum toxin plus fissurectomy was performed. 3 years later an upper eyelid injury raised suspicion of pemphigus vulgaris (PV), tested negative for specific antibodies. A couple years later, an anal fissure, and suspected Crohn's disease, led to a second intervention. Surgical analysis unveiled characteristics indicative of a vegetating variant of PV.
CLINICAL DISCUSSION
Anal involvement in PV varies in prevalence, with studies reporting rates between 2 % and 27.98 %. This manifestation often accompanies late disease stages and may indicate severity, notably in association with oral lesions. Patients might not readily discuss anal symptoms, leading to potential underreporting. Anal PV is linked to other lesions (ocular, nasal, genital) and the severity of oral PV. Even when other sites are in remission, anal recurrence can occur. Early recognition and follow-up are crucial, highlighting the need for routine anal examination and confirmatory diagnostics.
CONCLUSION
PV lesions can present on the skin or mucosa, although oral lesions are the most common site of initial presentation. Anal PV is a diagnostic challenge, and this case illustrates the importance of a careful evaluation.
PubMed: 38150999
DOI: 10.1016/j.ijscr.2023.109185