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Microscopic polyangiitis (MPA) is a form of necrotizing vasculitis affecting the small vessels. Our study is the first study with the objective of describing the difference in clinical presentation of MPA and response to treatment at 6 months based on the age of disease onset. All patients seen at a tertiary vasculitis clinic between 2015 and 2023 with a diagnosis of MPA were included. Patients were divided into an elderly group (age > = 65 years) and a younger group (age < 65). Comparative analysis was conducted to characterize differences amongst the elderly and younger patients, including differences in organ involvement and clinical presentation, Birmingham Vasculitis Activity Score (BVAS) scores, Vasculitis Damage Index(VDI) scores, and response to treatment at 6 months. Thirty-one patients were included in our study. Younger MPA patients (n = 18) with mean age at diagnosis of 53.17 years were compared with older MPA patients(n = 13) with mean age at diagnosis of 76.08 years. The younger patients had statistically significant higher BVAS scores (p = 0.009), along with higher incidence of renal (p = 0.028), pulmonary (p = 0.0069), and cutaneous (p = 0.026) manifestations at disease onset. Furthermore, amongst the younger population, there was noted statistically significant clinical improvement at 6 months following treatment induction, particularly in the domains of general symptoms (p = 0.011), MSK (p = 0.019), cutaneous (p = 0.011), and pulmonary symptoms (p = 0.04). In contrast, the elderly population presented with a predominant of non-specific constitutional symptoms, with statistically significant improvement in the domain of non-specific general symptoms at 6 months (p = 0.00008). All MPA patients responded well to treatment, with statistically significant improvement amongst younger patients (p = 0.0032), but no statistically significant improvement amongst elderly patients (p = 0.67). Our study findings concluded that MPA's clinical presentation differed by age group. Younger patients had more aggressive vasculitis disease presentation with better response to treatments, whereas, elderly patients had less severe disease presentation with predominant of general symptoms at disease onset. Key Points • MPA clinical presentation differed by age at disease onset. Younger patients presented with more aggressive and classic vasculitis-like presentations, with multi-system organ involvement and statistically significant higher incidence of renal, pulmonary, and cutaneous manifestations. In contrast, elderly patients had a predominant of constitutional and non-specific symptoms with often delayed diagnosis. • All MPA patients responded well to treatment. Amongst the younger population, there was statistically significant improvement in BVAS scores after treatment induction at 6 months; however, there was no statistically significant improvement of BVAS scores in the elderly population. • Future studies are required to further understand the difference in the clinical presentation of MPA based on the age at disease onset, and the implication on disease diagnosis and management. [ABSTRACT FROM AUTHOR]

Objective: To identify the risk factors for relapse of idiopathic inflammatory myopathies (IIMs). Methods: Patients who were newly diagnosed with IIMs and underwent muscle biopsy between 2000 and 2017 at Asan Medical Center were retrospectively reviewed. The relapse of IIMs was defined as the recurrence of muscle or cutaneous manifestations with a ≥50% increase in glucocorticoid dosage after reaching the low-dose glucocorticoid phase with clinically significant improvement. The factors associated with the relapse of IIMs were investigated by Cox proportional hazards analysis. Results: Of 105 patients with IIMs, relapse was observed in 65 patients (62%). The titer of antinuclear antibody (ANA) was higher in the relapse group than in the non-relapse group (P = 0.033). Multivariable analysis showed that the relapse of IIMs was significantly associated with histopathologic features consistent with IIMs (hazard ratio [HR], 1.69; 95% confidence interval [CI], 1.01–2.83, P = 0.045) and the use of immunosuppressants before relapse (HR, 0.50; 95% CI, 0.29–0.86, P = 0.013). Doubling of ANA titer was also associated with relapse, albeit without statistical significance (HR, 1.13; 95% CI, 1.00–1.27, P = 0.052). Conclusion: In patients with IIMs, the use of immunosuppressants had a significant negative association with relapse. Administering immunosuppressants from the early period during the initial glucocorticoid tapering phase may be useful in reducing the risk of relapse in patients with IIMs. Key Points • Since idiopathic inflammatory myopathies (IIMs) have a low prevalence, it is poorly understood which factors are associated with the relapse of IIMs. • In this study, about two-thirds of 105 patients with IIMs experienced a relapse of IIMs. • The risk of relapse in patients with IIMs was negatively associated with the use of immunosuppressants during glucocorticoid tapering and low-dose glucocorticoid phase. • Even in less severe cases, the use of immunosuppressants might be a good option for the management of IIMs. [ABSTRACT FROM AUTHOR]

Dogs are the primary reservoirs of Leishmania infantum (L. infantum), but Leishmania tropica (L. tropica) infection is also possible in dogs and can transmitted to humans. The southeast of Iran experiences a high prevalence of canine leishmaniasis (CanL), and veterinarians frequently encounter symptomatic cases. Therefore, from December 2017 to November 2022, the present case series was designed to assess the prevalence of CanL in owned dogs with cutaneous manifestations resembling CanL. A total of 500 owned dogs with dermal lesions from two endemic cities, Zabol and Kerman, were enrolled. Impression smears from skin lesions and popliteal lymph nodes were prepared from all cases, whereas blood samples were gathered from amastigote-positive dogs for serological and molecular surveys. Commercial ELISA was done on sera samples, and two-step nested PCR was used on extracted DNA to amplify variable fragments of the Leishmania species' kinetoplast DNA (kDNA). Leishman bodies were microscopically detected in 7.2% (36/500) of dermal smears. Of the 360 owned dogs from Zabol, 2 have been diagnosed with L. tropica, and 10 have been diagnosed with L. infantum. Out of 140 owned dogs from Kerman, 8 were identified with L. tropica infection, and 16 were infected with L. infantum. Molecular results revealed the presence of 750 full dual-band bases related to the L. tropica species in 10/36 (27.7%) cases, which showed a considerable increase in canine cutaneous leishmaniosis compared with previous studies in southeastern Iran. The noticeable prevalence of L. tropica in owned dogs indicated that the dog's role in cutaneous leishmaniosis should be re-evaluated as a possible animal reservoir in endemic areas. [ABSTRACT FROM AUTHOR]

Background: Pemphigus is a rare autoimmune disease characterized by the formation of blisters on the skin and mucous membranes, caused by autoantibodies against desmoglein, a key protein in cell adhesion. This study aims to compare demographic and clinical criteria between male and female patients with pemphigus referred to a referral hospital, utilizing data from the pemphigus diseases registry. Method: This retrospective cross‐sectional analysis focused on several key aspects age at disease onset, severity (measured by the Pemphigus Disease Area Index [PDAI]), types of pemphigus, duration of disease, and diagnostic criteria including the presence of antidesmoglein antibodies and findings from direct immunofluorescence (DIF). By examining these variables among a cohort selected based on their diagnosis of pemphigus, the study aimed to identify significant gender differences in disease manifestation, diagnosis, and progression. This approach is crucial for tailoring more effective gender‐specific management and treatment strategies for this rare autoimmune condition. Results: In a comprehensive analysis of 1218 pemphigus patients in the year 2021 from the hospital's registry, comprising 543 males (44.6%) and 675 females (55.4%), significant gender differences were identified in 9 out of 44 variables examined. The study revealed that males had a higher age at disease onset, more frequent clinical manifestations in the head, neck, and trunk areas, and greater severity of disease as measured by the PDAI score compared to females. Conversely, females exhibited higher instances of mucosal manifestations and a higher PDAI score for mucosal erosion blister of the lower gingiva. No significant gender differences were found in 21 variables, including the overall age of patients, specific clinical manifestations across various mucous membranes, types of pemphigus, and PDAI scores for mucosal erosions in particular locations, indicating a nuanced gender impact on the presentation and severity of pemphigus that necessitates tailored clinical approaches. Conclusion: The study highlights significant gender differences in the presentation and severity of pemphigus, underscoring the importance of gender‐specific approaches in the diagnosis and management of this condition. The findings contribute valuable insights into the complex nature of pemphigus and underline the necessity for further research to understand the underlying mechanisms driving these differences. [ABSTRACT FROM AUTHOR]

The dermatological manifestations of the coronavirus cause severe acute respiratory syndrome. The current study investigates the morphological and histopathological relationship between the emergence of skin lesions and the severity of COVID‐19 across the course of the disease via a cross‐sectional study. There were skin lesions (maculopapular rash, vesiculobullous lesions, urticarial lesions, cutaneous thromboembolic "CT," and erythema multiforme‐like lesions "EM‐like") in confirmed COVID‐19 instances. A total of 150 patients of both sexes were evaluated morphologically and were classified as early (44% of the total) or late based on the emergence of respiratory symptoms (one week before or two weeks after, respectively). The early and late diagnostic groups represented 44% and 56% of the total patients, respectively. Patients with no skin lesion and one skin lesion showed a significant correlation with disease timeline early and late stages (X2 = 22.38, P < 0.001; X2 = 4.432, P < 0.001, respectively). CT and EM‐like were correlated with the disease severity, X2 = 50.51, P < 0.001; X2 = 19.186, P ≤ 0.001, respectively. In conclusion, our data suggested that the onset of dermatological lesions that developed during the COVID‐19 pandemic may be a useful diagnostic and prognostic tool for COVID‐19 severity. Therefore, a thorough examination of the skin may save time and bring physicians to an accurate diagnosis and, as a result, prompt treatment. [ABSTRACT FROM AUTHOR]

Introduction: The Utrecht Symptom Diary (USD) is a validated Dutch patient-reported outcome measurement (PROM) tool - based on the Edmonton Symptom Assessment System - to assess and monitor symptoms in cancer patients. The USD contains 11 items concerning frequently occurring symptoms in cancer patients (pain, sleeping problems, dry mouth, dysphagia, lack of appetite, abnormal stool, nausea, shortness of breath, fatigue, anxiety and depressed mood) and an item on overall well-being. For the outpatient USD 11 items concerning frequently occurring signs and symptoms in patients receiving chemotherapy and/or targeted therapy were added to the USD: taste alteration, oral pain, weight loss, diarrhoea, hair changes, skin problems, nail problems, eye problems, tingling, concentration problems and problems with sexuality. This current study aimed to evaluate the 11 added items on this treatment specific outpatient USD in cancer patients receiving intravenous chemotherapy and/or targeted therapy. Methods: Observational longitudinal retrospective cohort study including all adult outpatients with cancer receiving intravenous chemotherapy and/or targeted therapy in an academic hospital in the Netherlands who completed at least one outpatient USD as part of routine care (2012–2021). Relevance, comprehensiveness as well as criterion and construct validity were assessed. Results: 1733 patients who completed ≥ 1 outpatient USD during intravenous chemotherapy and/or targeted therapy were included for analysis. Relevance as well as comprehensiveness of the items on the outpatient USD in this patient population was shown. Criterion validation was demonstrated for all added items of the outpatient USD – except for the item on oral pain. An additional analysis showed that mouth problems were detected with both outpatient USD items oral pain and dry mouth. Construct validity was demonstrated for the items hair changes and skin and nail problems. Construct validity on eye problems was not tested due to the low number of paired outpatient USDs. Conclusions: The treatment specific outpatient USD is a validated PROM in outpatients with cancer receiving intravenous chemotherapy and/or targeted therapy. Considering its validity in this broad group of patients, we think the treatment-specific outpatient USD is widely applicable. In addition to providing tailored supportive symptom care, the USD-data can be used to increase knowledge about symptom burden in daily practice in this population. [ABSTRACT FROM AUTHOR]

Background: Sweet syndrome (acute febrile neutrophilic dermatosis) is an uncommon inflammatory disorder characterized by the abrupt appearance of painful, edematous, and erythematous papules, plaques, or nodules on the skin. There are various subtypes, such as classical, drug-induced, malignancy-associated, and the less common variant giant cellulitis-like Sweet syndrome. This case is unique due to its presentation of the giant cellulitis-like variant of Sweet syndrome in a patient from Ethiopia. The unusual distribution of the skin lesions and the initial lack of response to antibiotics make this case particularly noteworthy. It underscores the importance of considering Sweet syndrome in differential diagnoses when faced with atypical skin manifestations and ineffective antibiotic treatment. This contribution adds valuable insights to the scientific literature by highlighting the need for heightened awareness of this rare variant and improving diagnostic accuracy in similar clinical scenarios. Case presentation: A 60-year-old Ethiopian male patient who presented to the accident and emergency department with a 5-day history of fever, chills, sweating, and rigor accompanied by a reddish skin color change around the anterolateral region of the right chest wall. On physical examination, there were erythematous, indurated tender plaques with ill-defined borders over the right antero- and posterolateral chest wall with extension to the lateral part of the right neck and medial aspect of the right arm. Subsequently, the patient was started on antibiotics, but there was a suboptimal response. Skin biopsy revealed features suggestive of giant cellulitis-like Sweet syndrome. He was then started on steroids, which significantly improved his symptoms. Conclusion: A cautious stance is essential when identifying Sweet syndrome in individuals displaying erythematous plaque-like skin lesions in atypical areas of the body with uneven distribution. Such presentation may signal Sweet syndrome rather than a common infection. If conventional treatments, such as antibiotics, fail to resolve symptoms, consider Sweet syndrome as a potential diagnosis. This approach ensures timely and appropriate treatment, preventing treatment delay and misdiagnosis. [ABSTRACT FROM AUTHOR]

Distinguishing key morphologic features and understanding the pathophysiology of common cutaneous manifestations of hematologic disorders is essential to ensure prompt and appropriate treatment. In fact, classic cutaneous signs may provide the first clue to the diagnosis of an underlying hematologic disease. Disorders of coagulation, vascular abnormalities, or cutaneous infiltration and deposition are responsible for the underlying pathophysiology of cutaneous manifestations in the majority of cases. Hematologists often feel ill-equipped in identifying morphologic changes in the skin. Thus, the purpose of this review is to provide a comprehensive overview of classic cutaneous manifestations and diagnostic considerations of the associated hematologic conditions. Though there is a specific focus on non-malignant disorders, those straddling the spectrum of malignancy are also discussed. In many disease states, the skin may serve as an important marker of an emerging hematologic disorder, so close collaboration and multidisciplinary input remain essential to provide optimal and timely care for these patients. [ABSTRACT FROM AUTHOR]

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), presenting diagnostic challenges due to its rarity and its difficult clinical differentiation from other causes of CS. Here, we report the case of a 22-year-old female who developed classical symptoms of hypercortisolism including progressive weight gain, moon facies, and various skin manifestations. Despite biochemical screening confirming ACTH-independent CS, imaging modalities including computed tomography and magnetic resonance imaging showed normal adrenal gland morphology, complicating the localization of cortisol hypersecretion. Subsequent nuclear imaging methods were not indicative of ectopic cortisol production until adrenal vein sampling (AVS) conclusively identified the adrenal glands as the only possible source of cortisol hypersecretion. Eventually, bilateral adrenalectomy led to a significant improvement in symptoms. Pathological examination confirmed the diagnosis of PPNAD, and genetic testing revealed a mutation in the PRKAR1A gene associated with the Carney complex. This case highlights the importance of considering rare etiologies in hypercortisolism diagnosis and describes their challenging diagnostic workup and the utility of AVS in localizing cortisol hypersecretion in PPNAD patients. [ABSTRACT FROM AUTHOR]

Background: Dermatomyositis (DM) is a rare and severely debilitating autoimmune disease that can affect children and adults; however, there is little understanding of the patient-reported experience and uncertainty around validated clinical outcomes assessments (COAs) that could measure changes in the condition during clinical trials of new treatments. Objectives: The aim of this study was to understand the patient experience of DM, with a focus on its cutaneous manifestations, to describe the patient experience and determine the suitability of existing COA measures. Methods: Adult (≥ 18 years) patients (N = 28) with severe active cutaneous manifestations of DM were interviewed. In the 90-min interviews, open-ended questions and probes were used to elicit descriptions of key clinical manifestations and patients' experiences of DM, including the symptoms and impacts on their daily lives and wellbeing. Results: Patients reported 13 different skin manifestations of DM. The most common were rash (n = 28, 100%), itch (n = 28, 100%), dry skin (n = 23, 82%), and swelling of the skin (n = 17, 61%). The head and face, followed by hands, were perceived as the most bothersome body areas affected by skin manifestations, because they are exposed and visible to themselves and other people. All patients (n = 28, 100%) reported at least one impact of DM, which varied greatly between patients, but included emotional, psychological, cognitive, and physical impacts, and those affecting daily life, such as work and sleep. Over half of the patients (n = 19, 67%) reported that their daily activities were impacted by DM. Conclusions: The qualitative interviews with patients revealed that the presentation of DM manifestations is highly variable but affects patients' emotional wellbeing, physical activities, and daily life significantly. [ABSTRACT FROM AUTHOR]

Localized scleroderma (LS) is an autoimmune disease characterized by inflammation and fibrosis, leading to severe cutaneous manifestations such as skin hardening, tightness, discoloration, and other textural changes that may result in disability. While LS shares similar histopathologic features and immune-fibroblast interactions with systemic sclerosis (SSc), its molecular mechanisms remain understudied. Endothelial cells (EC) are known to play a crucial role in SSc but have not been investigated in LS. Single-cell RNA sequencing (scRNA-seq) now allows for detailed examination of this cell type in the primary organ of interest for scleroderma, the skin. In this study, we analyzed skin-isolated cells from 27 LS patients (pediatric and adult) and 17 healthy controls using scRNA-seq. Given the known role of EC damage as an initial event in SSc and the histologic and clinical skin similarities to LS, we focused primarily on endothelial cells. Our analysis identified eight endothelial subclusters within the dataset, encompassing both disease and healthy samples. Interaction analysis revealed that signaling from diseased endothelial cells was predicted to promote fibrosis through SELE interaction with FGFBP1 and other target genes. We also observed high levels of JAG in arterial endothelial cells and NOTCH in capillary endothelial cells, indicating the activation of a signaling pathway potentially responsible for epidermal abnormalities and contributing to LS pathogenesis. In summary, our scRNA-seq analysis identified potential disease-propagating endothelial cell clusters with upregulated pathways in LS skin, highlighting their importance in disease progression. [ABSTRACT FROM AUTHOR]

Objective: Skin involvement is common in systemic lupus erythematosus (SLE), but may be resistant to conventional treatment. We sought to evaluate the efficacy of anifrolumab (ANI) in refractory cutaneous manifestations of SLE. Methods: Case series of patients with refractory cutaneous SLE from three Rheumatology Departments in Greece. Outcome measures were improvement in Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K), physician global assessment (PGA) and Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI). Clinically relevant improvement in skin was defined as decrease ≥50% (CLASI50) from baseline values. Results: Eighteen patients received ANI; all had active skin involvement at baseline. Mean (SD) SLEDAI and PGA at ANI initiation were 7.4 (2.7) and 1.4 (0.5), respectively, with a mean prednisone dose 4.9 (4.5) mg/day. Mean CLASI (Activity/Damage) at baseline was 13.9 (9.7)/2.9 (4.6). Patients were refractory to a mean 6.3 (1.5) immunomodulatory agents (including hydroxychloroquine and glucocorticoids) before the initiation of ANI. After a mean 8.5 (4.6) months, 89% (n = 16/18) of patients demonstrated significant improvement in general lupus and cutaneous disease activity, and glucocorticoid tapering. Mean SLEDAI and mean CLASI at last visit were 3.4 (1.9) and 2.1 (2.4)/1.4 (2.2), respectively, and mean daily prednisone dose decreased to 2.4 (2.2). Of note, in this group of highly refractory patients CLASI50 was achieved in 16/18 (89%) patients. One patient discontinued ANI after 4 infusions due to a varicella-zoster virus infection and one patient, who initially responded to treatment with ANI, experienced a skin flare due to temporary discontinuation due to Covid 19 infection. DORIS remission and LLDAS were attained in two (11.1%) and eleven (61.1%) patients, respectively. Conclusion: Anifrolumab is highly effective in various skin manifestations of SLE, even after prior failure to multiple treatments. [ABSTRACT FROM AUTHOR]

Introduction: Patients frequently present with renal impairment that does not fit the criteria for acute kidney injury or chronic kidney disease. This condition, known as rapidly progressive renal failure (RPRF), encompasses a diverse range of clinical syndromes characterized by the progressive renal impairment over days to weeks. Case Report: We present a case of a 37-year-old male with a short history of uremic symptoms and decreased urine output with no significant history or examination findings except pallor. The patient had a creatinine of 1.6 mg/dL in April 2022, rising to 4.4 mg/dL, then 11.6 mg/dL during May, 17.6 mg/dL in June, presented to us with a creatinine of 24.6 mg/dL, with normal kidney size and corticomedullary differentiation (CMD). Beta-2-microglobulin was elevated, and renal biopsy showed features suggestive of multiple myeloma (MM). Atypical appearing tubular casts showing 3+ patternless staining for kappa light chains and negativity for lambda light chains were observed. The patient was started on chemotherapy for MM, and renal function was gradually improving. Conclusion: Renal failure as the sole presentation of MM is rare, especially in young adults. This case emphasizes an atypical RPRF, particularly given the patient's young age. [ABSTRACT FROM AUTHOR]

We report the case of a young woman sough care for disseminated form of Yersinia enterocolitica infection (pseudoappendicitis with mesenteric lymph node, arthralgia, glomerulonephritis and hepatitis) diagnosed on Western Blot method for the detection of Yersinia antibodies. The patient also presented a rare concomitant cutaneous manifestation, as Sweet's syndrome, confirmed histologically. Neutrophilic dermatosis is an exceptional skin features among post-infectious autoimmune disorders when encountering Yersinia enterocolitica infection in clinical practice. [ABSTRACT FROM AUTHOR]

Background Methods Results Conclusions Perianal draining tunnels in hidradenitis suppurativa (HS) and perianal fistulizing inflammatory bowel disease (IBD) present diagnostic and management dilemmas.We conducted a retrospective chart review of patients with perianal disease evaluated at Mayo Clinic from January 1, 1998, through July 31, 2021. Patients' demographic and clinical data were extracted, and 28 clinical features were collected. After experimenting with several machine learning techniques, random forests were used to select the 15 most important clinical features to construct the diagnostic prediction model to distinguish perianal HS from fistulizing perianal IBD.A total of 263 patients were included (98 with HS, 100 with IBD, and 65 with both IBD and HS). Patients with HS had a higher mean body mass index, a higher smoking rate, and more commonly showed cutaneous manifestations of tunnels and comedones, while fistulas, abscesses, induration, anal tags, ulcers, and anal fissures were more common in patients with IBD. In addition to having lesions in the perianal area, patients with IBD often had lesions in the buttocks and perineum, while those with HS had additional lesions in the axillae and groin. Among the statistically significant features, the 15 most important were identified by random forest: fistula, tunnel, digestive symptom, knife‐cut ulcer, perineum, body mass index, age, axilla, abscess, tags, smoking, groin, genital cutaneous edema, erythema, and bilateral/unilateral.The results of this study may help differentiate perianal lesions, especially perineal HS and fistulizing perineal IBD, and provide promise for a better therapeutic outcome. [ABSTRACT FROM AUTHOR]

Anaphylaxis is a potentially life-threatening systemic allergic reaction that can result in fatal outcomes if not promptly and appropriately treated. The diagnosis of the cause of anaphylaxis during anesthesia can be challenging due to the complexity of the perioperative environment. Propofol-induced perioperative anaphylaxis is uncommon, occurring in perioperative anaphylactic shock cases. We present a case of perioperative anaphylactic shock in a patient with no known allergies who had been exposed to the same anesthetic agents, propofol, rocuronium, and remifentanil, three times previously without incident. Cardiac arrest occurred 50 min after induction, which showed pulseless electrical activity with decreasing saturation without bronchial spasm and skin erythema or edema. After prompt and appropriate management including cardiopulmonary resuscitation, the patient recovered without complications. The diagnosis was confirmed as propofol-induced anaphylactic shock by an elevated serum tryptase level, measured in a timely manner, and by skin tests (skin prick test and intradermal test), which revealed strong hypersensitivity to propofol. This case is notable for the cardiovascular collapse that occurred without respiratory symptoms or skin manifestations, as well as the delayed onset of anaphylaxis (>50 min). This case underscores the importance of vigilance for anaphylaxis, even with repeated exposure to previously well-tolerated drugs, as sensitization can lead to more severe reactions. It also highlights the potential for anaphylaxis to occur outside the acute phase and without typical clinical features. [ABSTRACT FROM AUTHOR]

Background: This case report presents an exceptionally rare and atypical presentation of diphtheria in a 17-year-old female of Hausa ethnicity residing in an area with an elevated incidence within Kano State, Nigeria. By the end of 39th epidemiological week of 2023, only two cases of cutaneous diphtheria have been reported among 5,811 cases managed at MMSH diphtheria treatment center (DTC), representing approximately 0.035% of all diphtheria cases during that time period. Case presentation: A 17-year-old Hausa female presented with a 3-day history of throat discomfort, malaise, and muffled speech. Physical examination revealed a pseudomembrane covering the tonsillar pillars, grade 3 tonsillar enlargement, and an unusual genital manifestation characterized by extensive vulval edema, severe pain, and a large, greyish patch extending into the vaginal introitus. Her medical history was significant for recent exposure to diphtheria and the emotional impact of her sibling's death from the same disease. Diagnostic tests, including throat swab culture and histocytology, confirmed diphtheria in the throat and vulvovaginal regions. The patient was promptly initiated on diphtheria antitoxin, Azithromycin, and innovative sitz baths with hydrogen peroxide. After 4 days of Sitz bath therapy, complete pseudomembrane clearance was observed, and the patient's symptoms resolved. Conclusion: This case underscores the complexity of diphtheria presentations, particularly with rare pseudomembranes in both throat and vaginal regions. The successful management, combining traditional and innovative therapies, highlights the importance of recognizing and addressing unusual manifestations promptly. The potential role of auto-inoculation and the efficacy of interventions like hydrogen peroxide sitz baths warrant further investigation. Overall, this case contributes to the understanding of diverse diphtheria presentations, guiding future clinical strategies for management of diphtheria cases and emphasizing the imperative of comprehensive vaccination efforts. [ABSTRACT FROM AUTHOR]

Background: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but life-threatening skin lesion triggered by hypersensitive drug reaction. They are characterized by extensive epidermal necrosis and skin exfoliation. Fulminant type 1 diabetes mellitus (FT1DM) is featured by a rapid-onset of hyperglycemia with ketoacidosis due to severely destroyed β-cell function. Fulminant type 1 diabetes mellitus as a sequela of SJS/TEN has rarely been reported. Case presentation: We present a 73-year-old female patient who developed SJS/TEN skin allergic reaction after taking carbamazepine and phenytoin for 35 days. Then, hyperglycemia and diabetic ketoacidosis occurred 20 days after discontinuation of antiepileptic drugs. A very low serum C-peptide level (8.79 pmol/l) and a near-normal glycosylated hemoglobin level met the diagnostic criteria for fulminant T1DM. Intravenous immunoglobulin (IVIG) and insulin were promptly administered, and the patient recovered finally. Conclusions: This rare case indicates that monitoring blood glucose is necessary in SJS/TEN drug reaction, and comprehensive therapy with rehydration, insulin, antibiotics, and IVIG may improve the prognosis. [ABSTRACT FROM AUTHOR]

Introduction: Immune checkpoint inhibitors (ICIs) are linked with various cutaneous side effects ranging from mild to life-threatening. Herein, we present a unique case of palmar-plantar erythrodysesthesia (PPE) in a patient treated with atezolizumab. Case report: A 72-year-old white man was diagnosed with Tumor, node, metastasis (TNM) stage IIIA lung adenocarcinoma in November 2022. He underwent right lower lobectomy and mediastinal lymphadenectomy followed by adjuvant cisplatin-pemetrexed. As of May 2023, he did not have any evidence of relapse. He then started switch maintenance therapy with atezolizumab. At 24 weeks, the patient developed erythematous palmar skin lesions, followed by blisters and peeling of both palms, which were associated with swelling and pain, consistent with grade 2 PPE. Management and outcome: Causality assessment between nivolumab and PPE via adverse drug reaction probability scale revealed a score of 5. Atezolizumab was continued, and he started on a cream consisting of trolamine and 75% water to palms twice daily. A follow-up visit 6 weeks later showed significant improvement in symptoms and appearance of palmar lesions. Discussion: Cutaneous side effects are commonly seen with ICIs. PPE is a common dermatologic toxicity of certain tyrosine kinase inhibitors (TKIs). This effect has been previously reported with combination therapies consisting of an ICI plus a TKIs, but not with ICI monotherapy. Awareness of this potential side effect of ICIs would prevent unnecessary work-up, and lead to its prompt diagnosis and treatment. [ABSTRACT FROM AUTHOR]

The presence of Demodex spp. mites on the skin is a common phenomenon in the human population. In most people, it is an asymptomatic infestation, but in some patients, it can contribute to the occurrence of diseases such as demodicosis, rosacea, or blepharitis, as well as non-specific symptoms. In this study, the results of tests assessing the presence of Demodex spp. by direct microscopic examination (DME) in 2508 patients from northern Poland with the suspicion of demodicosis were retrospectively analyzed. A total of 3684 tests were performed. Among them, only 1585 (43.02%) revealed the presence of Demodex spp., while 2099 (56.98%) were negative. It was shown that in the analyzed population of patients with clinical suspicion of demodicosis, the degree of confirmation of the presence of Demodex spp. positively correlated with the patient's age (p = 0.001) and the mite was mainly found on the edges of eyelids and on the facial skin. Additionally, in men, the presence of Demodex was more often confirmed than in women (p = 0.004). In conclusion, the proper diagnosis of demodicosis still constitutes an important clinical problem due to the non-specificity of symptoms and the low confirmation of clinical suspicions of infestation by DME, especially in lower age groups. [ABSTRACT FROM AUTHOR]

Craniofacial fibrous dysplasia (CFD) occurs in the craniofacial bones. CFD is characterized by painless and progressive single or multiple non-inflammatory masses on the head and face. The involvement of different craniofacial tissues and organs may result in facial deformities, impaired vision, sinus infections, hearing impairment, and displaced missing teeth, which seriously affect the patient's appearance, quality of life, and physical and mental health. Patients with specific types of CFD may also have extra-skeletal manifestations such as skin and/or endocrine system disorders. Due to the complex disease spectrum and diverse clinical phenotypes of CFD, the treatment strategy for CFD is still in the exploratory stage. We have discussed how to balance conservative and surgical treatment, develop individualized surgical plans at the appropriate time of surgery, and establish multidisciplinary teams for this disease. [ABSTRACT FROM AUTHOR]

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In the age of telehealth medicine, an individual's facial features may provide the only physical clues signaling the presence of a heritable cancer predisposition syndrome. These syndromes include APC -associated polyposis, Birt-Hogg-Dubé syndrome, CYLD cutaneous syndrome, hereditary leiomyomatosis and renal cell cancer, multiple endocrine neoplasia, neurofibromatosis type 1, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and tuberous sclerosis complex 1 and 2, among others. Correctly identifying characteristic features is important for genetic and nongenetic specialists as early detection can enable prompt intervention, improving patient outcomes. Advancements in the availability of genetic testing allow patients and their relatives to have more information about their genetic risk profile than before. These changes in clinical pathways, combined with improvements in screening and risk-reducing treatment, highlight the need to outline the cutaneous and morphologic features of high-risk cancer syndromes for clinicians. In this review, we describe the important facial features of hereditary cancer predisposition, with emphasis on diagnosis, cutaneous and extracutaneous manifestations, and screening. [ABSTRACT FROM AUTHOR]

Necrobiotic xanthogranuloma (NXG) is a rare systemic disease, that commonly manifests with orbital and ocular adnexal involvement, presenting with periocular yellow papules and plaques that may ulcerate. Periorbital skin lesions are a hallmark of the disease, and in their absence the diagnosis may be delayed, preventing prompt systemic evaluation and appropriate treatment of this condition. We report a unique case of a 58-year-old female patient with NXG that presented with severe bilateral necrotizing scleritis, left orbital mass and no cutaneous manifestations of NXG. This case highlights the importance of considering NXG, despite absence of skin lesions, when other ophthalmological manifestations are present. Recognition of NXG is crucial due to the high lifelong risk of developing hematological malignancy. [ABSTRACT FROM AUTHOR]

Objective: This scoping review aimed to map the adverse reactions in the oral mucosa and face caused by the use of natural products. Methodology: This review was performed according to the Joanna Briggs Institute Manual for Evidence Synthesis and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines, with a protocol registered in the Open Science Framework (DOI 10.17605/OSF.IO/R57D8). The search was carried out systematically using PubMed, Scopus, Web of Science, Embase, LILACS, and LIVIVO databases, as well as gray literature through Google Scholar and OpenGrey. Reports of clinical cases on the adverse effects of natural products on the oral mucosa or perioral region of the face resulted from inappropriate use or self-medication were included. Data from the included studies were described in a narrative form. Results: Seven hundred and six studies were identified, and after removing duplicates and applying the eligibility criteria, 28 studies were included. The year of publication ranged from 1976 to 2022. The studies were conducted in 19 countries. Fifty patients were mentioned in the included studies and 34 were female (68%). The natural products most related to adverse reactions were propolis (n = 17), with manifestations such as perioral eczema, edema, erosions, erythema, allergic contact dermatitis, and garlic (n = 9), with manifestations such as chemical burn, burning sensation, vesicles and blisters, crusts, and ulcerations. Conclusion: Propolis and garlic were the natural products with the most reported adverse effects on the oral mucosa and perioral region. [ABSTRACT FROM AUTHOR]

Background VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by acquired somatic mutations in UBA1. Sweet-syndrome-like skin disorders [and especially histiocytoid Sweet syndrome (HSS)] may be associated with VEXAS syndrome. Objectives To characterize the clinical and histopathological features of HSS in patients with VEXAS syndrome. Methods Skin biopsies with a histological diagnosis of HSS at Rennes University Medical Center (Rennes, France) between October 2011 and January 2022 were reviewed in this study. Sanger sequencing and digital polymerase chain reaction were used to screen skin, blood and bone marrow samples for UBA1 variants, and thus classify patients as having VEXAS syndrome or not. We evaluated the clinical, histological and molecular (UBA1) characteristics of patients with or without VEXAS syndrome. Results We compared 15 skin biopsies from 7 patients found to have VEXAS syndrome and 19 skin biopsies from 15 patients without VEXAS syndrome. Persistent C-reactive protein elevation, macrocytosis, anaemia and haematological malignancies were more prevalent in patients with VEXAS syndrome [6/7 (86%), 6/7 (86%), 7/7 (100%) and 6/7 (86%), respectively] than in patients without [5/14 (36%), 6/15 (40%), 8/15 (53%) and 8/15 (53%), respectively]. These features sometimes appeared after the first skin manifestations, and a UBA1 mutation was found in the skin of five patients with VEXAS syndrome. Dermal infiltration by reniform histiocytoid cells (myeloperoxidase-positive and/or CD163-positive) and a periadnexal distribution were more frequently observed in VEXAS syndrome biopsies [15/15 (100%) and 3/15 (20%), respectively, vs. 11/19 (58%) and 0/19 (0%) in non-VEXAS syndrome biopsies, respectively]. Conclusions Our findings might help pathologists to consider a diagnosis of VEXAS syndrome and to initiate early genetic testing. [ABSTRACT FROM AUTHOR]

Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000–200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene that lead to impaired cystine transport from lysosomes to cystosol, resulting in cystine accumulation in lysosomes and subsequent cellular dysfunction. The initial manifestation, cystine accumulation in proximal tubular cells (PTCs), causes renal Fanconi syndrome, which presents with proximal renal tubular acidosis and generalized dysfunction of the proximal tubule, including the presence of polyuria, glycosuria, phosphaturia, aminoaciduria, tubular proteinuria, growth retardation, and rickets. Eventually, glomerular involvement, glomerular proteinuria, focal segmental glomerulosclerosis (FSGS), and progression to kidney failure occur. Although the kidneys are the first organs affected, and play a key role in morbidity and mortality, extrarenal multiorgan involvement can occur in patients with cystinosis, which is seen not only in adults but in early ages in untreated patients, patients with insufficient treatment, and in those that don't comply with treatment. The treatment of cystinosis consists of supportive treatment for Fanconi syndrome, and specific lifelong cystine-depleting therapy using oral cysteamine. There is strong evidence that as early as possible, initiation and ongoing appropriate therapy with cysteamine are essential for delaying the progression to kidney failure, end-organ damage, and extrarenal involvement. The present review aimed to evaluate the extra renal complications of cystinosis. [ABSTRACT FROM AUTHOR]

Background: Cutaneous manifestations of drug‐induced type IV reactions vary widely, with symmetrical drug‐related intertriginous and flexural exanthema (SDRIFE) being a less common presentation. Corticosteroids (CS), primarily known for their anti‐inflammatory effects, rarely induce hypersensitivity reactions. Objective: The aim of this case series is to report four cases of SDRIFE following systemic prednisolone therapy and to review existing CS classification proposals to better understand cross‐reactivity of CS. Patients/Methods: Patients recruited at a German dermatology centre underwent allergologic evaluation including prick and patch testing with various CS. Positive cases underwent oral challenge testing with alternative agents. The classification systems of Coopman et al. and Baeck et al. were taken into account. Discussion: Despite a paucity of literature, CS‐induced type IV reactions do occur, including SDRIFE. Classification systems based on chemical structure provide insight into cross‐reactivity patterns. Provocation tests with alternative CS highlight the complexity of managing CS hypersensitivity. Conclusion: SDRIFE may develop following systemic prednisolone therapy. Classification systems are helpful in understanding cross‐reactivity and help in the selection of alternative preparations but are not always reliable. Individualised assessment is crucial for managing CS hypersensitivity, with consideration of alternative agents and emergency use of CS when necessary. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Metastatic Crohn's disease is the rarest cutaneous manifestation of Crohn's disease, it presents as cutaneous lesions in areas that are anatomically non‐contiguous with the gastrointestinal tract. It requires a high index of suspicion for diagnosis which is confirmed on histopathology. Infliximab can be an effective treatment. [ABSTRACT FROM AUTHOR]

Introduction: Dermatomyositis (DM) is a rare systemic autoimmune disease characterized by a distinctive debilitating skin rash and skeletal muscle weakness. It is unclear if existing clinical outcome assessment (COA) measures include the concepts of priority to patients and those necessary to fully capture improvements in the active cutaneous manifestations of DM. This study aimed to develop the Cutaneous Dermatomyositis Investigator Global Assessment (CDM-IGA), a de novo IGA, for use in clinical trials of adult DM. Methods: Eight DM clinical experts participated in 60-min qualitative interviews consisting of concept elicitation and cognitive debriefing methodologies. Concept elicitation comprised open-ended questions with follow-up probes to explore clinicians' experiences of treating patients with DM, the impact of symptoms on patients' quality of life, and the severity levels of disease characteristics to explore DM progression. Cognitive debriefing required the clinical experts to perform a review of the CDM-IGA, designed to assess the severity of cutaneous disease activity of DM. After the interviews, a consensus meeting with three clinical experts was held to agree on any outstanding issues relating to the CDM-IGA. Results: The CDM-IGA was iteratively developed using the opinions of nine clinical experts. Feedback provided by all clinicians agreed that erythema was the main active cutaneous manifestation of DM and should be the primary characteristic on the CDM-IGA, split by erythema color and extent. To determine cutaneous disease severity, experts suggested adding a metric called secondary changes, which combined erosion/ulceration and lichenification, which could modify the patient's final score. Three clinical experts suggested that a photo-guide to support assessments of erythema across different skin tones could be beneficial. Conclusions: A novel CDM-IGA was developed for use with adult patients with DM in clinical trials, based on an iterative development process that combined qualitative feedback from clinical experts of DM and importantly adult patients living with DM. [ABSTRACT FROM AUTHOR]

This article presents a study on the skin manifestations of the SARS-CoV-2 Omicron variant. The study found that approximately 18.69% of patients diagnosed with COVID-19 during the Omicron wave experienced skin symptoms related to the Omicron variant. The researchers observed various types of rashes, including a novel papular urticarial-like rash. The study suggests that skin manifestations can vary depending on the specific viral strains involved, providing important information for clinical diagnosis. The researchers also found evidence of endothelial damage caused by the spike protein of SARS-CoV-2 in the skin of patients with Omicron-associated rashes. This study provides valuable insights into the diagnosis of Omicron-associated skin eruptions. [Extracted from the article]

Background: We aimed to investigate the prevalence of skin disease among patients with systemic lupus erythematosus (SLE) and determine whether LE skin disease had clinical or serologic correlates with SLE. Methods: We reviewed records of 335 patients with SLE (seen at Mayo Clinic, Rochester, Minnesota, USA) and abstracted skin manifestations, fulfilled mucocutaneous SLE criteria, and clinical and serologic parameters. Results: Of the 231 patients with skin manifestations, 57 (24.7%) had LE‐specific conditions, 102 (44.2%) had LE‐nonspecific conditions, and 72 (31.2%) had both. LE skin disease was associated with photosensitivity, anti‐Smith antibodies, and anti‐U1RNP antibodies (all P < 0.001). Patients without LE skin disease more commonly had elevated C‐reactive protein levels (P = 0.01). Patients meeting 2–4 mucocutaneous American College of Rheumatology criteria less commonly had cytopenia (P = 0.004) or anti−double‐stranded DNA antibodies (P = 0.004). No significant associations were observed for systemic involvement (renal, hematologic, neurologic, and arthritis) when comparing patients with or without LE skin involvement. LE skin involvement was not significantly associated with internal SLE disease flare, number of medications, or overall survival. Conclusions: LE skin disease commonly occurs in patients with SLE. The presence of LE skin disease had no mitigating impact on the severity of SLE sequelae, disease flares, number of medications, or overall survival. Plain language summary: Skin manifestations of systemic lupus erythematosus (SLE) are myriad and can have a dramatic impact on patients' lives. Our study at Mayo Clinic, Rochester/Minnesota, USA, investigated the range of skin disease that occurs in patients with SLE and showed that these skin manifestations require as much systemic treatment comparable to those used for other organs affected by SLE in patients without skin findings. Patients with skin manifestations did not have better survival than those without skin manifestations. Our study highlights the important role of dermatologists in the care of patients with SLE and in SLE research. [ABSTRACT FROM AUTHOR]

Familial Reactive Perforating Collagenosis (FRPC) is a very rare form of benign dermatosis frequently presented during early childhood and not associated with systemic diseases. Less than 50 FRPC patients have been reported in the literature. Due to the limited number of cases, the pathophysiology of this unique entity remains elusive; moreover, no standard treatment has been agreed upon. Here, we report a case of FRPC in a 20-year-old male who was presented with generalized multiple discrete papules covered with central keratotic plugs in all regions of his body, particularly in the facial area, neck, abdominal, and extensor region of the extremities for more than 7 years. Similar symptoms were acknowledged in the patient's family members. Histopathological analyses identified the crateriform shape invagination in the epidermis filled with inflammatory lymphocytes and basophilic debris and perforated by basophilic collagen bundles from the underlying dermis. Based on the clinical and histopathological findings, the patient was diagnosed with FRPC. He was treated with topical desoximetasone 0.25% cream applied 2– 3 times daily. A follow-up evaluation after 4 weeks revealed a near-complete resolution of skin papules. To our knowledge, this is the first report of FRPC case from Indonesia. Unlike the majority of FRPC patients who had their disease onsets during infancy or early childhood, FRPC skin manifestations in our patient started during the adolescence period. The resolution of skin manifestations after daily application of topical desoximetasone suggests that topical corticosteroids are a potential treatment option for FRPC patients. [ABSTRACT FROM AUTHOR]

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Purpose: This study examined the prevalence and severity of symptoms and symptom clusters and the relationship between symptom clusters and quality of life (QoL) in people with long COVID. Methods: This descriptive study analyzed data from 220 adults with at least one symptom of long COVID for at least 4 weeks through an online survey from August 18 to September 5, 2022. Results: The most frequent symptoms of long COVID were fatigue (94.5%), sore throat (89.1%), post-exertional malaise (88.2%), cough (88.2%), and fever (85.5%), and the most severe symptoms were fatigue (6.21±2.31), sore throat (5.78±2.78), cough (5.64±2.84), post-exertional malaise (5.46±2.64), and fever (5.21±2.90). Exploratory factor analysis revealed five distinct symptom clusters: digestive-cognitive, respiratory-fatigue, pain-dermatological, sensory, and emotional clusters. The QoL of the higher-symptom group was lower than that of the lower-symptom group (t=2.34; p=.020). Furthermore, the symptom clusters experienced by people with long COVID were associated with QoL. Conclusion: Healthcare providers must recognize symptom clusters and intervene accordingly, and nursing interventions should be developed to effectively care for individuals in these symptom clusters. [ABSTRACT FROM AUTHOR]

Introduction: Syphilis exhibits a wide range of clinical presentations, mimicking various systemic and ocular diseases. Ocular syphilis, in particular, manifests with multiple presentations, ranging from anterior uveitis to panuveitis, making it a potential differential diagnosis for Behçet’s uveitis. Here, we present a unique case of Behçet’s panuveitis that was undergoing immunomodulatory therapy and was complicated by ocular syphilis. Notably, this case also featured rare cutaneous manifestations associated with secondary syphilis, commonly known as malignant syphilis. Case Presentation: A 38-year-old Thai man with refractory end-stage Behçet’s panuveitis reported a maculopapular rash accompanied by increased intraocular inflammation. The escalation of immunomodulatory therapy, intended to manage the provisional diagnosis of active ocular and cutaneous Behçet’s disease, resulted in clinical deterioration, with the rash transforming into multiple noduloulcerative lesions. Despite negative serologic tests for syphilis at baseline before initiating immunomodulatory therapy, syphilis infection was eventually diagnosed following reevaluation and the observation of spirochetes in a skin biopsy specimen. The patient was treated with intravenous penicillin G, resulting in an improvement in intraocular inflammation and resolution of noduloulcerative rashes. Conclusion: Intraocular inflammation and mucocutaneous lesions in syphilis can mimic the presentation of Behçet’s disease. The introduction of immunomodulatory therapy may alter the clinical picture, leading to a severe and atypical presentation. A high index of suspicion for reevaluating serologic tests or performing tissue biopsies is warranted for an accurate diagnosis. [ABSTRACT FROM AUTHOR]

Background Methods Results Conclusion Despite the advancements in the categorization of clinically amyopathic dermatomyositis (CADM), the classification and diagnosis of its subtypes are still challenging. The aim of our study was to describe the clinicopathological features of CADM and assess the differences between amyopathic dermatomyositis (ADM) and hypomyopathic dermatomyositis (HDM).This retrospective study included 43 patients with CADM diagnosed at our institution from 2016 to 2020. Patients were subclassed into ADM (n = 30) and HDM (n = 13) groups to assess their clinicopathological differences.All included patients had characteristic cutaneous manifestations of dermatomyositis; 67.4% had myositis‐associated auto‐antibodies, including ANA (32.6%), RNP (14.0%), anti‐Ro52 (9.3%), anti‐p155/140 (7.0%), rheumatoid factor (7.0%), anti‐NXP‐2 (4.7%), anti‐MDA5 (2.3%), and anti‐Jo‐1 (2.3%) antibodies. One patient had associated interstitial lung disease, and another patient had oral squamous cell carcinoma. The histopathological findings included mucin deposition (69.8%), telangiectasia (65.1%), lymphocytic infiltrate (48.8%), vacuolar interface dermatitis (46.5%), and epidermal atrophy (14.0%). Compared to patients with HDM, ADM patients were significantly less likely to have epidermal atrophy, 3.3% versus 38.5% (p = 0.006), and more likely to have mucin deposition, 80.0% versus 46.2% (p = 0.028).We described the clinicopathological features of CADM and highlighted the distinctions between ADM and HDM dermatopathologic findings. This information may prove helpful in diagnosing ambiguous lesions. [ABSTRACT FROM AUTHOR]

A 55-year-old woman had remarkably generalized telangiectasia. Large atypical lymphoid cells were found within the lumen of small vessels, and CD20 was positive in her third skin biopsy. She was diagnosed with intravascular large B-cell lymphoma (IVLBCL) and went into remission of the skin manifestations after seven courses of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone) and four courses of intravenous high-dose methotrexate (HD MTX). To our knowledge, this is the first case report of IVLBCL with generalized telangiectasia in China. From a review of the literature, we found that generalized telangiectasia is a remarkable manifestation of intravascular lymphoma, and the differential diagnosis of intravascular lymphoma and panniculitis or vasculitis is very important. When the diagnosis is confusing, multiple skin biopsies are useful. [ABSTRACT FROM AUTHOR]

Oral–facial–digital syndrome type 1 (OFD1) is an X‐linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%–30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia‐like syndromes due to trichoscopy findings, absence of response to long‐term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis. [ABSTRACT FROM AUTHOR]

Background Cutaneous manifestations of sarcoidosis are seen in around 25% of patients with sarcoidosis and that usually accompanies systemic involvement. Non-caseating granuloma is the classical histopathological picture. Sarcoidosis shares many clinical and histopathological features with many granulomatous diseases. Objective To do full clinical and histopathological evaluation of all cases that were diagnosed with cutaneous sarcoidosis, trying to find clinical limitations and borders between sarcoidosis and other granulomatous mimicking diseases. Methods This is a descriptive study where all patients that were diagnosed with cutaneous sarcoidosis during the period from 2014-2023 were assessed regarding dermographic features, clinical pictures and histopathological examination. An appropriate general physical examination as well as investigative techniques were implemented to detect the presence or absence of systemic involvements. Results This study included 24 patients, whose ages ranged from 27-70 years with a mean of 47.8 years with 16 (66.7%) females and 8 (33.3%) males. All patients had shiny smooth, skin colored or dusky red papules, nodules or plaques but rarely scaly. No obvious systemic involvements were detected by physical examination or investigative techniques. The histopathological assessment showed marked granulomatous reaction consisting of multiple non-caseating non-necrotizing granuloma formations. Conclusion Sarcoidosis is emerging as not a rare cutaneous disease that can mimic and compete with other granulomatous diseases. There is no specific available test for this disease but identifying the full cutaneous and pathological features is mandatory and might lead us to the correct diagnosis, hence it is an exclusion disease. [ABSTRACT FROM AUTHOR]

Objective Fixed drug eruption is a common dermatological skin problem with acute and chronic consequences and with different clinical manifestations. The offending drugs are numerous but it is often difficult to specify them in many cases. The purpose of the study is to collect a large series of patients to clarify the difference between new and old clinical manifestations and to pinpoint the offending drugs. Methods This is a case series descriptive study where all patients with certain diagnoses of fixed drug eruption that were seen during the period from January 2014 to June 2023 were collected and analyzed regarding the demographic and clinical features. In addition, a full clinical examination was carried out including the acute, recurrent and chronic sequelae. The tracing for the insulting drugs was tried in the new and old cases. Results The analysis of 68 cases revealed that their ages ranged from 10-55 years, with males to female's ratio of 2:1. The disease was acute in (88.2%) patients, and characterized by dusky red patches, or bright red. Also, some lesions were dusky red bullous. Frequently associated with itching and burning. The chronic cases showed well circumscribed patches and macules with deep dermal melanosis. The common sites of lesions were penile in 33.82%, trunk in 17.64%, lips in 14.7%, hands in 11.76%, face in 7.35% of cases. The offending drugs were only detected in 5 (7.35%) participants. Conclusion Fixed drug eruption is a common cutaneous medical problem with diverse clinical manifestations and on healing, leaves permanent or long-lasting dermal pigmentation. Tracing for the offending drug is very difficult. [ABSTRACT FROM AUTHOR]

Background: Hepatitis C virus (HCV) affects approximately 2-2.5% of the global population. In Egypt, the prevalence was reported at 7% in 2015. Over recent years, new direct-acting antiviral (DAA) therapies have been developed. One of the most widely used regimens in Egypt for treating HCV infection is a combination of sofosbuvir and daclatasvir. However, there is still a limited understanding of the potential dermatological side effects associated with these medications. Objective: This study aimed to evaluate the frequency and clinical manifestations of cutaneous adverse reactions in patients undergoing treatment with direct-acting antiviral drugs. Patients and methods: This research involved 140 HCV-positive patients who were monitored for 12 weeks during their treatment. Of these, 105 patients were treated with a combination of sofosbuvir and daclatasvir (protocol 1), while 35 patients received the same regimen along with ribavirin (protocol 2). Dermatological evaluations were conducted at the start of treatment and weekly during follow-up visits to identify any skin-related side effects. Results: Dermatological adverse reactions were observed in 48 patients (34%), with 38 patients (36%) in protocol 1 and 10 patients (28%) in protocol 2. The skin-related issues noted during treatment included itching, mild generalized drug eruptions, hyperpigmentation, dry mouth, acne flare-ups, telogen effluvium, and ecchymosis. Conclusion: Directly acting antiviral therapy might yield some dermatological adverse effects. Most of them are reversible and don't require stopping of the treatment. [ABSTRACT FROM AUTHOR]

Background: Systemic lupus erythematosus is a condition characterized by the immune system destroying multiple organs in the body. Aim: To assess and characterize C1q rs 631090 polymorphism in a group of Egyptian children with juvenile systemic lupus erythematosus (jSLE) and to investigate the relationship between this polymorphism, phenotypes, presenting manifestations, activity, and damage indices. This mutation was previously studied in adult systemic lupus erythematosus (SLE) patients in Egypt but not in pediatrics, also C1q deficiency was the diagnosis of one of our SLE patients who presented with severe skin manifestations and recurrent infections. Patients and Methods: 114 children were recruited in this study, 67 Egyptian juvenile SLE patients and 47 healthy age matched children as control group. Whole blood (EDTA) samples were collected from studied population then DNA was genotyped for rs631090(c.187+267T>C). Results: Out of our study population, 24 patients (35.8%) had gene mutation either homozygous or heterozygous (C/C and C/T); homozygous mutation C/C in (13.4%), which was significantly greater than the control group. Lupus nephritis incidence significantly varied among patients with homozygous and heterozygous mutations, with the homozygous group showing lower incidence (p value 0.002). Vasculitis was highest in homozygous C/C in (33.3%) compared to (11.6%) in non-mutant group T/T and none (0%) of the heterozygous group C/T. Conclusion: Our study suggests that a homozygous mutation in the gene C1q rs631090 may be a beneficial prognostic factor for juvenile SLE patients with milder disease complications. [ABSTRACT FROM AUTHOR]

Skin manifestations are common in axial spondyloarthritis (axSpA) and may precede axial involvement. Multidisciplinary management of patients with spondyloarthritis (SpA) is essential. Combined dermatology–rheumatology clinics are established for early recognition of the disease, comorbidities and a comprehensive treatment approach. Treatment options for axSpA are limited because conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) and glucocorticoids are ineffective for axial symptoms. Janus kinase inhibitors (JAKi) are targeted synthetic disease-modifying antirheumatic drugs (tsDMARDs) that decrease transduction signalling to the nucleus, resulting in a reduced inflammatory response. Currently, tofacitinib and upadacitinib are approved for treating axSpA in patients with inadequate response to TNF inhibitors (TNFi). Upadacitinib has shown efficacy in non-radiographic axSpA (nr-axSpA), suggesting that JAKi are efficacious across the spectrum of axSpA. The availability of JAKi has opened more options for patients with active axSpA based on the efficacy data and the ease of administration. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Spices, because of their bioactive content, can cause irritation and allergic symptoms in the respiratory system and skin. Spice shop workers are constantly exposed to spices and dried herbs as part of their jobs. This study aimed to investigate the work-related symptoms of spice shop workers. Another aim was to assess the risk status of having an atopic nature for work-related symptoms. MATERIAL AND METHODS: This was a cross-sectional study. Our research team visited the spice shops and a questionnaire was administered to 112 workers to assess work-related symptoms. In order to determine atopy, 79 of them had skin prick tests with common aeroallergens. RESULTS: Workers had eye complaints (19.6%), runny noses (22.3%), skin symptoms (9.8%), shortness of breath (9.8%), and coughs (19.6%) at work. The prevalence of atopy was 18%. Atopy was associated with work-related eye complaints (odds ratio (OR): 4.12, 95% CI: 1.17-14.46), work-related runny nose, and work-related cough (OR: 4.85, 95% CI: 1.44-16.32, and OR: 4.41, 95% CI: 1.30-14.97). CONCLUSIONS: The workers in spice shops are adversely affected by spices and dried herbs in their working environment. Being sensitive to common aeroallergens poses a risk for occupational symptoms. [ABSTRACT FROM AUTHOR]

The clinical and histopathological features of herpes zoster (HZ) are usually straightforward. Atypical histological presentations, in the absence of the classical viral cytopathic changes, are well documented and can make the diagnosis of HZ extremely difficult. Herein, we review the existing literature on atypical cutaneous histological manifestations of the disease, with emphasis on the subtle clues, use of immunohistochemistry, and potential pitfalls. [ABSTRACT FROM AUTHOR]

Background: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease that may affect the oral mucosa. The variable spectrum of oral lesions observed in SLE can pose challenges in diagnosis, particularly when the lesions occur in isolation. The aim of this study was to describe the oral lesions occurring in patients with SLE from Latin America. Methods: This collaborative record-based study involving 11 oral and maxillofacial pathology and medicine services across Venezuela, Argentina, Chile, Brazil, and Mexico describes the clinicopathological profile of SLE-related oral lesions. Results: Seventy patients with SLE and oral lesions were included in the study. The majority were females (75.7%; female/male ratio: 3.1:1) and white (62.1%), with a mean age of 38.4 years (range: 11–77 years). The most common site of oral lesions was the hard/soft palate (32.0%). Clinically, oral lesions predominantly presented as ulcers (26.6%), erosions (26.6%), and white lesions (23.4%). Isolated oral lesions occurred in 65.2% of individuals, while cutaneous manifestations occurred in 80.3%. The main clinical diagnostic hypothesis in 71.4% of cases was an immune-mediated disease. Oral biopsies followed by histopathological analysis were performed in 50 cases. Conclusion: Oral lesions of SLE exhibit a variety of clinical and histopathological features. A key point in diagnosis is that unusual oral changes without an obvious local cause may indicate a possible systemic condition presenting with oral lesions. A multidisciplinary approach, which includes regular oral examination, is warranted to identify oral lesions and provide treatment. [ABSTRACT FROM AUTHOR]

Monoclonal Gammopathy of Undetermined Significance (MGUS) is a clonal plasma cell disorder that is considered preneoplastic, asymptomatic, and only requiring observation. However, MGUS may result in cutaneous complications, which are poorly understood, causing treatment delays and patient suffering. We present 30 patients with cutaneous findings associated with MGUS, characterizing clinical presentations, isoforms, treatments, and outcomes. These included: MGUS-associated 'rashes' (pruritic eczematous rashes), reactive and mucin-depositional conditions (pyoderma gangrenosum, scleromyxedema), M-protein-related deposition disorders (POEMS syndrome, Waldenstrom macroglobulinemia), and cutaneous lymphomas. Twelve of 30 (40%) patients received multiple myeloma drugs (MMDs). Eleven (92%) patients improved, and those not receiving MMDs rarely improved, suggesting that MMDs have efficacy for cutaneous manifestations of MGUS. Therefore, trialing MMDs may be warranted for patients with MGUS not responding to other therapies. Moreover, evaluation for monoclonal gammopathy in elderly patients with intractable pruritus or other chronic skin conditions that are non-responsive to skin-directed therapies should be considered. [ABSTRACT FROM AUTHOR]

Skin lesions are frequently observed in children with rheumatic diseases, particularly in conditions such as IgA vasculitis (IgAV) and Kawasaki disease (KD). In paediatric vasculitis, the presence of skin lesions serves as an early indicator, emphasising the importance of timely diagnosis to prevent complications, such as cardiac or renal involvement. Conversely, autoinflammatory disorders like juvenile systemic lupus erythematosus (SLE) and juvenile dermatomyositis (DM) may manifest with cutaneous manifestations either at the onset of disease or during its progression. Identifying these skin lesions prior to the appearance of systemic symptoms offers an opportunity for early diagnosis and treatment, which has a positive influence on the outcomes. Additionally, it is noteworthy that specific rheumatological conditions, such as acute rheumatic fever (ARF) or oligoarticular or polyarticular forms of juvenile idiopathic arthritis (JIA), may exhibit occasional, but significant skin involvement, which is strongly correlated with an unfavourable prognosis. The assessment of skin is important in the holist approach to assessing patients for potentially systemic/multisystem disorder and helps distinguish discrete conditions. [ABSTRACT FROM AUTHOR]

Childhood-onset systemic lupus erythematosus (cSLE) is a chronic autoimmune disease with a multisystemic involvement diagnosed during childhood. The disease is marked by the production of autoantibodies targeting self-antigens, often before symptoms emerge. The presentation, clinical course, and outcome vary significantly among patients with cSLE. The onset of cSLE can be at any age during childhood while a diagnosis of cSLE before the age of 5 years is rare and raises a suspicion of monogenic lupus. Childhood-onset systemic lupus erythematosus affects various organs and systems, most frequently presenting with mucocutaneous, musculoskeletal, renal, and neuropsychiatric manifestations. Multiple disease flares can be seen during the disease course. Childhood-onset systemic lupus erythematosus causes significant morbidity and mortality. Children and adolescents with cSLE show higher disease activity and damage, and more aggressive immunosuppressive treatments are needed compared to adultonset SLE. Early diagnosis can be difficult due to the insidious onset with nonspecific symptoms. Disease activity and damage measures aim to ensure an accurate evaluation of disease status. A multidisciplinary approach and individualized disease management are important. Disease management is complex including the control of disease activity, the reduction of flares and damage, and a limitation of drug toxicity while improving the health-related quality of life in patients with cSLE. [ABSTRACT FROM AUTHOR]