Search Results (176)

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a wide range of clinical manifestations, including café-au-lait macules, cutaneous neurofibromas, and an increased risk of certain malignancies. Historically, there has been no approved medical therapy specifically aimed at achieving tumor shrinkage or regression. Surgical intervention is often limited by factors such as the inaccessibility of the tumor location, involvement of critical tissues, suboptimal timing, or the inability to achieve complete resection. Recent advancements in targeted therapies, particularly MEK inhibitors, have introduced promising treatment options for patients with severe manifestations of NF1. This review highlights the pathophysiology of NF1 and the therapeutic role of MEK inhibitors and presents a detailed case study of a patient treated with selumetinib, a novel MEK inhibitor. While the therapeutic potential of selumetinib has been demonstrated in preclinical and clinical studies, including those involving Japanese patients, this review aims to evaluate its application in real-world clinical practice. A comprehensive discussion of the case study provides insights into the efficacy, safety, and clinical challenges associated with selumetinib treatment, offering valuable perspectives for its use in managing NF1. Full article

Intravascular lymphoma (IVL) is a rare, aggressive subtype of non-Hodgkin lymphoma (NHL) characterized by the selective proliferation of neoplastic lymphoid cells within small and medium-sized blood vessels, most frequently of B-cell origin (IVLBCL). Its protean clinical presentation, lack of pathognomonic findings, and absence of tumor masses or lymphadenopathies often lead to diagnostic delays and poor outcomes. IVLBCL can manifest in classic, hemophagocytic syndrome-associated (HPS), or cutaneous variants, with extremely variable organ involvement including the central nervous system (CNS), skin, lungs, and endocrine system. Diagnosis requires histopathologic identification of neoplastic intravascular lymphoid cells via targeted or random tissue biopsies. Tumor cells are highly atypical and display a non-GCB B-cell phenotype, often expressing CD20, MUM1, BCL2, and MYC; molecularly, they frequently harbor mutations in MYD88 and CD79B, defining a molecular profile shared with ABC-type DLBCL of immune-privileged sites. Therapeutic approaches are based on rituximab-containing chemotherapy regimens (R-CHOP), often supplemented with CNS-directed therapy due to the disease’s marked neurotropism. Emerging strategies include autologous stem cell transplantation (ASCT) and novel immunotherapeutic approaches, potentially exploiting the frequent expression of PD-L1 by tumor cells. A distinct but related entity, intravascular NK/T-cell lymphoma (IVNKTCL), is an exceedingly rare EBV-associated lymphoma, showing unique own histologic, immunophenotypic, and molecular features and an even poorer outcome. This review provides a comprehensive overview of the current understandings about clinicopathological, molecular, and therapeutic landscape of IVL, emphasizing the need for increased clinical awareness, standardized diagnostic protocols, and individualized treatment strategies for this aggressive yet intriguing malignancy. Full article

Cutaneous manifestations can serve as early and sometimes the first clinical indicators in various hereditary cancer predisposition syndromes. This review provides a comprehensive overview of the dermatological signs associated with these syndromes, aiming to facilitate their recognition in clinical practice. Hereditary Breast and Ovarian Cancer syndrome is notably linked to an increased risk of melanoma. BAP1 tumor predisposition syndrome is characterized by BAP1-inactivated melanocytic tumors. Muir–Torre syndrome, a variant of Lynch syndrome, presents with distinctive cutaneous neoplasms such as sebaceous carcinomas, sebaceous adenomas, and keratoacanthomas. PTEN hamartoma tumor syndrome commonly features hamartomatous growths, trichilemmomas, acral keratoses, oral papillomas, and genital lentiginosis. Gorlin syndrome is marked by basal cell carcinomas and palmoplantar pits, while Peutz–Jeghers syndrome is identified by mucocutaneous pigmentation. In familial adenomatous polyposis, the cutaneous findings include epidermoid cysts, fibromas, desmoid tumors, and lipomas. Additionally, we examined monogenic disorders associated with cancer risk and skin involvement, such as xeroderma pigmentosum, neurofibromatosis type 1, familial atypical multiple-mole melanoma syndrome, and Fanconi anemia. The early recognition of these dermatologic features is essential for a timely diagnosis and the implementation of appropriate surveillance strategies in individuals with hereditary cancer syndromes. Full article

Background and Objectives: This study investigated the frequency and clinical significance of subclinical but substantial peripheral arterial disease (PAD), identified using PAD evaluation, including pulse volume recording/ankle–brachial index (PVR/ABI), transcutaneous oxygen pressure (TcpO2), and skin perfusion pressure (SPP) tests in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Materials and Methods: This study included 54 patients with PAD evaluation results at or after AAV diagnosis. PVR/ABI and/or TcpO2 and/or SPP were performed on the same day. Abnormal PVR/ABI, TcpO2, and SPP were defined as PVR/ABI < 0.97, TcpO2 < 40 mmHg, and SPP < 50 mmHg, respectively. Poor outcomes included all-cause mortality, end-stage kidney disease (ESKD), cerebrovascular accidents, and acute coronary syndrome after PAD evaluation. Results: The median age of the 54 patients was 67 years, and 48.1% were male. In total, 3 of 54 patients (5.6%), 6 of 16 (37.5%), and 6 of 23 (26.1%) had abnormal PVR/ABI, TcpO2, and SPP, respectively. The concordance rate between abnormal PVR/ABI and abnormal TcpO2 or SPP was very low. Among the 54 patients, 5 (9.3%) died, and 2 (3.7%) progressed to ESKD. Abnormal SPP was significantly associated with cutaneous and renal manifestations at the time of PAD evaluation and had the potential to predict progression to ESKD during follow-up in patients with AAV. Conclusions: This study is the first to reveal the clinical usefulness of PAD evaluation: abnormal SPP may have the potential to identify subclinical but substantial PAD and can predict simultaneous kidney involvement as well as future progression to ESKD in patients with AAV. Full article

Background/Objectives: Cutaneous manifestations can signal underlying systemic inflammation, potentially exacerbated by chronic stress and diminished well-being. While links between psychosocial factors and skin health are recognized, comprehensive data across diverse populations remain limited. This study aimed to quantify associations between self-reported stress management capabilities, sociodemographic factors (gender, age, education, urbanization, professional status), lifestyle factors indicative of well-being, and the prevalence of six common dermatological manifestations (pruritus, burning sensations, redness, rash, desquamation, sunburn) within a large Polish cohort. Methods: This cross-sectional study analyzed data from 27,000 adult participants (22,043 women, 4887 men) collected during the National Healthy Skin Test (2023) via an online questionnaire. Participants reported the frequency of dermatological symptoms, stress management practices related to skin health, and relevant lifestyle factors (indicators of well-being). Logistic regression analyses identified significant predictors for each skin manifestation. Results: Effective stress coping ability was significantly associated with a lower prevalence of all six investigated dermatological manifestations (p < 0.001 for all). Significant gender differences emerged: women reported more frequent redness and burning sensations (p < 0.001), while men reported more frequent rash, sunburn, and desquamation (p < 0.001). Younger age (18–24 years) was associated with increased rash, desquamation, and redness compared to older adults (>65 years), who reported fewer burning sensations and less pruritus. Higher education and residence in large urban centers (≥500,000 inhabitants) were associated with increased reports of specific symptoms like sunburn and redness. Conclusions: This large-scale study demonstrates a significant association between psychosocial factors, particularly self-reported stress management, and the prevalence of six common, self-reported dermatological manifestations across various sociodemographic groups in Poland. The findings underscore the potential importance of considering a biopsychosocial approach in relation to these common skin symptoms. Further research is warranted, but these results suggest that for such common, self-reported skin issues, integrating stress reduction strategies and considering sociodemographic contexts and well-being may be valuable considerations for potentially enhancing personalized patient care and warrant further clinical investigation. Full article

Background: Cutaneous toxicities associated with CDK4/6 inhibitors are uncommon but may affect treatment adherence. We present the case of a patient with advanced breast cancer who developed vitiligo-like lesions after initiating ribociclib, contributing to the growing evidence of this under-recognized adverse effect. Methods: We present the case of a 72-year-old woman diagnosed in 2007 with early-stage, luminal A, HER2-negative breast cancer, initially treated with surgery and tamoxifen. In 2022, she experienced locoregional recurrence with bone metastases. In January 2023, she began treatment with ribociclib plus letrozole. Two months later, she developed intense pruritus, xerosis, and paresthesia, followed by hypopigmented lesions on her face and upper extremities. Clinical evaluation, supported by photographs and a skin biopsy (led to a diagnosis of ribociclib-induced vitiligo. Management included dose adjustments to the ribociclib and dermatologic treatments, including topical corticosteroids, antihistamines, and short courses of oral prednisone. Results: By September 2024, her skin lesions had stabilized and her pruritus improved with a reduced dose of ribociclib (one tablet per day). However, the hypopigmented patches persisted, mainly on her face and extremities. Despite these cutaneous effects, she maintained an acceptable quality of life and continued effective oncologic treatment. Conclusions: This case highlights the importance of early recognition and management of ribociclib-related cutaneous toxicities. A multidisciplinary approach is essential to minimize adverse effects without compromising therapeutic efficacy. Further research into the dermatologic manifestations of targeted therapies is needed to optimize patient care. Full article

This study aimed to evaluate the adverse effects of using Oxycide™ (Ecolab, Copenhagen, Denmark) disinfectant in dental practices and assess the need for improved safety measures. Materials and methods: An observational study was conducted in dental offices, evaluating 200 dental assistants exposed to Oxycide™ disinfectant. Data on disinfectant use practices, personal protective equipment, and reported symptoms were collected through an online questionnaire. Results: 63% (126 out of 200) of staff experienced symptoms including respiratory irritation, eye irritation, and skin reactions after Oxycide™ exposure. Inconsistent use of personal protective equipment and improper application techniques were observed. In conclusion, the use of Oxycide™ disinfectant in dental offices has been associated with a wide range of respiratory and cutaneous symptoms among staff, ranging from mild irritative manifestations to severe allergic reactions. Improved protocols, staff training, and consideration of safer alternatives are needed to protect dental personnel while maintaining infection control standards. For a sustainable dental practice, it is essential to balance effective disinfection with staff safety. While high-level disinfectants like Oxycide™ are effective against pathogens, their repeated use—especially in poorly ventilated areas—can lead to respiratory discomfort and skin reactions. To mitigate these risks, clear preventive measures should be implemented: adherence to manufacturer guidelines, proper ventilation, consistent use of personal protective equipment, and ongoing staff training. These steps are crucial to reducing exposure to irritants and ensuring a safe and efficient working environment. Full article

Background: Primary cutaneous peripheral T-cell lymphoma, not otherwise specified (pcPTCL-NOS), is a rare and aggressive form of lymphoma. Its characteristics and treatment outcomes remain poorly understood. Methods: We identified 15 patients who were diagnosed with pcPTCL-NOS between January 2014 and August 2024 at Tianjin Medical University Cancer Institute and Hospital (TMUCIH) in this retrospective study. The clinical and immunophenotypic features, treatment regimens, and outcomes of these patients were investigated. Results: All patients (4 men, 11 women; median age 54 years) presented with skin lesions, including five stage T1, four stage T2 and six stage T3 lesions. pcPTCL-NOS manifests clinically either with solitary or disseminated rapidly growing nodules/tumors and papules and, less often, ulcers. The lesion sites in patients presenting with solitary/localized tumors (stage T1 and T2) were the head and limbs, and those in patients presenting with disseminated lesions (stage T3) were the trunk, head, and limbs. The CD4/CD8 immunophenotypic characteristics were as follows: CD4+/CD8− 53.33%; CD4+/CD8+ 26.67%; CD4−/CD8− 13.33%; and CD4−/CD8+ 6.67%. One patient had a T follicular helper (TFH) phenotype. Five patients had aberrant expression of the B-cell marker CD20 by tumor cells. All patients received CHOP or CHOP-like regimens as the initial treatment, with three patients undergoing complete lesion resection before chemotherapy, seven patients receiving treatment combined with chidamide (tucidinostat), two patients receiving treatment combined with brentuximab vedotin, two patients receiving treatment combined with mitoxantrone liposomes (Lipo-Mit), three patients receiving treatment combined with radiotherapy, and two patients receiving ASCT after the first-line treatment. The OS rates at 1 year, 2 years, and 3 years were 80%, 77.8%, and 77.8%, respectively; the PFS rates were 60%, 44.4%, and 33.3%, respectively. With a median follow-up of 40 months, the median PFS was 21 months, and the median OS was not reached. Univariate analyses revealed that patients with B symptoms and the CD4−/CD8− phenotype had inferior outcomes (p < 0.05). Age, sex, tumor stage, PIT score, Ki-67 index, elevated β2-MG levels, expression of CD20 or PD1, and treatment selection were not associated with the prognosis. A trend of a survival benefit in patients with solitary (T1) tumors compared with patients with disseminated (T2, T3) tumors was observed, suggesting that it is possible to reduce the intensity of treatment in patients with T1 tumors in the future. Conclusions: pcPTCL-NOS is an aggressive but poorly characterized lymphoma that may require early and active systemic treatment. However, for patients with T1 tumors, reducing the intensity of treatment with CHOP should be appropriately considered. Full article

Cutaneous leishmaniasis (CL) is a significant public health concern that affects many countries. This disease is caused by the protozoan parasite Leishmania spp. and is transmitted through the sandflies from the genus Phlebotomus and Lutzomyia. The clinical manifestations of CL can vary, often leading to challenges in accurate diagnosis and treatment. In 2022, a 51-year-old male patient presented to a tertiary care hospital in Puducherry, India, with progressively worsening facial lesions and granulomatous plaques. The patient had recently returned from Saudi Arabia, where he likely contracted the infection. Before he visited the tertiary care hospital in Puducherry, the patient had been misdiagnosed and treated for conditions such as Erysipelas and Acute Cutaneous Lupus Erythematosus (ACLE), highlighting the diagnostic challenges associated with CL. Skin scrapings from the patient were subjected to real-time PCR, confirming Leishmania spp.’s presence. Cytological examinations revealed the amastigote-like structures within macrophages, thereby establishing the identity of the parasite. For precise species-level identification, PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) and Sanger sequencing of the Internal Transcribed Spacer-1 (ITS-1) region were performed. Molecular techniques confirmed the infection as being caused by Leishmania tropica. Following the accurate diagnosis, the patient was successfully treated with Liposomal Amphotericin B, a treatment known for its efficacy against Leishmania infections. This case underscores the critical importance of considering cutaneous leishmaniasis in the differential diagnosis of travelers returning from endemic areas who present with dermatological manifestations. The initial misdiagnosis and inappropriate treatment highlight the need for heightened clinical awareness and the utilization of advanced diagnostic tools for accurate identification. Effective and timely treatment, as demonstrated in this case, is essential for the management and control of the disease. This report emphasizes the necessity of vigilance among healthcare providers to recognize and appropriately address imported cases of cutaneous leishmaniasis. Full article

Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 (OMIM 618180), predominantly manifesting with dental anomalies and hair dysplasia. However, the mutational spectrum of TSPEAR remains incompletely characterized. Methods: Two female siblings (ID#1 and ID#4) were clinically evaluated for ED. Genetic analysis, including next-generation sequencing (NGS) and Sanger validation, was conducted to identify TSPEAR variants. A segregation study confirmed inheritance patterns within the family. Results: Both affected siblings exhibited hallmark features of TSPEAR-related ED14, including oligodontia with dysmorphic, pointed maxillary central incisors. Hair thinning and cutaneous angiomas were predominant in ID#4. Genetic analysis identified two compound heterozygous variants in TSPEAR: c.543-1G>A, a splice-site variant likely to disrupt mRNA processing, and NM_144991.2:c.1251G>C(p.Gln417His), a missense variant with predicted deleterious effects. Segregation analysis confirmed maternal and paternal inheritance of the respective variants. A third sibling, ID#5, was identified as a heterozygous carrier without clinical manifestations. Conclusions: This study contributes to the expanding understanding of TSPEAR-related ED14 by providing novel genotype–phenotype correlations. Full article

Candidemia and invasive candidiasis represent critical healthcare-associated fungal infections that pose substantial challenges to medical systems worldwide. These conditions arise when fungi from the Candida genus infiltrate the bloodstream or deeper tissues, leading to a range of clinical manifestations. Among the various species, Candida albicans continues to hold its position as the most frequently encountered causative agent, largely due to its prevalence and adaptability within human hosts. However, it is far from the only significant player; other Candida species, such as Candida glabrata, Candida parapsilosis, and the particularly concerning Candida auris, contribute significantly to the disease burden and exhibit varying dominance depending on geographic regions. The clinical presentation of these infections can differ widely, spanning from subtle, almost imperceptible symptoms in some patients to severe, life-threatening fulminant sepsis in others, often accompanied by alarmingly high mortality rates that underscore the urgency of effective management strategies. Several well-established risk factors predispose individuals to developing invasive candidiasis and candidemia. Breaches in the body’s natural barriers—such as the skin (cutaneous) or the gastrointestinal (GI) tract—provide entry points for these opportunistic pathogens. Additionally, deficiencies in the host’s immune responses, whether due to medical treatments, underlying diseases, or genetic predispositions, heighten vulnerability to infection. Among the diverse Candida species, Candida auris has emerged as an especially troubling entity in recent years. This multidrug-resistant species is notorious for its resistance to standard antifungal therapies, which complicates treatment efforts and contributes to elevated morbidity and mortality rates. Its rapid global spread has positioned it as a formidable public health threat, prompting heightened surveillance and research into its behavior and control. Full article

Rosacea is a common chronic inflammatory condition primarily affecting middle-aged women. It presents with flushing, erythema, telangiectasia, papules, pustules, phymatous changes, and ocular involvement. Although typically grouped into four subtypes—erythematotelangiectatic, papulopustular, ocular, and phymatous—overlapping features often favor a phenotypic diagnostic approach. Neurogenic rosacea (NR) has emerged as a distinct subgroup featuring distinguishing features such as peripheral facial erythema, severe burning and stinging sensations, and resistance to standard rosacea therapies. Recent insights into the pathophysiology of NR propose neural dysregulation as the main driver of the condition. Specifically, the activation of TRP channels at cutaneous sensory nerve endings in the dermis triggers the release of vasoactive peptides, driving neuroinflammation and resulting in burning and stinging. Additionally, there is a marked association with neuropsychiatric comorbidities, which would further mediate the pathogenesis of the condition. In line with this pathophysiological model, NR often fails to respond to conventional rosacea treatments. Instead, patients benefit more from antidepressants and neuroleptic agents that help modulate neuronal activity and alleviate symptoms. This review explores and summarizes the scientific evidence regarding the new insights on disease pathogenesis, clinical manifestations, and proposed treatments for NR. Full article

Diabetes mellitus (DM) is a chronic metabolic disorder associated with late diagnosis due to the absence of early symptoms in patients. Cutaneous manifestations of DM often serve as indicators of insulin resistance and vary with disease progression, highlighting severity and systemic involvements. With an increasing global burden and rapidly rising prevalence, skin findings associated with DM have become more crucial for the rapid identification and treatment of underlying metabolic processes. However, current challenges in identification include inaccurate or missed detection in darker-skinned populations, which may be attributed to the lack of inclusion of diverse skin types in textbooks and research studies. This review provides clinicians with comprehensive updates on the diagnosis and treatment of cutaneous signs, complications, comorbidities, medication-associated side effects associated with DM, and the treatment of these manifestations. Full article

Introduction: The concomitant use of antibiotics, especially beta lactams, during acute EBV infection is widely associated with an increased risk of skin manifestations; the actual pathophysiology and prevalence of this phenomenon are still debated. Case report: We present the first reported case of atypical exanthema associated with amoxicillin intake in a patient with EBV-related nasopharyngeal carcinoma. We recorded a pattern in the plasma EBV-DNA load consisting of a significant increase at the onset of the rash with a sudden remission after its resolution. The patient recovered without sequelae. Discussion/Conclusions: The temporal relationship and the reported data on rash morphology, clinical findings and triggering factors support a possible correlation between the intake of beta-lactam antibiotics, particularly amoxicillin, and the onset of cutaneous manifestations in a patient with nasopharyngeal carcinoma. Such reactions can be a challenging differential diagnosis and may warrant increased provider consideration when choosing to prescribe beta lactams in patients affected by nasopharyngeal cancer. Full article

Background: Acne is a pathology of the pilosebaceous unit. It is characterized by a highly complex etiopathology which includes inflammation, hyperkeratinization, increased sebum production, colonization of Cutibacterium acne, hyperandrogenemia, and hyperinsulinemia. This condition, together with hirsutism, androgenic alopecia, and acanthosis nigricans, are highly prevalent cutaneous manifestations of the polycystic ovary syndrome (PCOS). While conventional therapies represent effective treatment options, they are not free from side effects which may reduce compliance. In this context, considerable attention has been directed toward nutraceutical supplements, which include different molecules with great potential to reduce inflammation, hyperkeratinization, hyperseborrhea, and hyperinsulinemia. Myo-inositol has been shown to be effective in improving some of the signs and symptoms of patients with microcystic ovaries: reducing body mass index (BMI), testosterone free levels, dehydroepiandrosterone sulfate (DHEAS) levels, and improving ovarian function and insulin sensitivity. Methods: The authors conducted a retrospective study that included 200 patients suffering from PCOS. Over 6 months, they analyzed the effects of the supplementation of LEVIGON™ (Sanitpharma; Milan, Italy)—a specific nutraceutical formulation containing myo-inositol, microlipodispersed magnesium, and folic acid—on the clinical picture of acne and hirsutism. Results: The supplementation of LEVIGON™ showed a significant reduction of BMI, testosterone, testosterone free, and DHEAS levels, thus improving the clinical picture of acne and hirsutism. Moreover, the impact of acne on the quality of life, assessed using the Cardiff Acne Disability Index (CADI) and Dermatology Life Quality Index (DLQI) scale, improved significantly after 3 and 6 months. Women with hirsutism benefited also from a significant improvement of the Ferriman-Gallwey score after both 3 and 6 months (p < 0.0001; p < 0.0001 respectively compared to the baseline). Conclusions: Myo-inositol supplementation, associated with microlipodispersed magnesium in a bioaccessible form, proved to be extremely useful in reducing acne and hirsutism in patients suffering from microcystic ovaries. In addition, there were no side effects, thus confirming excellent compliance. Further long-term randomized clinical trials are needed to confirm this preliminary evidence. Full article