Search Results (90)

Liver cirrhosis, a progressive and often irreversible condition, exerts widespread systemic effects, with the skin frequently serving as a visible window into the extent of hepatic dysfunction. Cutaneous manifestations, such as spider angiomas, palmar erythema, jaundice, and pruritus, not only reflect underlying pathophysiologic changes but also serve as important, non-invasive diagnostic and prognostic markers of disease severity. Early detection of such cutaneous findings may allow for early treatment, optimize patient management, and improve outcomes. This review addresses the various cutaneous manifestations of liver cirrhosis, their pathogenesis, and their prognostic and diagnostic importance, emphasizing the need for heightened clinical awareness of the improvement in patient care. Full article

Background/Objectives: Melanoma is an aggressive skin cancer with increasing incidence worldwide. Dermoscopy has revolutionized early melanoma detection, but most studies have focused on the general adult population. This study aims to analyze dermoscopic and histological differences in melanoma across age groups, evaluating whether specific patterns vary between younger and older patients. Methods: This retrospective study included 285 histopathological confirmed melanomas diagnosed at the Dermatology Clinic of the University of Turin between November 2021 and April 2024. Patients were stratified by age (<40 vs. ≥40 years), and statistical analyses (Chi-square, logistic regression) assessed differences in dermoscopic, histopathological, and anatomical parameters. Results: Younger patients showed a higher prevalence of growth-related features (e.g., pseudopods, OR = 5.43; asymmetric globules, OR = 2.33) and a thicker Breslow index (mean = 1.05 mm). Older patients exhibited more regression-associated signs (scar-like depigmentation, OR = 0.15; peppering, OR = 0.39), greater lesion size, and solar elastosis. Dermoscopic regression significantly predicted histological regression, with age-stratified analysis revealing peppering as a predictor in younger patients (p = 0.015) and scar-like depigmentation in older ones (p = 0.012). Conclusions: Melanoma exhibits distinct dermoscopic features depending on patient age, with growth-associated patterns being more common in younger individuals and regressive patterns predominating in older patients. These findings highlight the importance of age-specific diagnostic considerations in melanoma detection, potentially improving early diagnosis and patient outcomes. Full article

Inherited epidermolysis bullosa (EB) is a heterogeneous clinical entity that includes over 30 phenotypically and/or genotypically distinct inherited disorders, characterized by mechanical skin fragility and bullae formation. Junctional EB (JEB) is an autosomal recessive disease characterized by an intermediated cleavage level within the skin layers, commonly at the “lamina lucida”. Laryngo-onycho-cutaneous syndrome (LOC) is an extremely rare variant of JEB, characterized by granulation tissue formation in specific body sites (skin, larynx, and nails). Although most cases of JEB are caused by pathogenic variants occurring in the genes encoding for classical components of the lamina lucida, such as laminin 332 (LAMA3, LAMB3, LAMC2), integrin α6β4 (ITGA6, ITGB4), and collagen XVII (COL17A1), other variants have also been described. We report the case of a 4-month-old male infant who presented with recurrent bullous and erosive lesions from the first month of life. At the first dermatological evaluation, the patient was agitated and exhibited hoarse breathing, a clinical sign suggestive of laryngeal involvement. Multiple polygonal skin erosions were observed on the cheeks, along with similar isolated, roundish lesions on the scalp and legs. Notably, nail dystrophy and near-complete anonychia were evident on the left first and fifth toes. Due to the coexistence of skin erosions and nail dystrophy in such a young infant, a congenital bullous disorder was suspected, prompting molecular analysis of all potentially involved genes. In the patient’s DNA, clinical exome sequencing (CES) identified a pathogenic variant, apparently in homozygosity, in the exon 1 of the LAMA3 gene (18q11.2; NM_000227.6): c.47G > A;p.Trp16*. The presence of this variant was confirmed, in heterozygosity, in the genomic DNA of the patient’s mother, while it was absent in the father’s DNA. Subsequently, trio-based SNP array analysis was performed, revealing a paternally derived pathogenic microdeletion encompassing the LAMA3 locus (18q11.2). To our knowledge, this is the first reported case of JEB with a LOC-like phenotype caused by a maternally inherited monoallelic nonsense mutation in LAMA3, unmasked by an almost complete deletion of the paternal allele. The combined use of exome sequencing and SNP array is proving essential for elucidating autosomal recessive diseases with a discordant segregation. This is pivotal for providing accurate genetic counseling to parents regarding future pregnancies. Full article

Introduction: Acute Myeloid Leukemia (AML) is a hematologic malignancy characterized by the clonal expansion of myeloid progenitors. While it primarily affects the bone marrow, extramedullary relapse occurs in 3–5% of cases, and it is linked to poor prognosis. Central nervous system (CNS) involvement presents diagnostic challenges due to nonspecific symptoms. CNS manifestations include leptomeningeal dissemination, nerve infiltration, parenchymal lesions, and myeloid sarcoma, occurring at any disease stage and frequently asymptomatic. Methods: A 62-year-old man with a recent history of AML in remission presented with diplopia and aching paresthesias in the left periorbital region spreading to the left frontal area. The diagnostic workup included neurological and hematological evaluation, lumbar puncture, brain CT, brain magnetic resonance imaging (MRI) with contrast, and dermatological evaluation with skin biopsy due to the appearance of nodular skin lesions on the abdomen and thorax. Results: Neurological evaluation showed hypoesthesia in the left mandibular region, consistent with left trigeminal nerve involvement, extending to the periorbital and frontal areas, and impaired adduction of the left eye with divergent strabismus in the primary position due to left oculomotor nerve palsy. Brain MRI showed an equivocal thickening of the left oculomotor nerve without enhancement. Cerebrospinal fluid (CSF) analysis initially showed elevated protein (47 mg/dL) with negative cytology; a repeat lumbar puncture one week later detected leukemic cells. Skin biopsy revealed cutaneous AML localization. A diagnosis of AML relapse with CNS and cutaneous localization was made. Salvage therapy with FLAG-IDA-VEN (fludarabine, cytarabine, idarubicin, venetoclax) and intrathecal methotrexate, cytarabine, and dexamethasone was started. Subsequent lumbar punctures were negative for leukemic cells. Due to high-risk status and extramedullary disease, the patient underwent allogeneic hematopoietic stem cell transplantation. Post-transplant aplasia was complicated by septic shock; the patient succumbed to an invasive fungal infection. Conclusions: This case illustrates the diagnostic complexity and poor prognosis of extramedullary AML relapse involving the CNS. Early recognition of neurological signs, including cranial nerve dysfunction, is crucial for timely diagnosis and management. Although initial investigations were negative, further analyses—including repeated CSF examinations and skin biopsy—led to the identification of leukemic involvement. Although neuroleukemiosis cannot be confirmed without nerve biopsy, the combination of clinical presentation, neuroimaging, and CSF data strongly supports the diagnosis of extramedullary relapse of AML. Multidisciplinary evaluation remains essential for detecting extramedullary relapse. Despite treatment achieving CSF clearance, the prognosis remains unfavorable, underscoring the need for vigilant clinical suspicion in hematologic patients presenting with neurological symptoms. Full article

Canine leishmaniosis (CanL), caused by Leishmania infantum, is a major zoonotic disease primarily transmitted by sand flies. Unlike in adult dogs, the clinical course of CanL in puppies remains poorly characterized, regardless of the transmission pathway (i.e., vertical transmission or vector exposure). This study presents the first systematic literature review (SLR) focused on juvenile CanL, alongside an atypical clinical case report. A PRISMA-compliant search across four databases identified three eligible studies describing CanL in puppies (≤9 months, according to the current canine life stage guidelines). The case involves a 4.5-month-old puppy adopted from southern Italy with papulo-nodular skin lesions and generalized lymphadenomegaly as well as a mild normocytic normochromic anemia and increased C-reactive protein. L. infantum infection was confirmed by serology, polymerase chain reaction (PCR), and cytology. The SLR suggests that dermatological lesions and/or lymphadenomegaly, whether associated with laboratory abnormalities, represent the most common clinical manifestations of CanL in puppies. In the presented case, the coexistence of systemic dissemination signs and papulo-nodular skin lesions, typically associated with vector-borne transmission, suggests the possibility of a dual route of infection by L. infantum. Juvenile CanL should be considered in differential diagnoses and supported by thorough diagnostic evaluation and appropriate follow-up protocols. 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: Dissolvable Microneedle Patches (DMP) have emerged as a promising approach for improved topical delivery of skincare agents with dermatological values (dermo-cosmetics), effectively addressing the various skin concerns. These patches enable minimally invasive penetration of the skin’s outer layer, facilitating efficient transdermal delivery of actives by overcoming skin barrier for successful outcomes. Objectives: The aim of this work was to assess the efficacy and safety of hyaluronic acid-based microneedle patches (HA-MNP) with agents for the managements of an inflammatory disorder of acne. A particular focus was on helping individuals with moderate inflammatory acne. Methods: A single-center clinical trial was conducted over a period of four weeks on acne patients. Measurable skin properties, including sebum content, redness, and severity of inflammation, were evaluated to gauge the overall usefulness of the MN patches. Results: The application of the patches resulted in a significant decrease in sebum content, with reductions of −4.9% and −36.8% observed after two and four weeks of use, respectively. The redness of localized acne lesions also showed a marked decline, with reductions of −47.2% and −65.5% observed after two and four weeks of use, respectively. Additionally, the severity of inflammatory signs in acne lesions showed significant improvements, with reductions of −68.8% and −83.3% observed for the application periods. The patches utilized in this investigation exhibited highly encouraging results, displaying a notable synergistic effect in the context of combating acne without adverse effects. Conclusions: The patches have the potential to be broadly applied as a modular and adaptable approach for therapeutic delivery of actives for various skin diseases and concerns. Full article

Background/Objectives: Genitourinary syndrome of menopause (GSM) encompasses a variety of symptoms associated with estrogen deficiency, affecting the genitourinary tract. Effective management often requires a multifaceted approach. Although radiofrequency (RF) treatment has been explored as a non-hormonal intervention for GSM, evidence remains limited and inconclusive. Oral collagen peptides have demonstrated systemic tissue benefits in dermatological studies, but with effects that are not yet well understood in the context of GSM. This pilot study investigated whether combining RF with an oral supplementation containing specific bioactive collagen peptides and ultra-low-molecular-weight hyaluronic acid would provide superior symptom relief compared to RF alone in women with GSM. Methods: Twenty menopausal women were randomized into two groups: Group 1 (n = 10) received vulvovaginal RF treatment every two weeks for two months; Group 2 (n = 10) received the same RF treatment alongside daily oral supplementation for four months. Subjective symptoms, objective signs, and vaginal pH were assessed at baseline (T0), post-RF treatment (T1), and three months post-RF treatment (T2), employing a two-way repeated-measures ANOVA to assess differences between groups over time. Results: Both groups showed substantial improvements in all the clinical parameters evaluated at T1 and T2 compared to T0. However, the magnitude of such improvements was higher among patients from Group 2, who achieved better outcomes at T2 compared to patients from Group 1, with differences being statistically significant regarding subjective symptoms (p < 0.001), objective signs (p < 0.001), and vaginal pH (p = 0.015), thus demonstrating the sustained benefits of the combination therapy over RF treatment alone during the follow-up time. Conclusions: Combined treatment with vulvovaginal RF and food supplements improved the signs and symptoms of GSM, and compared to RF treatment alone, it enhanced and maintained the benefits in a three-month follow-up period. Full article

Background: Psoriasis is a persistent, inflammatory skin disease with autoimmune characteristics. Beyond the obvious signs of skin lesions, it has negative systemic repercussions that impair the patient’s quality of life. This study aimed to determine the effectiveness of N-acetylcysteine (NAC) alone or in combination with Vitamin E in the treatment of mild to moderate active psoriasis vulgaris. Methods: This study was an open-label, prospective, randomized, controlled interventional clinical trial conducted at Cairo Hospital for Dermatology and Venereology (Al-Haud Al-Marsoud). In total, 45 patients with mild to moderate symptoms were randomly assigned to three groups, with fifteen patients each, as follows: the control group received the standard psoriatic treatment of topical steroids and salicylic acid; the acetylcysteine group received standard psoriatic treatment in addition to NAC 600 mg per day 30 min prior to breakfast for 8 weeks; and the acetylcysteine and Vitamin E group received standard psoriatic treatment in addition to NAC 600 mg per day, in a similar way of dosing like the previous group, and Vitamin E 1000 mg per day. All participants performed a comprehensive assessment including hematological parameters, the Psoriasis Area and Severity Index (PASI), the Dermatology Life Quality Index (DLQI), malondialdehyde (MDA), and interleukin-36 gamma (IL-36γ). Results: The treatment strategy involving the use of NAC alone and in combination with Vitamin E showed significant improvement in the assessed parameters compared to the control group receiving conventional therapy. The acetylcysteine group showed improvements of 41% in PASI and 49.4% in DLQI, a decrease of 34.3% in MDA, and a decrease of 31% in IL-36γ. Similarly, the acetylcysteine and Vitamin E group showed improvements of 52% in PASI and 42% in DLQI, a decrease of 37% in MDA, and a decrease of 35% in IL-36γ. There were no significant differences found between the N-acetylcysteine and N-acetylcysteine and Vitamin E groups. Moreover, significant positive correlations were found between MDA, IL-36γ, and PASI at baseline and after the third follow-up. Conclusions: This study found promising therapeutic benefits in the addition of NAC to the conventional therapy in psoriatic patients with mild to moderate symptoms, as it significantly improved psoriasis disease outcomes and improved the patient’s quality of life. However, the addition of Vitamin E to the NAC regimen did not show additional benefits. Full article

Introduction: Tuberous sclerosis complex (TSC) is a rare multisystemic genetic disorder characterized by the formation of benign tumors in various organs, including the central nervous system, skin, kidneys, and heart. The diagnosis is based on well-defined clinical criteria, such as those from Schwartz (2007) updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group. The study aims to investigate the clinical, imaging, and molecular characteristics of patients diagnosed with tuberous sclerosis and to explore the correlation between specific genetic mutations (TSC1 and TSC2 genes) and the severity of clinical manifestations. Material and Methods: This is a retrospective longitudinal study of 13 patients diagnosed with tuberous sclerosis, identified in the records of the Bihor Regional Center for Medical Genetics (BRCMG) within the Bihor County Emergency Clinical Hospital from 1984 to 2024. Clinical, imaging, and molecular features were assessed. Patients were evaluated by a multidisciplinary team, including a geneticist, pediatrician, neurologist, psychiatrist, and psychologist. Clinical and imaging data were retrospectively collected from the congenital malformations and genetic disease records of BRCMG Bihor and statistically analyzed. Results: All patients showed clinical and imaging signs consistent with the diagnosis of tuberous sclerosis. Neurological manifestations were present in 83% of patients, including epilepsy and cognitive delays. Renal lesions were detected in 46% of cases, and dermatological lesions, such as facial angiofibromas, were observed in 69% of patients. Mutational variants identified in the TSC2 gene correlated with a more severe clinical presentation, including severe intellectual disability and treatment-resistant seizures, compared to variants in the TSC1 gene. Conclusions: Our study, although involving a small number of patients, highlights the clinical heterogeneity of tuberous sclerosis and the importance of a multidisciplinary approach in patient management. Early diagnosis and ongoing monitoring are essential to improving the quality of life for patients. Further studies are needed to assess the impact of therapeutic interventions and genetic correlations within the studied population. Full article

Picosecond lasers are gaining increasing popularity in dermatology and aesthetic medicine due to their favorable safety profile and a wide range of therapeutic applications. While originally employed primarily for tattoo removal, their versatility has extended their use to the treatment of various aesthetic skin conditions, including hyperpigmentation, acne scars, stretch marks, and signs of photoaging. Owing to their ultra-short pulse duration, picosecond lasers effectively target pigment particles and stimulate dermal remodeling, offering patients a safe and effective solution to improve the appearance of their skin. The introduction of the picosecond laser into clinical dermatology practice marks a notable advancement in addressing a broad spectrum of skin problems. Full article

Background: Neuroenhancement in sports, through pharmacological and non-pharmacological methods, is a complex and highly debated topic with no definitive regulatory framework established by the World Anti-Doping Agency (WADA). The hypothesis that dermatological changes could serve as observable biomarkers for neurodoping introduces a novel and promising approach to detecting and understanding the physiological impacts of cognitive enhancers in athletes. As neurodoping methods become increasingly sophisticated, developing objective, reliable, and non-invasive detection strategies is imperative. Utilizing dermatological signs as a diagnostic tool for internal neurophysiological changes could offer critical insights into the safety, fairness, and ethical considerations of cognitive enhancement in competitive sports. A systematic correlation between skin manifestations, the timeline of neurodoping practices, and the intensity of cognitive enhancement methods could provide healthcare professionals valuable tools for monitoring athletes’ health and ensuring strict compliance with anti-doping regulations. Methods: Due to the limited body of research on this topic, a systematic review of the literature was conducted, spanning from 2010 to 31 December 2024, using databases such as PubMed, Science Direct, and Google Scholar. This study followed the 2020 PRISMA guidelines and included English-language articles published within the specified period, focusing on skin lesions as adverse reactions to pharmacological and non-pharmacological neuroenhancement methods. The research employed targeted keywords, including “skin lesions AND rivastigmine”, “skin lesions AND galantamine”, “skin lesions AND donepezil”, “skin lesions AND memantine”, and “skin lesions AND transcranial direct electrical stimulation”. Given the scarcity of studies directly addressing neurodoping in sports, the search criteria were broadened to include skin reactions associated with cognitive enhancers and brain stimulation. Eighteen relevant articles were identified and analyzed. Results: The review identified rivastigmine patches as the most used pharmacological method for neuroenhancement, with pruritic (itchy) skin lesions as a frequent adverse effect. Donepezil was associated with fewer and primarily non-pruritic skin reactions. Among non-pharmacological methods, transcranial direct current stimulation (tDCS) was notably linked to skin burns, primarily due to inadequate electrode–skin contact, prolonged exposure, or excessive current intensity. These findings suggest that specific dermatological manifestations could serve as potential indicators of neurodoping practices in athletes. Conclusions: Although specific neuroenhancement methods demonstrate distinctive dermatological side effects that might signal neurodoping, the current lack of robust clinical data involving athletes limits the ability to draw definitive conclusions. Athletes who engage in neurodoping without medical supervision are at an elevated risk of adverse dermatological and systemic reactions. Skin lesions, therefore, could represent a valuable early diagnostic marker for the inappropriate use or overuse of cognitive-enhancing drugs or neuromodulation therapies. The findings emphasize the need for focused clinical research to establish validated dermatological criteria for detecting neurodoping. This research could contribute significantly to the ongoing neuroethical discourse regarding the legitimacy and safety of cognitive enhancement in sports. Full article

Canine demodicosis is a contagious skin disease caused by the over-proliferation of Demodex mites in the host’s hair follicles. This study examines the prevalence, clinical signs, and hematological changes associated with demodicosis in street dogs of Rupandehi, Nepal. Between August 2023 and January 2024, 100 skin scrapings were collected from each street dog presenting dermatological symptoms. The samples, treated with 10% KOH and microscopically examined, revealed a 21% positivity rate for demodicosis, with all cases involving Demodex canis. The infection predominantly affected young puppies (37.5%), females (21.6%), mixed breeds (33.3%), and dogs with above-ideal body conditions (25%). There was no significant association between infection and variables such as age, gender, breed, or nutritional status. Clinically, all affected dogs exhibited alopecia, primarily on the legs. Hematological assessments indicated significant increases in neutrophils and eosinophils and a notable decrease in mean corpuscular hemoglobin concentration and lymphocytes among infected dogs (p < 0.05). This study underscores the importance of vigilant monitoring and comprehensive diagnostic practices in effectively managing and treating canine demodicosis, especially in street dogs. Full article

Background: Vulvar lymphangiectasia (VLA) is a rare condition characterized by the abnormal dilation of lymphatic vessels in the vulvar region, often secondary to surgery or radiation therapy for malignancies. Its clinical presentation closely resembles other dermatological conditions, posing challenges for accurate diagnosis and appropriate management. This study aims to present a rare case of VLA occurring decades after cervical carcinoma surgery, contributing to the limited literature on this condition and offering insights into its differential diagnosis and management. Methods: A 70-year-old female patient presented with multiple fluid-filled vesicles in the vulvar region appearing 36 years after undergoing radical hysterectomy with pelvic lymphadenectomy for cervical carcinoma. The lesions were biopsied, and histopathological and immunohistochemical analyses were performed to confirm the diagnosis. A review of the existing literature on VLA was conducted to contextualize this case. Results: A histopathological examination revealed papillomatous lesions with hyper-keratosis, dilated lymphatic vessels, and no signs of atypia, consistent with VLA. An immunohistochemical analysis confirmed the lymphatic nature of the lesions. Due to the patient’s comorbidities, asymptomatic presentation, and lesion stability, conservative management with regular follow-up was chosen. No progression or complications were observed during the 12-month follow-up period. Conclusions: This case highlights the importance of considering VLA in patients presenting with vulvar vesicles, especially those with a history of lymphatic disruption. An accurate diagnosis through histopathological and immunohistochemical techniques is essential to distinguish VLA from other conditions. Conservative management may be appropriate for asymptomatic cases, but tailored therapeutic strategies are needed to address symptomatic or disfiguring lesions. 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