Search Results (17)

Mpox is an emerging zoonotic infection caused by the Monkeypox virus, an Orthopoxvirus with increasing global relevance following the 2022 multinational outbreak. Historically endemic to Central and West Africa, the disease has evolved from sporadic zoonotic transmission to sustained human-to-human spread, particularly through close physical and intimate contact. Clinical manifestations typically include fever, lymphadenopathy, and progressive mucocutaneous lesions, although severity varies according to viral clade, immune status, and comorbidities. The 2022 outbreak, predominantly associated with the Clade IIb variant, was characterized by milder disease, localized lesions, and reduced mortality compared with the more virulent Clade I variant. Despite this, severe outcomes remain possible, particularly in vulnerable groups such as children, pregnant individuals, immunocompromised patients, and persons with extensive dermatological disorders. Diagnosis relies primarily on polymerase chain reaction testing from lesion-derived samples, with genomic sequencing serving as a complementary tool for epidemiological surveillance. Management is largely supportive, though antivirals such as tecovirimat may be considered in severe cases or in high-risk populations. Data regarding therapeutic safety in pregnancy are limited; however, tecovirimat appears to have the most favorable profile, whereas cidofovir and brincidofovir remain contraindicated. Prevention strategies include targeted vaccination with the non-replicating Modified Vaccinia Ankara–Bavarian Nordic vaccine, used for both pre- and post-exposure prophylaxis, particularly in individuals at elevated risk. Given the evolving epidemiological profile, the potential for vertical transmission, and the risk of adverse perinatal outcomes, Mpox infection during pregnancy poses unique clinical challenges. This review synthesizes current evidence on virology, clinical presentation, diagnosis, prevention, and management, with an emphasis on obstetric considerations and public health implications. Full article

Background/Objectives: With the increasing use of immune checkpoint inhibitors (ICIs), their administration in pregnant patients is expected to become more frequent. Although immunotherapy has transformed melanoma treatment, its use during pregnancy remains complex and controversial. Methods: We present the case of a young female patient diagnosed with advanced melanoma in whom combination ICI therapy was initiated. Results: During maintenance nivolumab treatment, a routine staging CT scan revealed an incidental pregnancy. Immunotherapy was discontinued upon pregnancy detection. The pregnancy proceeded without significant complications related to melanoma or the immunotherapy. During follow-up, the patient remained in remission and delivered a healthy male infant at 38 weeks of gestation. Conclusions: The most frequently reported side effects of ICIs during in utero exposure include fetal growth restriction, premature delivery, fetal distress syndrome, and occasional congenital abnormalities such as hypothyroidism and hand malformations. While existing evidence highlights potential risks, isolated case reports—including the present case—demonstrate that favorable pregnancy and neonatal outcomes are possible with careful monitoring and multidisciplinary care. Given the limited literature on ICI use during pregnancy, our case adds meaningful clinical insights to the field and underscores the need for further research and data collection to establish definitive guidelines, with an emphasis on individualized risk assessment and multidisciplinary care. Full article

Melanoma poses a growing concern for women of reproductive age, especially during pregnancy, when physiological changes can influence disease presentation and management. While women generally engage more in protective behaviors than men, significant disparities in awareness and preventive practices persist, particularly among racial and ethnic minorities. Pregnancy-associated hormonal and mechanical changes may alter the morphology of nevi, necessitating vigilant dermatologic monitoring. Photoprotection strategies should prioritize safety for both mother and fetus, emphasizing mineral-based sunscreens and behavioral interventions. Although standard diagnostic and treatment approaches remain broadly applicable during pregnancy, advanced melanoma presents unique therapeutic challenges. Targeted therapies like BRAF inhibitors may offer maternal benefits in selected cases, although data are limited, whereas immunotherapies require cautious consideration due to potential fetal risks. Ultimately, optimal care of melanoma during pregnancy demands a multidisciplinary approach that integrates dermatologic, obstetric, oncologic, and pediatric expertise to balance maternal health needs with fetal safety. This review addresses awareness and preventive behaviors in women of reproductive age, pregnancy-related changes in melanocytic nevi, and management considerations during pregnancy. Full article

Background/Objectives: Acne vulgaris is a prevalent dermatological condition, yet clear, region-specific management guidelines, particularly for India’s diverse population, remain limited. Effective acne management extends beyond pharmacologic therapy, emphasizing proper skincare, patient education, and adherence strategies. This consensus aims to provide tailored, evidence-based recommendations for optimizing acne treatment in the Indian context. Methods: A panel of 14 dermatology experts with ≥15 years of experience reviewed literature, real-world clinical practices, and patient-centric factors relevant to acne management in India. Using a modified Delphi process with two virtual voting rounds, 61 statements across seven clinical domains were evaluated. Consensus was defined as ≥75% agreement. Results: Topical retinoids remain the first-line therapy, with combination regimens (benzoyl peroxide or topical antibiotics) preferred to enhance efficacy and minimize antibiotic resistance. Hormonal therapies, including combined oral contraceptives and spironolactone, are recommended for females with resistant acne. Guidance includes individualized treatment plans, baseline investigations, and selection of appropriate topical and systemic agents. Special considerations for pregnancy and lactation prioritize maternal and fetal safety. Conclusions: This expert consensus provides practical, evidence-based recommendations for acne management in India, integrating pharmacological and non-pharmacological approaches. The tailored guidance supports individualized care, antibiotic stewardship, and improved treatment adherence, aiming to enhance patient outcomes nationwide. 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

Background/Objectives: Diamine oxidase (DAO) deficiency can lead to excessive histamine absorption at the intestinal level, triggering symptoms that affect the gastrointestinal, neurological, dermatological, respiratory, circulatory, and musculoskeletal systems. This condition, known as histamine intolerance, is more prevalent in women. While serum DAO levels have been observed to increase during pregnancy in healthy women, there is a lack of in-depth studies evaluating the relationship between pregnancy, DAO activity, and histamine intolerance symptoms. This is the first study to assess serum DAO activity before, during, and after pregnancy, as well as the evolution of histamine intolerance symptoms in women diagnosed with this condition. Due to low histamine, diets are quite restrictive, no dietary intervention was considered for pregnant women. Methods: This prospective observational study used an assessment questionnaire to evaluate the presence or absence of histamine-related symptoms in 30 adult women with histamine intolerance before, during, and after pregnancy. Serum DAO activity was also measured at the three time points. Results: Nearly all women (27 out of 30) experienced symptom improvement during pregnancy (p < 0.001). Specifically, at least 77% of women reported a marked reduction in flatulence, bloating, headache, rhinorrhea, flushing, pruritus, hypotonia, or muscle pain. Concurrently, the DAO activity significantly increased 11-fold from the baseline, coinciding with symptom relief. At two months postpartum, symptoms tended to reappear, accompanied by a significant decrease in DAO activity in all participants. Conclusions: This first-of-its-kind observational study demonstrates an improvement in histamine intolerance symptoms and an increase in serum DAO activity during pregnancy. The pronounced symptom relief suggests that restrictive diets, such as low-histamine diets, may not be necessary during pregnancy. Further research is required to confirm these novel findings. Full article

Background/Objective: During the systemic treatment of moderate to severe psoriasis in patients of reproductive age, contraindications and therapeutic peculiarities must be taken into account. Doctor–patient communication is crucial for therapy conduct and compliance. Methods: This survey among male and female patients from the German psoriasis registry, PsoBest, aims to provide real-world evidence on communication and patient needs for those of reproductive age (18–55). Result: In total, 404 patients were eligible for the analysis (254 m, 150 f), including 39 patients currently wishing to conceive (20 m, 19 f). Patients with and without the desire to have children received similar systemic therapy. In most cases, treatment was not adapted when patients expressed a desire to have children (85.9% m, 79.5% f). Only 38.3% of men and 49.9% of women had been informed about options for conception during or before systemic therapy, mainly by dermatologists (77.4% m, 84.6% f). The majority of patients retrieved additional information about the wish to conceive and medications from the internet and other media. This survey emphasizes the importance of open communication between patients and physicians regarding family planning and therapy options. Conclusions: Physicians need to broach the topic of family planning, conception and pregnancy with patients and support with evidence-based information to enable comprehensive medical decision making and safe therapy choices. Full article

Background/Objectives: Systemic sclerosis (SSc) is associated with high malignancy risk. With improving SSc management, tumor risk could change, therefore re-evaluating the possibility of neoplasms is necessary. Our aim was to observe malignancy prevalence and its risk factors in the Hungarian SSc population, comparing them to our previous and international results. Methods: We retrospectively collected the data of SSc patients followed by and admitted to three Hungarian clinical centers between 2018 and 2024. The collected data included the characteristics of SSc and neoplasms, autoantibody positivities, immunosuppressive treatments, pregnancy and environmental factors. Results: Out of 541 patients, 85 had malignancy and, in total, 96 tumors were registered. Skin cancer was the most common (n = 24), followed by breast (n = 14) and lung cancer (n = 14). Among skin cancers, almost one-third was melanoma. Tumors mostly appeared in two peaks: around the time of SSc diagnosis and 10 years later. The occurrence of anti-RNA Polymerase III (anti-RNAPIII) was significantly higher in cancerous patients. Tumor risk was higher with anti-RNAPIII (Odds Ratio (OR) 4.33, 95% Confidence Interval (95% CI) 1.08, 15.1) and anti-topoisomerase I (ATA) (OR 2.34, 95% CI 0.94, 5.84) positivity. Women and patients with diffuse cutaneous SSc (dcSSc) were more likely to have malignancy. Smoking (OR 1.27, 95% CI 0.53, 3.00) also raised the possibility of carcinogenesis. Cancerous patients were older (p-value = 0.003), and their mortality was worse compared to non-cancerous patients (Hazard Ratio (HR) 4.75, 95% CI 2.12, 10.62). Pregnancy did not provide a protective effect against breast cancer. Conclusions: Malignancy significantly contributes to the increased mortality in SSc. Female gender, dcSSc, anti-RNAPIII positivity, smoking and older age represent a higher risk of tumors. Dermatological cancer screening is necessary for all patients with SSc. Full article

Background: Pregnancy induces hormonal, immunologic, and vascular changes that profoundly affect dermatologic health. This systematic review aimed to assess the impact of pregnancy on dermatological disorders in terms of disease incidence, severity, maternal-fetal outcomes, and optimal management strategies. Methods: A systematic search was performed in PubMed, MEDLINE, and Web of Science databases, following PRISMA guidelines. Studies evaluating pregnant women with dermatological disorders, pregnancy-related dermatoses, and pre-existing morbidities, were included. The collaboratively extracted data included patient demographics, disease severity, treatment approaches, and pregnancy outcomes. Results: A total of 8490 pregnant cases with dermatologic changes and conditions caused by pregnancy were studied. The dermatological conditions were divided into physiological changes, pregnancy-related exacerbation of pre-existing skin conditions, and pregnancy-specific dermatoses. Intrahepatic cholestasis of pregnancy and pemphigoid gestationis were associated with increased rates of adverse fetal outcomes in patients with specific dermatoses, including increased preterm birth and fetal distress rates. The atopic eruption of pregnancy and polymorphic eruption of pregnancy were highly relevant, but their effect on fetal health was minimal. The efficacy and safety of treatment modalities, including corticosteroids, antihistamines, and ursodeoxycholic acid, were variable. Conclusions: Pregnancy drastically affects dermatological health, but the nature of the impact depends on the condition. Optimal maternal and fetal outcomes rely on early diagnosis and individualized management strategies. More randomized controlled trials are required to develop standardized diagnostic and treatment guidelines to enhance the quality of dermatologic care during pregnancy. Full article

Antiphospholipid syndrome (APS) is a rare autoimmune disease characterized by thrombosis and obstetric complications. Extracellular vesicles (EVs) of either platelet and endothelial origin are recognized to be involved in the pathophysiology of the disease. This study aimed to evaluate the potential role of endothelial- and platelet-derived extracellular vesicles and the clinical features or progression of APS. We enrolled 22 patients diagnosed with APS and 18 age and sex-matched healthy controls. We determined APS-specific antibody positivity and clinical manifestations in APS affected patients, with a focus on neurological, cardiovascular, dermatological, hematological manifestations, and pregnancy-related complications. Platelet-poor plasma was collected from either patients and controls for the analysis of EVs by flow cytometry technology using monoclonal antibodies to specifically identify those derived from either platelets and/or endothelial cells. EVs of endothelial and platelet origins were overall significantly increased in patients as compared to healthy controls. Furthermore, a significant association was also observed between the number of extracellular vesicles and specific organ involvement, particularly central nervous system manifestations, hematological abnormalities, and obstetric complications. An elevated proportion of endothelial-derived EVs in APS and a reduction of resting endothelial cell-derived EVs were observed in APS-affected women with obstetric complications. Our findings highlight the involvement of endothelial cells and platelets in mirroring the activities of endothelial cells and platelets in APS. Additionally, extracellular vesicles may serve as potential predictors of organ involvement and disease-related damage. Full article

Epidermolysis Bullosa (EB) is an extremely rare and disabling inherited genetic skin disease with a predisposition to develop bullous lesions on the skin and inner mucous membranes, occurring after mild friction or trauma, or even spontaneously. Within the spectrum of EB forms, dystrophic EB (DEB) represents the most intriguing and challenging in terms of clinical management, especially with regard to pregnancy, due to the highly disabling and life-threatening phenotype. Disappointingly, in the literature little focus has been directed towards pregnancy and childbirth in DEB patients, resulting in a lack of sound evidence and guidance for patients themselves and clinicians. The current study aims to contribute to the DEB literature with an updated summary of the existing evidence regarding the obstetrical and anesthesiological management of this rare disease. Furthermore, this literature review sought to answer the question of whether, and if so, in which way, the pregnancy condition may alter the course of the underlying dermatologic skin disease. Having all this information is indispensable when counseling a patient with DEB who desires a child or is expecting one. Finally, we reported own experience with a pregnant woman with a recessive DEB whom we recently managed, with a favorable outcome. Full article

The global rise in the age of childbirth, influenced by changing sociodemographic patterns, has had a notable impact on fertility rates. Simultaneously, assisted reproductive techniques (ARTs) have become increasingly prevalent due to advancements in reproductive medicine. The paper explores the intersection between the surge in ARTs and the rising number of iatrogenic autoimmune progesterone dermatitis (APD). Autoimmune progesterone dermatitis, commonly known as progesterone hypersensitivity, manifests itself as a mucocutaneous hypersensitivity syndrome. It is characterized by a wide range of dermatological symptoms, with urticaria and maculopapular rashes being the most prominent signs. Concurrently, systemic symptoms, such as fever, angioedema, and, in severe instances, anaphylaxis, may ensue. This dermatologic condition poses a significant challenge to women of childbearing age. This intricate syndrome frequently manifests itself in conjunction with menstruation or pregnancy as a reaction to physiological fluctuations in endogenous progesterone. However, given that exposure to exogenous progesterone is an integral component of various modern therapies, secondary APD has also been described. Our findings unveil a heightened likelihood of developing secondary progesterone hypersensitivity in ART patients that is attributed to the administration of exogenous progesterone through intramuscular, intravaginal, and oral routes. The study also explores available therapeutic interventions for facilitating viable pregnancies in individuals grappling with autoimmune progesterone dermatitis within the context of ARTs. This comprehensive analysis contributes valuable insights into the intricate relationship between reproductive technologies, dermatological challenges, and successful pregnancy outcomes. Full article

Background and Objectives: Acne vulgaris is one of the most common dermatological disorders among adolescents and adults in the Kingdom of Saudi Arabia (KSA). Isotretinoin is a cost-effective way of treating severe acne patients compared to other methods used for severe forms of acne management. The present study investigated the knowledge of the use of isotretinoin and its side effects among female acne patients of the reproductive age group who were on isotretinoin. This study also assessed participants’ awareness of the Saudi FDA-Pregnancy Prevention Program (SFDA-PPP). Materials and Methods: The present population-based cross-sectional survey was conducted among 768 participants using a standard and validated Arabic version questionnaire. We have applied logistic regression analysis to determine the predictors for awareness of SFDA-PPP. A Chi-square test was applied to identify the factors associated with knowledge related to isotretinoin. Results: Regarding the side effects of isotretinoin, participated female acne patients were most commonly aware of dry mouth and lips (84.5%), teratogenicity (68.2%), and headache (44.8%). Nearly 60% of the participants belonged to the low knowledge category. The present study participants’ knowledge was significantly associated with education status (p = 0.007), occupation (p = 0.01), and those participants who were aware of SFDA-PPP (p = 0.001). Furthermore, we explored that only 37.5% were aware of the SFDA-PPP program implemented in Saudi Arabia. The awareness of SFDA-PPP was significantly higher among those participants belonging to health sectors (Adjusted OR (95% CI) = 1.39 (1.01–1.92), p = 0.049). Conclusion: The present survey explored inadequate knowledge among reproductive age group female acne patients regarding isotretinoin uses, precautions to be followed, and side effects, especially teratogenic effects. This survey findings suggest that improving female acne patients’ knowledge of isotretinoin through health promotion activities is crucial, especially by giving them precise instructions about the teratogenic effects. Full article

Pruritic urticarial papules and plaques of pregnancy (PUPPP) usually occurs in the third trimester of pregnancy in primiparous women. It is a self-limiting inflammatory disorder with a still unknown pathogenic mechanism. The abdominal wall overdistension, with a subsequent inflammatory response due to damage to the connective tissue, represents a pathogenesis explanation. Clinical features involve intensely pruritic urticarial rash with edematous, erythematous papules and plaques. The clinical picture and dermal biopsy establish the diagnosis. Topical corticosteroids and oral antihistamines are usually sufficient, but sometimes systemic corticosteroids are necessary. Maternal and fetal prognosis is excellent, and the lesions resolve after birth with no scarring or pigmentary change. We present a case of a 36-year-old patient with a 32-week pregnancy who was admitted with a generalized pruritic rash accompanied by fever. The final diagnosis was decided after multiple pathology exclusions. Treatment consisted of systemic corticoid therapy. The patient gave birth by cesarean section to a healthy newborn without dermatological lesions or other conditions. Adding more PUPPP cases to the literature portfolio will bring more awareness to this under-recognized and under-reported skin disorder. We trust this case will encourage other physicians to publish more cases of pregnancy-specific dermatoses. Full article

Tumor necrosis factor-alpha (TNF-α) is a multifunctional Th1 cytokine and one of the most important inflammatory cytokines. In pregnancy, TNF-α influences hormone synthesis, placental architecture, and embryonic development. It was also shown that increased levels of TNF-α are associated with pregnancy loss and preeclampsia. Increased TNF-α levels in complicated pregnancy draw attention to trophoblast biology, especially migratory activity, syncytialisation, and endocrine function. Additionally, elevated TNF-α levels may affect the maternal-fetal relationship by altering the secretory profile of placental immunomodulatory factors, which in turn affects maternal immune cells. There is growing evidence that metabolic/pro-inflammatory cytokines can program early placental functions and growth in the first trimester of pregnancy. Furthermore, early pregnancy placenta has a direct impact on fetal development and maternal immune system diseases that release inflammatory (e.g., TNF-α) and immunomodulatory factors, such as chronic inflammatory rheumatic, gastroenterological, or dermatological diseases, and may result in an abnormal release of cytokines and chemokines in syncytiotrophoblasts. Pregnancy poses a challenge in the treatment of chronic disease in patients who plan to have children. The activity of the disease, the impact of pregnancy on the course of the disease, and the safety of pharmacotherapy, including anti-rheumatic agents, in pregnancy should be considered. Full article