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Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library. This review includes 48 case reports, original studies, and reviews on NF1 in pregnancy. The research on the interlink between NF1 and fertility and its influence on human-assisted reproduction techniques is limited. Preimplantation testing (by in vitro fertilization) and prenatal diagnosis (by chorionic villus sampling or amniocentesis) are available to detect affected fetuses. However, genotype–phenotype correlation is difficult to predict. Preconceptional planning and targeted investigations are crucial in understanding the extent of maternal disease. Although in some cases lesions can evolve rapidly during pregnancy, most pregnancies and births in NF1 go well with careful planning. There is a higher incidence of pheochromocytomas and pre-eclampsia, vascular rupture, and cardio-respiratory issues. Anesthesia at birth is a challenge in most cases, and before offering spinal anesthesia, imaging tests should be performed to characterize spinal lesions. General anesthesia may also be challenging when the disease affects the face, neck, upper spine, or airways. Birth-related difficulties may arise because of large neurofibromas located at the level of skin incision or birth canal; uterine atony may be expected if there are uterine lesions. Some complications can develop in postpartum, and affected women should be carefully followed even after pregnancy. Fetal risks include preterm birth (spontaneous or iatrogenic), growth restriction and developmental issues, birth complications, cardiovascular risk, and fetal/neonatal demise. Pregnancies in women with NF1 should be regarded as high-risk and followed in a multidisciplinary fashion. Careful assessment of lesions is of utmost importance before and during pregnancy for anticipating potential maternal risks and before birth to plan anesthesia and delivery. [ABSTRACT FROM AUTHOR]

Gestational pemphigoid is a rare, autoimmune, subepidermal bullous disease with an incidence of 1 in 50,000 pregnancies, displaying itself through pruritic erythema and urticarial papules and plaques that evolve into tense bullae. Histopathological findings consist of subepidermal vesicles with perivascular eosinophils and lymphocytes, and direct immunofluorescence reveals C3 complement and, more rarely, IgG in a linear band along the basement membrane. The course is usually self-limiting within 6 months after delivery but, later, can be triggered by subsequent pregnancies, menstruation, or treatment with oral contraceptives. The newborn can be affected due to the transplacental passage of the maternal immunoglobulins, but, usually, less than 10% of newborns will develop lesions similar to pemphigoid gestationis. The diagnosis and management pose a difficult challenge and should be guided by the severity of the disease. We, therefore, provide a short literature review and discussion plus a case from our clinic, with a typical presentation but a delayed diagnosis and an undulating evolution, with severe manifestations and particularly difficult management due to unexpected complications. [ABSTRACT FROM AUTHOR]

Psoriasis is an inflammatory dermatosis with a complex pathogenesis, significantly impacting the quality of life of patients. The role of oxidative stress and gut microbiota in the pathogenesis of this disease is increasingly studied, appearing to underlie the comorbidities associated with this condition. We present the first prospective observational study conducted in Romania evaluating the interrelationship between gut microbiota and hematological, inflammatory, biochemical, and oxidative stress parameters in treatment-naïve psoriasis patients. Significant differences were observed in terms of microbiota composition, with lower levels of Firmicutes and Enterobacteriaceae in the psoriasis group compared to the control group. Moreover, a negative correlation was found between the serum triglyceride levels in patients with psoriasis and the Enterobacteriaceae family (p = 0.018, r = −0.722), and a positive correlation was found between the serum glucose levels and the Firmicutes/Bacteroides ratio (p = 0.03, r = 0.682). Regarding the oxidant–antioxidant status, a significant correlation was found between the FORT level and Lactobacillus (p = 0.034, r = 0.669). Lastly, the Firmicutes level negatively correlated with the DLQI level, independent of the clinical severity of the disease (p = 0.02, r = −0.685). In conclusion, even though the number of included patients is small, these results may serve as a starting point for future research into the involvement of the microbiota–inflammation–oxidative stress axis in psoriasis development. [ABSTRACT FROM AUTHOR]

Desmoplastic melanoma accounts for 5% of all cases of melanoma, but its diagnosis can be difficult due to its frequent clinical presentation with amelanotic lesions. Histologically, spindled melanocytes surrounded by a collagenous stroma are observed. Compared with other types of melanoma, the desmoplastic types presents greater local aggression, and is more prone to local recurrence, but has a lower risk of lymph node metastasis. Early detection, accurate staging, and proper surgical management are the main factors associated with higher survival rates in melanoma patients. Reflectance confocal microscopy (RCM) has proven to be a valuable imaging tool in the diagnosis of skin neoplasms, being useful for orientating practitioners towards the diagnosis of melanoma and indicating the necessity of performing a diagnostic biopsy. We present the case of 52-year-old woman, who presented to the dermatology department with an irregular, dark-colored plaque in the right deltoid region. Dermoscopy showed asymmetry with an atypical network and some areas of regression. RCM revealed pagetoid cells in the upper epidermis, cell atypia, non-edged papillae, dermal inflammation, and nucleated cells in the dermis, which are highly suggestive of melanoma. A biopsy was also performed. A histopathology exam confirmed the diagnosis of superficially spreading melanoma with a desmoplastic component, and revealed a Breslow index of 0.9 mm, Clark level IV, an absence of mitoses, angiolymphatic invasion and regression, and complete excision. The CT and PET-CT scans were negative. A biopsy of the axillary sentinel lymph node was conducted, with a negative result obtained, establishing the IB stage of the disease. The patient will remain under follow-up to look for a recurrence or a new primary melanoma. [ABSTRACT FROM AUTHOR]

Basal cell carcinoma (BCC) is the most prevalent skin cancer in the Caucasian population. A variety of different phenotypic presentations of BCC are possible. Although BCCs rarely metastasize, these tumors commonly destroy underlying tissues and should therefore be treated promptly. As vascular formation and angiogenesis are indicators of tumor development and progression, the presence of blood vessels, their morphology and architecture are important markers in skin lesions, providing critical information towards pathogenesis and diagnosis. BCC commonly lacks pigmentation, therefore it is important to emphasize the usefulness of vascular feature detection, recognition, quantification and interpretation. To answer the question of whether vascular patterns observed on dermoscopy, reflectance confocal microscopy (RCM) and histopathology might reflect the biologic behavior of BCCs, we undertook this review article. Several studies have sought, by various means, to identify vascular features associated with the more aggressive BCC phenotypes. Dermoscopic vascular pattern assessment can facilitate diagnostic discrimination between BCC subtypes, more aggressive BCCs displaying less or no pink coloration and a relative absence of central tumor vessels. RCM, a novel, non-invasive imaging technique, allows for the quantification of blood vessel size, density, and flow intensity in BCCs. BCCs are distinguished on RCM chiefly by vessels that branch and intertwine between neoplastic aggregates, a pattern strongly reflecting tumor neo-angiogenesis. The analysis of these vascular morphological and distribution patterns can provide further support in the diagnosis, assessment, or monitoring of BCCs. Histopathology shows significantly higher microvessel densities in the peritumoral stroma of BCCs, when compared to normal skin or benign tumors. This angiogenic response in the stroma is associated with local aggressiveness, therefore the quantification of peritumoralmicrovessels may further assist with tumor evaluation. How dermoscopy and RCM vascular patterns in BCC correlate with histopathological subtype and thus help in discriminating aggressive subtypes definitely deserves further investigation. [ABSTRACT FROM AUTHOR]

Atopic dermatitis (AD) is a multifactorial chronic inflammatory disease with an incompletely understood etiopathogenesis. With a significant impact on the quality of life of patients, AD has attracted the interest of many research studies aiming to investigate the complex cellular and molecular mechanisms and to identify new therapeutic pathways. Various studies have focused on psycho-immunology, emphasizing the involvement of stress, defined as a general response of the body to external or internal challenges to the AD pathology. Factors like lifestyle and leisure activities may change the behavior of immune cells in AD with a strong impact on the evolution of the disease. Moreover, the poor adherence of AD patient to standard treatment approach has led to the necessity to combine different therapies in the field of complementary and alternative medicine. Although there are still not enough data to conclude that adjuvant therapies are effective in a conventional sense, there are already promising results suggesting that alternative therapeutic strategies could be a main subject of further research. [ABSTRACT FROM AUTHOR]

The "Consensus net meeting on dermatoscopy" of 2000 determined a set of significant dermatoscopic features for the diagnosis of pigmented basal cell carcinoma (pBCC). These included small ulcerations, maple leaf-like areas, multiple blue-grey globules, large blue-grey ovoid nests, arborizing telangiectasia, and spoke-wheel structures. The latter have been defined as brown to gray, well circumscribed, radial projections meeting at a darker brown central hub. Spoke-wheel structures have a reported specificity of 100% for pBCC. Because the correlation between dermatoscopy and histology is often difficult owing to the different incidences from which lesions are seen (horizontal in dermatoscopy vs vertical in histology), in this paper we sought to highlight the underpinnings of this particular dermatoscopic feature through in vivo reflectance confocal microscopy (RCM) examination. RCM is a non-invasive imaging technique capable of delivering images of en face optical sections at nearly histological resolution, thus facilitating the correlation with dermatoscopy. RCM examination of a pBCC exhibiting spoke-wheel structures revealed flower-shaped bright tumor islands infiltrated by dendritic cells, surrounded by dark areas of clefting at the level of the dermal-epidermal junction and papillary dermis. These tumor islands were connected to the epidermis through several cord-like projections. [ABSTRACT FROM AUTHOR]

Varicella-zoster virus (VZV) is a neurotropic virus which causes two distinct syndromes: primary infection presenting as varicella, mainly occurring in children without previous exposure to VZV, and reactivation of the latent VZV in the dorsal root ganglia, causing herpes zoster in adults. Herpes zoster clinically presents as a unilateral, painful, vesicular eruption, usually distributed to one or two adjacent thoracic dermatomes. As it is rarely seen confined to the upper limbs, few reports of herpes zoster involving the ulnar nerve exist in the literature, the majority describing patients who present with segmental zoster paresis of the upper extremity. This paper reports the case of a 73-year-old woman with ulnar and posterior antebrachial cutaneous nerve zoster reactivation and no history of immunosuppressive disorders. Therefore, rare occurrences of herpes zoster, such as the involvement of cervical dermatomes, should also be considered when faced with the differential diagnosis of symptomatic skin rashes of the upper limb, especially in elderly or immunosuppressed patients. [ABSTRACT FROM AUTHOR]

Basal cell carcinoma is a slow growing non-melanoma skin cancer appearing as a non-healing, painless, and sometimes pruriginous sore, usually on sun-exposed areas. Although it rarely metastasizes, BCC diagnosis and treatment should not be delayed due to its local invasive potential. Currently, dermatoscopy is a well propagated and commonly employed tool in clinical practice, providing a fast and handy approach to clinical diagnosis, without the significant financial costs associated with other more sophisticated diagnostic means. Since the very first dermatoscopic descriptions of basal cell carcinoma, the list of dermatoscopic diagnostic criteria has been updated and renewed numerous times. Dermatoscopy significantly augments basal cell carcinoma detection by its capability of discriminating it from other skin lesions and inflammatory skin conditions. Moreover, current evidence suggests that this noninvasive, real-time imaging technique is also valuable in tumor management, seeing that it provides additional information related to histopathological subtype, presence or lack of pigmentation, lateral tumor extension, and tumor response to non-surgical treatments. In this paper, we aim to summarize time-honored as well as current knowledge on the value of dermatoscopy in the diagnosis, classification, and treatment of basal cell carcinoma. [ABSTRACT FROM AUTHOR]

Rationale. Psoriasis is a prevalent chronic inflammatory disease with worldwide distribution affecting approximately 2% of the Caucasian population. There have been many population- and family-based studies that agree on the strong genetic component of this disease. Several studies have investigated the relationship between cytokine gene polymorphisms, psoriasis, and the occurrence of comorbidities but their data are conflicting. Objective. This study examines cytokine gene single-nucleotide polymorphisms (SNPs) in the context of psoriasis and metabolic syndrome, with a focus on the occurrence of comorbidities in psoriasis patients. The working hypothesis is that particular SNPs may predispose to an accelerated disease course and more comorbidities in psoriasis patients. Methods. This cross-sectional study was carried out in 2016 in the Dermatology Department of "Elias" University Emergency Hospital, Bucharest and included 82 psoriasis patients. Several clinical and laboratory parameters were recorded, and the presence of metabolic syndrome (MetS) was noted. Using real-time PCR, we tested for the following SNPs: rs361525, rs1800629, rs1800896, rs610604, rs17782313. Results. Disease severity was not significantly influenced by any of the five studied SNPs. Gene polymorphism of rs17782313 was found to influence the occurrence of psoriatic arthritis. In these patients, rs610604 and rs17782313 polymorphisms were associated with the presence of diabetes mellitus. Furthermore, rs17782313 influenced the presence of obesity, heterozygotes being more at risk. Our data suggested that MetS occurred independently of the five studied SNPs. Discussion. The influence of certain cytokine gene polymorphisms on multiple organ systems is justification enough for further analysis of the genetic and molecular mechanisms of metabolic syndrome development in psoriasis patients. [ABSTRACT FROM AUTHOR]

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Copyright of Medic.ro is the property of MEDICHUB MEDIA, S.R.L. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)