Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review.

INTRODUCTION: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support. CASE REPORT: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article. CONCLUSIONS: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.

Basal Cell Carcinoma Perineural Invasion and Suggestive Signs of Perineural Invasion-Findings and Perspectives.

Basal cell carcinoma (BCC) is a malignant tumor with a rising incidence and is the beneficiary of several innovative evaluation techniques. Histopathology remains the gold standard for assessment, having the possibility of addressing multiple high-risk factors such as perineural invasion (PNI). The current study included a number of 244 BCC patients and targeted the identification of positive PNI and its suggestive signs, and whether they correlated or not with other high-risk tumor signs. PNI was found in 20.1% of patients, with 30.7% of patients having perineural chronic inflammation (PCI), which is a suggestive sign of PNI. PNI was also found in larger tumors, with deeper Clark levels, in high-risk BCCs and high-grade tumors. PNI and PCI are both important for pathology reporting, aiding in treatment choice and further patient management, with possibly positive outcomes concerning morbidity and mortality.

Orthopaedic manifestations of neurofibromatosis type 1: A case report.

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is one of the most common autosomal dominant genetic diseases. It is characterized by 'café-au-lait' spots and multiple tumors starting from the central and peripheric nervous system. The diagnosis is determined on two out of seven criteria: i) A total of 6 or more light brown spots larger than 5 mm in diameter (pre-puberty) or 15 mm in diameter (post-puberty); ii) a total of 2 or more neurofibromas or one plexiform neurofibroma; iii) axillary or inguinal freckling; iv) optic glioma; v) a total of 2 or more Lisch nodules; vi) bone abnormalities: tibia pseudarthrosis or dysplasia of the sphenoid wing; and vii) a relative of first degree having an NF1 diagnosis. A total of ~50% of patients have significant musculoskeletal manifestation, with scoliosis and congenital pseudarthrosis of tibia most common. Management of the orthopaedic manifestations of NF1 is often difficult. Due to NF1 influencing multiple organ systems, patients are likely to benefit most from a multidisciplinary treatment strategy.

Nevi, biologics for psoriasis and the risk for skin cancer: A real concern? (Case presentation and short review).

Psoriasis is a systemic inflammatory cutaneous disease that affects approximately 2% of the world's population. Systemic treatments and biologic treatment therapies are a powerful option for patients with moderate to severe psoriasis. Some studies from the literature indicate an overall small, but increased, risk of neoplasia in patients with psoriasis treated with phototherapy or systemic medication. The relationship between psoriasis and malignancy is not very well established; there are few studies with conflicting results. We present the case of a 31-year-old male patient, diagnosed with psoriasis, who was deemed eligible for systemic therapy. Treatment with methotrexate was initiated, but without a satisfactory outcome. Given the patient's resistant disease involving 15% of his body surface, his desire to have a clear skin, besides his being naïve to biologic therapy, he was proposed to start treatment with secukinumab 300 mg monthly. The patient experienced complete clearance of lesions and was followed-up on the basis of clinical and biological parameters. There are limited data concerning the relationship between melanocytic lesions, psoriasis and melanoma. Immunologic pathways implicated in psoriasis induce a reduction in the number of melanocytic nevi. Nevertheless, little is known concerning the association of melanocytic nevi with psoriasis. Thorough skin examination, meaning clinical and dermoscopic evaluation of melanocytic lesions, must be encouraged in patients treated with systemic therapies such as biologic agents.

Gadolinium-based contrast agents in neurofibromatosis type 1 (Review).

Gadolinium (symbol Gd) is the chemical element with atomic number 64 and is aductile rare-earth metal, and +3 is its most frequent oxidation state. Gadolinium has an ionic radius of 0.99 Å and is nearly identical to the one of Ca2+. Gd3+ and Ca2+ can become toxic to biological systems if complete. It slowly reacts with atmospheric oxygen to form a black coating and in nature it is usually found only in an oxidized form. Gadolinium usually has impurities similar to those of other rare-earth metals, when separated, because of their similar chemical properties. Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is an autosomal dominant disorder of tissues of ectodermal origin, accounting for over 90% of neurofibromatosis cases. Diagnosis is primarily clinical and the central nervous system is commonly involved. The screening of the brain with magnetic resonance (MR) imaging is utilised to evaluate the patients with neurofibromatosis type 1 and as an aid in the diagnosis of asymptomatic patients when clinical criteria are not met.

Multifactorial expression of IL-6 with update on COVID-19 and the therapeutic strategies of its blockade (Review).

Interleukin 6 (IL-6), a cytokine produced by various cells of the human body (macrophages, lymphocytes, astrocytes, ischemic myocytes, endothelial cells) has both pro-inflammatory and anti-inflammatory properties, being a key component in regulating various physiologic and pathological processes. The structure of this molecule and the receptor system it possesses are important due to the different activities that IL-6 can exert; through trans-signaling pro-inflammatory activities are mediated, while through classic signaling, IL-6 is responsible for anti-inflammatory and regenerative activities. IL-6 signaling is involved in coronary artery disease and the global COVID-19 pandemic. This proatherogenic cytokine reaches elevated serum levels in the cytokine storm generated by SARS-CoV-2, and is also associated with smoking or obesity-classic cardiovascular risk factors which promote inflammatory states. IL-6 levels are proportionally correlated with dyslipidemia, hypertension and glucose dysregulation, and they are associated with poor outcomes in patients with unstable angina or acute myocardial infarction. IL-6 targeting for treatment development (not only) in cardiovascular disease and COVID-19 is still a matter of ongoing research, although tocilizumab has proven to be effective in reducing the proatherogenic effects of IL-6 and is suggested to improve COVID-19 patient survival.

Fetal axillary lymphangioma diagnosed on a 2D/4D ultrasound second trimester scan - a case report and short literature review.

Fetal lymphangioma, also known as cystic hygroma, is a hamartomatous congenital tumor which involves the fetal skin and the subcutaneous tissue. The most common site of appearance is in the neck region. Location of the lesion in the axilla as well as in other anathomical sites is very rare.Prenatal diagnosis can be made on ultrasound examination. Other structural or chromosomal anomalies are frequently associated with this diagnosis. The antepartum management and type of delivery should be set up by a multidisciplinary team.We present a rare case diagnosed with axillary lymphangioma during the second trimester morphological ultrasound 2D/4D scan.

Influence of phytochemicals in induced psoriasis (Review).

Cytokines involved in pathogenesis of psoriasis such as interleukins (IL-1ß, IL-6, IL-17, IL-22, IL-23), interferon-α, tumor necrosis factor-α and interferon-γ can also become therapeutic targets. Research currently uses murine models of imiquimod-induced psoriatic-type dermatitis in order to analyze potentially helpful phytotherapeutics for psoriasis treatment: Curcuma longa, Aloe vera, Nigella sativa, Rubia cordifolia, Smilax china, Thespesia populnea, Wrightia tinctoria, Scutellaria baicalensis, Cassia tora, Pongamia pinnata and various Chinese herbal formulas. Psoriasis is a chronic inflammatory disease with complex pathogenic mechanisms that yield abnormal immune responses with clinical and morphological echoes (erythematous, scaly plaques with a histopathological basis made up of alterations i.e. keratinocyte aberrant proliferation, parakeratosis or chronic inflammation). The current therapeutic approach has only been able to manage the disease, without ensuring a certified treatment, thus giving rise to the need for better medications. This novel therapeutic approach has shown promising results in preclinical studies, giving hope for future phytochemical animal-based studies.