Ehlers-Danlos Research Articles

Efficacy and Safety of Topical Application of Plant-Based Products on Skin Aging in Healthy Individuals: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Recently, numerous topical products containing plant-based ingredients have been reported to resist skin aging. However, there is a lack of sufficient evidence to substantiate these claims. This paper presents a comprehensive review and meta-analysis to evaluate the efficacy and safety of topical products containing plants or plant extracts in anti-aging. Four databases-PubMed, Embase, Web of Science, and the Cochrane Library (CENTRAL)-were systematically searched for articles related to plant-based interventions and skin aging, covering the period from January 2000 to December 2024. A total of eight randomized controlled trials (RCTs) met the inclusion criteria and were included in the meta-analysis. Products containing plant extracts demonstrated a statistically significant difference in improving skin hydration and skin elasticity, reducing melanin and erythema compared to other products. No significant statistical difference was observed in reducing transepidermal water loss (TEWL). Subgroup analysis revealed a significant statistical difference in improvement overall skin elasticity (R2) during short-term (≤ 8 weeks)treatments, while no statistical difference was observed during long-term (> 8 weeks)treatments. Additionally, no significant difference was observed in the specific measurements of skin elasticity, including R5 (net elasticity) and R7 (the ratio of elastic recovery to total deformation). Regarding safety, no adverse events were reported in six studies, while the remaining two studies did not specify whether adverse events occurred. The meta-analysis results indicated that botanical preparations significantly enhanced skin hydration, reduced melanin levels and erythema, and increased overall skin elasticity. However, the analysis did not provide sufficient evidence to support a reduction in transepidermal water loss (TEWL), or improvements in R5 (net elasticity) and R7 (the ratio of elastic recovery to total deformation). PROSPERO (york.ac.uk) identifier: CRD42023478803.

Autologous Cell-Free Fat Extract: A Novel Approach for Infraorbital Rejuvenation-A Pilot Study.

CEFFE (Cell-free fat extract) treatment for periocular fine lines requires thorough clinical evaluation to determine its efficacy and safety in enhancing skin quality. The research enrolled 10 healthy female participants aged 31-58, focusing on skin texture, elasticity, and barrier function. CEFFE treatment demonstrated significant benefits, with notable improvements observed as early as 3 months posttreatment, which continued throughout the 12-month follow-up period. Objective assessments revealed reductions in SEr% and SEw%, indicative of reduced skin roughness and wrinkles, particularly pronounced after the third month of treatment. Enhanced skin elasticity, as indicated by improvements in R2%, R5%, and R7%, was observed, with the most significant enhancements noted at the 6-month follow-up. Furthermore, TEWL decreased consistently, highlighting CEFFE's potential in maintaining the skin's barrier function and moisture retention. High patient satisfaction levels, with 70% expressing satisfaction ranging from satisfied to very satisfied, underscored CEFFE's clinical significance. CEFFE demonstrates potential as an effective and safe intervention for addressing periocular fine lines, providing a solution for fine lines while ensuring skin health (ChiCTR1900024329).

Evaluating the Effects of Laser Treatments on Visible Changes in the Photoaging Process of the Skin Using Specialized Measuring Devices.

Background/Objectives: The skin is the largest organ of the human body and is exposed to the aging process (not only chronological aging, but also photoaging). One of the methods used to correct visible skin changes due to photoaging is lasers. The aim of this study was to objectively evaluate the effect of Q-switched laser treatments on visible changes in the photoaging process among women using specialized measuring devices-ultrasound and Courage & Khazaka. Methods: The study included 36 women with visible signs of photoaged skin. The women were given a series of three treatments with a Fotona QX MAX fractional head laser. Both before and after the treatment, the women were examined for selected skin parameters with the help of specialized measuring devices such as Courage & Khazaka and skin ultrasound. Skin firmness and elasticity, the degree of hydration, TEWL and HL TOTAL levels, and MEP and HEP skin echogenicity were taken into account. The obtained results were tabulated and statistically analyzed. Results: Statistically significant differences were noted for parameters representing skin elasticity R2 [p = 0.0210] and R7 [p = 0.0302], TEWL [p = 0.0152] and HL TOTAL [p = 0.0367] on the forehead, and HL TOTAL [p = 0.0450] on the cheek. In addition, statistically significant differences were observed in the MEP/TP parameter on the forehead and cheek [p = 0.0236, 0.0475, respectively] and HEP/TP in the forehead area [p = 0.0367]. Conclusions: Q-switched laser treatments have a positive effect on the condition of women's skin. Therapy with this laser reduces the visible changes in the photoaging process in the face.

Efficacy and safety of 5-aminolevulinic acid photodynamic therapy in refractory genital lichen sclerosus

BackgroundGenital lichen sclerosus (GLS) is a chronic inflammatory skin disease affecting the genital and anal areas. Treatment of refractory remains a challenge in clinical practice. ObjectiveThis study aimed to evaluate the efficacy and safety of 5-aminolevulinic acid photodynamic therapy (5-ALA PDT) for refractory GLS. MethodsThirty-five patients with histopathologically confirmed GLS (including 32 females and 3 males) were treated with 5-ALA PDT. Lesion pretreatment was performed to enhance photosensitizer penetration, and fluorescence diagnosis was used for precise point-to-point treatment. Efficacy and safety were systematically evaluated by assessing treatment outcomes, symptom improvement, side effects and maintenance of efficacy over a 6-month follow-up period. ResultsAfter treatment, most patients experienced significant relief of pruritus, improved skin elasticity and color, and reduced lesion area. After 6 treatment sessions, 11 patients (31.43%) achieved complete resolution of pruritus, with 3 patients (8.57%) achieving complete remission after 3 sessions. Cattaneo scores decreased significantly after treatment and during follow-up (P<0.05). Adverse reactions were mainly mild pain, which could be relieved by ice compression or oral analgesics. Conclusions5-ALA PDT shows significant efficacy and good safety for refractory GLS, improving the clinical symptoms and signs of patients, and warrants wider clinical application.

Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks

Genetic variants identified through genome-wide association studies (GWAS) are typically non-coding, exerting small regulatory effects on downstream genes. However, which downstream genes are ultimately impacted and how they confer risk remains mostly unclear. By contrast, variants that cause rare Mendelian diseases are often coding and have a more direct impact on disease development. Here we demonstrate that common and rare genetic diseases can be linked by studying how common disease-associated variants influence gene co-expression in 57 different tissues and cell types. We implemented this method in a framework called Downstreamer and applied it to 88 GWAS traits. We find that predicted downstream “genes” are enriched with Mendelian disease genes, e.g. key genes for height are enriched for genes that cause skeletal abnormalities and Ehlers–Danlos syndromes. 78% of these key genes are located outside of GWAS loci, suggesting that they result from complex trans regulation rather than being impacted by disease-associated variants in cis. Based on our findings, we discuss the challenges in reconstructing gene regulatory networks and provide a roadmap to improve the identification of these highly connected genes linked to common traits and diseases.

A Multicomponent Eye Cream Helps Alleviate Signs of Aging in Indian Women: A Single Center, Non-Randomized Clinical Study

Introduction: The area around the eye shows the first signs of fatigue and aging. The use of suitable topical treatments can help manage the periorbital area. In this study, the efficacy of a multicomponent cream in improving the aesthetics around the eye area was ex-amined in 8 weeks. Methods: The study was a non-comparative, single-blind trial conducted on 50 Indian volun-teers with skin types III and IV for 56 days. The safety and cosmetic acceptability of the eye cream were determined by self-evaluation. The ability of the product to improve skin hydra-tion and elasticity was determined by instrumental analysis and aesthetic features by derma-tologist evaluation. Results: In an 8-week assessment, the use of the eye cream twice daily resulted in improved skin hydration by 55.82% compared to baseline. A significant reduction in the appearance of dark circles under the eye, puffiness, wrinkles, and fine lines was reported. Conclusion: While the skin around the eyes shows early signs of aging, regular use of cosmet-ic creams with active components, such as peptides niacinamide, can lead to significant im-provement in overall aesthetic appearance.

Prevalence of Pain and Impact of Joint Strength on Perceived Physical Function in Pediatric Patients with Ehlers-Danlos Syndrome.

ObjectiveTo identify how pediatric patients with hypermobile Ehlers Danlos syndrome (hEDS) present to physical therapy (PT) and to better understand their musculoskeletal dysfunction. DesignPatients were included in the study if they had a diagnosis of hEDS and at least one completed PT evaluation after diagnosis. A chart review was conducted to assess joint strength and pain characteristics at the initial PT assessment. Physical Function Mobility (PF-Mobility; four domains with 1-5 scale with higher score representative of better physical function) as part of Patient-Reported Outcome Measurement Information System and pain intensity score (visual analog scale, 0-10 scale where a lower number indicates less pain) was completed by participants. SettingMidwestern tertiary care center. ParticipantsSixty-nine participants were included in the study with an average age of 16.4 years (SD 2.8) at the initial PT visit and 96% were female. InterventionNot applicable. Main Outcome measuresJoint strength, pain intensity and location, and PF-Mobility. ResultsThe knee was the most reported location with pain (68%) followed by the shoulder (46%), hip (41%), and back (39%). Average pain intensity was 5.0 (SD 1.8), joint strength scores ranged from 8.2 (SD 0.9) to 9.9 (SD 0.4), and PF-Mobility mean was 3.3 (SD 0.6). No correlation was noted between joint pain intensity and strength at the joint. ConclusionWhile participants perceived poor mobility and significant pain, PT-assessed strength did not reveal significant muscle weakness. Additional work is needed to explore this discrepancy, including altered biomechanics, evaluation methods, and non-musculoskeletal factors such as neuropathic and psychological components,

Impact of vascular Ehlers-Danlos Syndrome-associated Gly substitutions on structure, function, and mechanics using bacterial collagen.

Vascular Ehlers-Danlos syndrome (vEDS) arises from mutations in collagen-III, a major structural component of the extracellular matrix (ECM) in vascularized tissues, including blood vessels. Fibrillar collagens form a triple-helix that is characterized by a canonical (Gly-X-Y)n sequence. The substitution of another amino acid for Gly within this conserved repeating sequence is associated with several hereditary connective tissue disorders, including vEDS. The clinical severity of vEDS depends on the identity of the substituted amino acid and its location. In this study, we engineered recombinant bacterial collagen-like proteins (CLPs) with previously reported Gly→X (X=Ser or Arg) vEDS substitutions within the integrin-binding site. Employing a combination of biophysical techniques, enzymatic digestion assays, integrin binding affinity assays, and computational modeling, we assessed the impact of Gly→X substitutions on structure, stability, function, and mechanical properties. While constructs with Ser or Arg substitutions maintained a triple-helix structure, Arg substitution significantly reduced global thermal stability, heightened susceptibility to trypsin digestion, and altered integrin α2-inserted (α2I) domain binding. Molecular dynamics (MD) simulations also demonstrated distinct effects of different Gly substitutions on the triple-helix structure - Arg substitutions induced notable bulging at the substitution site and disrupted interchain hydrogen bonds compared to Ser substitutions. Additionally, steered MD simulations revealed that Arg substitution led to a significant decrease in Young's modulus of the triple-helix. Bacterial CLPs have proved to be a powerful model for studying the underlying mechanisms of vEDS-causing mutations in collagen-III. Serine and arginine substitutions differentially perturb cell-matrix interactions and ECM in a manner consistent with clinical vEDS severity.

Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts

Background: Dominant mutations in COL3A1 are known to cause vascular Ehlers–Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology and molecular mechanisms. Methods: In this study, we conducted a comprehensive analysis of the intracellular proteome of vEDS fibroblasts, integrating these findings with our previous transcriptome results to identify key molecular pathways that drive the disease. Additionally, we explored the therapeutic potential of inhibiting miR-29b-3p as a proof of concept. Results: Our integrative multi-omics analysis revealed complex pathological networks, emphasizing the critical role of miRNAs, particularly miR-29b-3p, in impairing ECM organization, autophagy, and cellular stress responses, all of which contribute to the pathogenesis of vEDS. Notably, the inhibition of miR-29b-3p in vEDS fibroblasts resulted in the upregulation of several differentially expressed target genes involved in these critical processes, as well as increased protein expression of essential ECM components, such as collagen types V and I. These changes suggest potential therapeutic benefits aimed at improving ECM integrity and restoring intracellular homeostasis. Conclusions: Overall, our findings advance our understanding of the complex biological mechanisms driving vEDS and lay a solid foundation for future research focused on developing targeted and effective treatment strategies for this life-threatening disorder.

Genetic diagnosis of the Ehlers-Danlos syndromes.

The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility.

Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective

Abstract The monogenic Ehlers – Danlos syndromes (EDS) constitute a clinically and genetically heterogenous group of connective tissue disorders with overlapping features of generalized joint hypermobility, skin hyperextensibility and tissue fragility. Vascular complications can be observed in several EDS types, but generalized tissue fragility resulting in significant increased risk on vascular events from a young age are a major clinical characteristic of vascular Ehlers – Danlos (vEDS, former Type IV). This is a rare, monogenic EDS type, with a suspected prevalence of 1:50 000. Even though progress regarding awareness and management of vEDS has been made, further studies are needed regarding optimal treatment and follow up. In this manuscript we present the perspective of a vascular surgeon regarding the current literature to management and treatment options for vascular complications in vEDS.

Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.

Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance.

Effects of milk powder fortified with red ginseng extracts on the skin barrier function and immunity of middle-aged women

This study investigated the effects of a nutritional milk composition containing red ginseng extract (MCCRG) on the skin barrier function and immunity of middle-aged women. Fifty women (aged, 25 to 45) consumed MCCRG orally for 56 days. Evaluations of skin phenotype, facial bacterial microbiome, immune system function, and clinical diagnoses were conducted. The results indicated that MCCRG significantly improved skin hydration, firmness, elasticity, and glossiness. Furthermore, MCCRG also reduced TEWL and wrinkles and enhanced skin barrier integrity. Additionally, high IgG levels and improved CD4+/CD8+ ratios due to MCCRG consumption increased facial microbiota diversity and immune function. Clinical diagnoses provided supplementary evidence for the efficacy of MCCRG. The findings of this study demonstrated that MCCRG, through nutritional support, enhanced both skin barrier and immune system functions. This study offers substantial evidence of the innovative therapeutic effects of nutritional support on skin barrier damage and immune function.

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.

With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored. In addition, new structural/functional investigations that could deliver evidence towards pathogenicity are discussed. It appears that certain functional and/or structural investigations used frequently in the past can remain helpful and can provide additional evidence that may confirm a clinical diagnosis of a monogenic EDS type. However, there is a need for the development of novel structural/functional studies for monogenic types of EDS. The level of evidence of such studies for application in the established diagnostic DNA variant classification criteria remains to be determined.

Coexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis.

The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis. We report a 27-year-old woman, smoker and regular consumer of energy drinks, with a medical history of subclinical hypothyroidism, minor thalassemia, recurrent joint sprains, high myopia, and anterior mitral valve prolapse, who was diagnosed with both vEDS and SPS type I. The patient experienced a catastrophic progression over a short time period, marked by numerous thrombotic and bleeding episodes, ultimately leading to a fatal outcome. This report documents the first known case of concurrent vEDS and SPS, highlighting the complexity and challenges in the management of these two rare conditions together. The interplay between these syndromes necessitates careful clinical consideration and the development of tailored management strategies to mitigate associated risks. This underscores the crucial role of the internist in overseeing such cases. Further studies are needed to explore new therapeutic strategies aimed at improving survival rates and outcomes for patients with this unique combination of disorders. The coexistence of vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) creates a unique clinical scenario where the underlying connective tissue weakness and platelet hyperaggregability synergistically increase the risk of both thrombotic and haemorrhagic events, complicating management strategies.Internists must assume a pivotal role in the integrated management of patients with vEDS and SPS, facilitating a multidisciplinary strategy that not only addresses the dual risk of thromboembolic and haemorrhagic complications but also emphasizes the importance of personalized treatment algorithms and ongoing surveillance to optimize long-term outcomes.

The current state and prospects of peptides use in cosmeceuticals

Aim. To analyze the range of peptides in cosmeceuticals. Materials and methods. The study materials were publications in scientific periodicals. The study used methods of content analysis, comparative, logical, analytical methods and generalization of information. Results. The analysis of scientific literature data has shown that bioactive peptides of various origins are widely used as active ingredients in cosmeceuticals. In 2022, the global market for the synthesis of cosmetic peptides was estimated in 195.3 million USD. The market is expanding due to the growing consumer demand for skin care and anti-ageing products. Consumers are shifting towards a holistic approach to beauty, appreciating products that not only provide instant results, but also support the skin’s natural processes. Peptides, with their various benefits, perfectly match this approach by promoting skin elasticity from the inside, providing a long-lasting positive result. Peptides can be used to address specific skin problems, such as hyperpigmentation, acne and inflammation. According to the mechanism of action, biologically active peptides are classified as carrier peptides, signal peptides, neurotransmitter inhibitor peptides and enzyme inhibitor peptides. Carrier peptides facilitate the transport of cofactors, such as copper and manganese, across the skin barrier. Both cofactors are essential for enzymatic reactions involved in preventing aging and wound healing. Copper tripeptide-1 and manganese tripeptide-1 are examples of carrier peptides that have been successfully used to reduce fine lines, wrinkles and hyperpigmentation associated with photoaging. Signal peptides or matrikines are derived from extracellular matrix proteins, such as collagen, elastin and fibronectin. Matrikines interact with specific receptors that stimulate the synthesis, repair and remodeling of the extracellular matrix. These peptides also regulate the activity of certain key enzymes involved in the aging process, such as collagenase, elastase, tyrosinase and hyaluronidase. Neurotransmitter inhibitor peptides are the latest cosmeceutical peptides. Similar to botulinum toxins, these peptides prevent the release of acetylcholine, a neurotransmitter responsible for muscle contraction. Inhibiting this process relaxes facial muscles, preventing the formation of fine lines and wrinkles. Neurotransmitter inhibitor peptides are a safer alternative to traditional botulinum toxin treatment with fewer potential side effects. Enzyme inhibitor peptides have become popular active ingredients in anti-ageing cosmetics. This class of peptides inhibits the activity of certain enzymes involved in various biochemical processes of the skin. Their application in cosmeceuticals is to control or inhibit those processes that cause skin damage, aging or loss of elasticity. Conclusions. The study of peptides for use in cosmeceuticals has opened new prospects in skin care and aesthetic medicine. Bioactive peptides of various origins – from plants, animals, marine organisms, and edible insects – exhibit a wide range of properties, including antiaging, antioxidant, anti-inflammatory, and antimicrobial effects. Peptides open new horizons in the creation of innovative cosmeceuticals, especially when combined with other active components, such as antioxidants or retinoids. Their safety, ability to biodegrade and spot impact make peptides an attractive ingredient for solving various dermatological problems without the side effects of more aggressive skin correction methods.

Research on the Correlation Between Skin Elasticity Evaluation Parameters and Age

This study aims to explore the impact of aging on skin elasticity, a key biomechanical property that diminishes over time, using the Cutometer to assess viscoelastic parameters. Methods: Researchers analyzed 22 viscoelastic parameters from the facial skin of 60 women aged 18 to 70. Key Results: The findings indicate that relaxation phase parameters, particularly biological elasticity (R7), exhibited the strongest negative correlation with age (r = −0.62), signifying a notable decline in biological elasticity as women age. In contrast, maximum deformation during the first cycle (R0) and the total area under the upper curve after 10 cycles of deformation (F4) also showed significant negative correlations with age (r = −0.47, r = −0.48), suggesting that younger skin typically presents higher values. These correlations raise questions regarding practical applications, as the presence of moisturizers and emollients may alter the stratum corneum’s properties, thus impacting these measurements. Additionally, the ratio of delayed deformation to instantaneous deformation (R6) demonstrated a positive correlation with age (r = 0.49), indicating its potential as a marker for skin aging. Conclusions: This study highlights the critical role of relaxation phase parameters in accurately reflecting skin elasticity changes associated with aging. The results offer valuable insights for evaluating cosmetic efficacy, reinforcing the need for a nuanced understanding of how various parameters interact. These findings contribute to the ongoing development of more effective anti-aging treatments and products.

Rapid Aneurysmal Degeneration and Repair of Thoracic Aortic Aneurysm in a Patient with Concomitant Vascular Ehlers-Danlos and Loeys-Dietz Syndromes.

Vascular Ehlers-Danlos (vEDS) and Loeys-Dietz syndrome 3 (LDS3) are connective tissue disorders with diverse systemic manifestations. Most notable in these disorders, though, are their aggressive aortopathies, often presenting early in life with aneurysmal disease or dissection. Herein we present the case of a 33-year-old patient, previously lost to follow-up, who underwent complex reoperative arch replacement after ascending and hemiarch replacement for Type A aortic dissection 6 years prior. Postoperative genetic testing revealed both vEDS and LDS, a unique genotype that has not been described before in the literature.

EFICÁCIA DO ULTRASSOM MICROFOCADO PONTUAL NO REJUVENESCIMENTO E REPOSICIONAMENTO FACIAL: RELATO DE CASO

Skin aging is characterized by several changes in various tissues, including loss of collagen, redistribution of subcutaneous fat, bone resorption and subsequent remodeling of the jaws, and weakening of the Superficial Muscular Aponeurotic System (SMAS). HIFU microfocused ultrasound is described as a non-invasive treatment option for facial sagging and aging treatment, this technique is capable of producing controlled thermal coagulation points in the papillary, reticular dermis and Superficial Muscular Aponeurotic System (SMAS), causing immediate contraction, thereby inducing the production of collagen and tightening of the skin, obtaining results similar to a surgical lifting. We report a case in which the HIFU technique was used, using precise and effective equipment, which showed immediate results with gradual improvement, repositioning the tissue, restoring the contour, elasticity, sagging and general appearance of the patient's skin.

A Systematic Review of the Association of Elastosis Perforans Serpiginosa and Congenital Disorders

Background: Elastosis perforans serpiginosa (EPS) is a skin condition marked by transepidermal elimination of abnormal elastic fibers, with a classical presentation of papules or plaques arranged in serpiginous, annular, or arcuate patterns on the neck, face, arms, or other flexural regions. A previous review of the literature reported that approximately 1/4 of EPS cases are associated with congenital disorders, including Down syndrome, Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, and pseudoxanthoma elasticum. To the knowledge of these authors, no review examining the association of EPS and congenital disorders has been performed since 1968. Objective: The primary objective of this paper is to perform an updated review of the literature focused on the associations between EPS and congenital disorders. Methods: We searched electronic databases (Medline, Web of Science, PubMed) for literature pertaining to EPS and Down syndrome, Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, and pseudoxanthoma elasticum. Results: Evidence for the association of EPS and congenital disorders is 57 cases from 48 published papers. Conclusions: Our results suggest an association between EPS and congenital disorders. However, current evidence is limited to case reports, underscoring the need for future research investigating the relationship between EPS and congenital disorders.