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1.
J Cutan Aesthet Surg ; 17(2): 137-145, 2024.
Article in English | MEDLINE | ID: mdl-38800810

ABSTRACT

Context: Scarring is a biological process of wound repair which leads to a difference in the normal structure and function of the skin and manifests as a depressed or raised area. Treatment of scars is challenging. A number of therapeutic approaches like surgical techniques and non-surgical techniques are performed to improve scarring. Aims and Objectives: The aim of this study was to compare the outcome of subcision followed by microneedling versus subcision followed by microneedling and topical platelet-rich plasma (PRP) in atrophic scars. Materials and Methods: A comparative prospective study was conducted at a tertiary care hospital in North India to compare the efficacy of subcision followed by microneedling versus subcision followed by microneedling and topical PRP. A total of 40 cases were taken and were randomly divided into two groups, A and B of 20 patients in each group. Topical PRP was applied as an additional therapy in Group B in the same sitting. Minimum three sittings were done in each patient at an interval of 4 weeks and results were assessed after 1 month of the third session. The statistical software used is Microsoft Excel and SPSS software program, version 24.0 for analysis of data and Microsoft Word to generate graphs and tables. Results: Improvement in scar grading was more in Group B as compared to Group A with statistically significant difference (P = 0.032). There was an improvement in scar grading from grade 4 scar to grade 2 in 15% and 30% patients of Groups A and B, respectively, with improvement in skin texture and pigmentation more in Group B. Conclusion: PRP proved to add to the improvement of grade of atrophic scars when combined with subcision and microneedling.

2.
J Cosmet Dermatol ; 2024 May 21.
Article in English | MEDLINE | ID: mdl-38770894

ABSTRACT

BACKGROUND: A combination of fractional CO2 laser and subcision is usually employed for the treatment of post-acne atrophic scars. However, the efficacy and safety of both simultaneous and sequential combination therapies should be explored. AIMS: To compare the efficacy and safety of simultaneous and sequential fractional CO2 laser and subcision combination therapies for post-acne atrophic scars. PATIENTS AND METHODS: This single-blind, split-face clinical trial included 34 patients with post-acne atrophic scars at our institution. Each patient underwent three sessions of subcision combined with fractional CO2 laser, with a 1-month interval between each session. The left side of the face was treated with simultaneous combination therapy, whereas the right side was treated with sequential combination therapy. Treatment efficacy was assessed at 4, 8, and 12 weeks; and 3 and 6 months after the last session. RESULTS: Simultaneous and sequential treatments demonstrated comparable efficacy. Regarding the adverse events, the side of the face undergoing simultaneous treatment experienced longer swelling duration, higher pain levels during laser treatment, and shorter downtime. CONCLUSIONS: Despite the longer swelling time and higher pain levels during laser treatment in the simultaneous treatment side, the effectiveness and satisfaction level of the CO2 fractional laser and subcision for treatment of the acne scars were comparable between the two combinations, with a shorter downtime for the simultaneous than for the sequential combination therapy.

3.
Lasers Med Sci ; 39(1): 89, 2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38453744

ABSTRACT

Various treatment modalities have been applied to atrophic scars. Fractional CO2 laser treatment has attracted increasingly more attention because of its quicker recovery time and fewer side effects. However, its limitation of sculpting the edge is an urgent shortcoming. In order to achieve a more effective result with fewer complications, we have integrated ultrapulse CO2 and fractional CO2 lasers to for the treatment of facial atrophic scars. The study included 25 patients (10 males and 15 females) diagnosed with moderate to severe atrophic scars between August 2020 and July 2022. All subjects underwent the same surgical treatment. The effects were assessed at baseline, 1 week, 1 month, and 3 months using photographic evidence. Objective evaluation of the results was conducted using a quartile grading scale, while the subjects' satisfaction and any adverse events were also recorded. The patients in the study underwent more than two laser sessions (2-5), resulting in substantial improvement in their appearance. The time interval between each session was 3-6 months. The majority of the patients (19/25, 76%) had a significant or even excellent improvement. Any adverse events observed, such as erythema, superficial crusting, and PIH, were of a mild nature and temporary in duration. This treatment combined two CO2 lasers is an effective and safe choice for atrophic scars in Asians.


Subject(s)
Acne Vulgaris , Lasers, Gas , Male , Female , Humans , Cicatrix/pathology , Carbon Dioxide , Treatment Outcome , Acne Vulgaris/complications , Erythema/etiology , Lasers, Gas/therapeutic use , Atrophy/complications
5.
JMIR Dermatol ; 7: e49954, 2024 Feb 21.
Article in English | MEDLINE | ID: mdl-38381492

ABSTRACT

Acne scarring is a frequent complication of acne. Scars negatively impact psychosocial and physical well-being. Optimal treatments significantly improve the appearance, quality of life, and self-esteem of people with scarring. A wide range of interventions have been proposed for acne scars. This narrative review aimed to focus on facial atrophic scarring interventions. The management of acne scarring includes various types of resurfacing (chemical peels, lasers, and dermabrasion); the use of injectable fillers; and surgical methods, such as needling, punch excision, punch elevation, or subcision. Since the scarred tissue has impaired regeneration abilities, the future implementation of stem or progenitor regenerative medical techniques is likely to add considerable value. There are limited randomized controlled trials that aimed to determine which treatment options should be considered the gold standard. Combining interventions would likely produce more benefit compared to the implementation of a single method.

6.
J Clin Med ; 13(2)2024 Jan 13.
Article in English | MEDLINE | ID: mdl-38256575

ABSTRACT

Acne scars, particularly atrophic ones, present a persistent challenge in cosmetic medicine and surgery, requiring extended and multifaceted treatment approaches. Poly-(lactic acid) injectable fillers show promise in managing atrophic acne scars by stimulating collagen synthesis. However, the utilization of needle-free injectors for delivering poly-(lactic acid) into scars remains an area requiring further exploration. In this article, a summary of the latest advancements in needle-free jet injectors is provided, specifically highlighting the variations in jet-producing mechanisms. This summary emphasizes the differences in how these mechanisms operate, offering insights into the evolving technology behind needle-free injection systems. The literature review revealed documented cases focusing on treating atrophic acne scars using intralesional poly-(lactic acid) injections. The results of these clinical studies could be supported by separate in vitro and animal studies, elucidating the feasible pathways through which this treatment operates. However, there is limited information on the use of needle-free jet injectors for the intradermal delivery of poly-(lactic acid). Clinical cases of atrophic acne scar treatment are presented to explore this novel treatment concept, the needle-free delivery of poly-(lactic acid) using a jet pressure-based injector. The treatment demonstrated efficacy with minimal adverse effects, suggesting its potential for scar treatment. The clinical efficacy was supported by histological evidence obtained from cadaver skin, demonstrating an even distribution of injected particles in all layers of the dermis. In conclusion, we suggest that novel needle-free injectors offer advantages in precision and reduce patient discomfort, contributing to scar improvement and skin rejuvenation. Further comprehensive studies are warranted to substantiate these findings and ascertain the efficacy of this approach in scar treatment on a larger scale.

7.
Arch Dermatol Res ; 316(1): 19, 2023 Dec 07.
Article in English | MEDLINE | ID: mdl-38059974

ABSTRACT

Atrophic acne scars are the most common type of acne scars and are classified into three main types: icepick, boxcar, and rolling scars. Various procedures and techniques for atrophic acne scarring are discussed in detail, with stronger evidence-based support for lasers (non-fractional, fractional, ablative, and non-ablative), platelet-rich plasma as adjunctive treatment, chemical peels (glycolic acid, trichloroacetic acid, and Jessner's solution), dermal fillers such as hyaluronic acid, and microneedling, and lesser quality evidence for microdermabrasion, subcision, and lipoaspirate grafting. Further research is needed to optimize treatment protocols, assess the efficacy of monotherapies, and establish standardized guidelines for clinicians. This paper will provide a comprehensive review of the evidence-based management of atrophic acne scars, including currently commonly utilized therapies as well as more innovative treatment options.


Subject(s)
Acne Vulgaris , Chemexfoliation , Dermatology , Humans , Cicatrix/etiology , Cicatrix/therapy , Cicatrix/pathology , Acne Vulgaris/complications , Acne Vulgaris/therapy , Chemexfoliation/methods , Combined Modality Therapy , Atrophy/therapy , Treatment Outcome
8.
Medicina (Kaunas) ; 59(11)2023 Nov 15.
Article in English | MEDLINE | ID: mdl-38004061

ABSTRACT

Background and Objectives: Acne scars are one of the most disturbing and long-term symptoms of acne vulgaris, having a negative impact on a person's physical, emotional, and social well-being. Aim: the purpose of the study was to evaluate the efficacy and post-treatment outcomes of a dual-wavelength system combining the irradiation of two wavelengths at 10,600 nm and 1540 nm in the management of facial atrophic acne scars. Materials and Methods: Four healthy adult volunteers aged 24-53 years were enrolled. The areas treated were the full face (two patients), cheeks (one patient), and forehead (one patient). A dual-wavelength system (1540 nm and 10,600 nm) was used for this study. Patients underwent 2-4 treatment sessions, and the treatments were performed once every 45-90 days. All possible side effects such as burning sensation, dyschromia, mild to moderate post-treatment erythema, bleeding, itching, edema, and crusting were checked. The index to assess edema and erythema was based on a four-point scale (none, mild, moderate, and severe) and was applied before and at 3-month follow-up (3 MFU) after the last treatment session. In addition, a patient assessment was conducted before treatment and at 3 MFU after the last treatment session. Results: For all patients examined, the edema index was mild, while for the erythema index, 3/4 patients experienced moderate and 1/4 patients experienced mild symptoms. The mean patient downtime was 5.8 ± 0.5 days. Concerning the patient assessment, 2/4 subjects showed excellent improvement, 1/4 patients showed good improvement, and 1/4 patients showed slight improvement. As shown by the photographic assessment, a noticeable improvement in skin texture and a substantial reduction in acne scars were observed at the end of treatment. Conclusions: This dual-wavelength laser technology has the potential to be an interesting and safe approach for acne scar treatment, with a low risk of scarring/hypopigmentation and a shorter healing time.


Subject(s)
Acne Vulgaris , Cicatrix , Adult , Humans , Cicatrix/etiology , Cicatrix/surgery , Pilot Projects , Treatment Outcome , Acne Vulgaris/complications , Erythema , Atrophy , Edema
9.
J Dermatol ; 50(12): 1513-1522, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37665181

ABSTRACT

Maintenance therapy after remission of inflammation is strongly recommended in the guideline for the treatment of acne vulgaris published by the Japanese Dermatological Association. One advantage of continuing maintenance therapy is the alleviation of atrophic scarring. This study investigated the efficacy of maintenance therapy using adapalene 0.1%/benzoyl peroxide 2.5% gel and benzoyl peroxide 2.5% gel, and its effects on atrophic scarring. Overall, 126 patients were randomized to the adapalene/benzoyl peroxide group (n = 40), benzoyl peroxide group (n = 44), and control group (without maintenance treatment drugs; n = 42), and 111 of these completed a trial lasting 24 weeks. As the primary endpoint, the treatment success rate (the percentage of patients in whom the number of inflammatory lesions was maintained at ≤10) was 89.2% in the adapalene/benzoyl peroxide group, 87.5% in the benzoyl peroxide group, and 47.4% in the control group. Compared with the control group, the success rates were significantly higher in the adapalene/benzoyl peroxide and benzoyl peroxide groups (P = 0.0006 for both). As one of the secondary endpoints, the rate of change in the number of atrophic scars showed significant improvement from the baseline in the adapalene/benzoyl peroxide and benzoyl peroxide groups at week 24 (P = 0.0004 and P < 0.0001, respectively). Although the three-dimensional image analysis parameters did not change significantly from the baseline in the adapalene/benzoyl peroxide and benzoyl peroxide groups at week 24, significant worsening was noted in the control group (P = 0.0276 for affected area, P = 0.0445 for volume, and P = 0.0182 for maximum depth). Adverse drug reactions were noted in three patients in the adapalene/benzoyl peroxide group (7.5%) but not in the benzoyl peroxide group. These findings suggest that maintenance therapy using adapalene 0.1%/benzoyl peroxide 2.5% gel and benzoyl peroxide 2.5% gel is effective in preventing the worsening of scars in Japanese patients with acne vulgaris.


Subject(s)
Acne Vulgaris , Adapalene, Benzoyl Peroxide Drug Combination , Connective Tissue Diseases , Dermatologic Agents , Humans , Adapalene/therapeutic use , Benzoyl Peroxide/therapeutic use , Cicatrix/drug therapy , Cicatrix/etiology , Cicatrix/pathology , Dermatologic Agents/therapeutic use , Imaging, Three-Dimensional , Administration, Cutaneous , Gels/therapeutic use , Acne Vulgaris/complications , Acne Vulgaris/drug therapy , Acne Vulgaris/chemically induced , Adapalene, Benzoyl Peroxide Drug Combination/adverse effects , Treatment Outcome , Connective Tissue Diseases/chemically induced , Connective Tissue Diseases/complications , Connective Tissue Diseases/drug therapy , Atrophy/chemically induced , Drug Combinations
10.
J Clin Med ; 11(10)2022 May 12.
Article in English | MEDLINE | ID: mdl-35628870

ABSTRACT

Acne vulgaris is a chronic skin disease that, depending on its course, is characterized by the occurrence of various skin eruptions such as open and closed comedones, pustules, papules, and cysts. Incorrectly selected treatment or the presence of severe acne vulgaris can lead to the formation of atrophic scars. In this review, we summarize current knowledge on acne scars and methods for their improvement. There are three types of atrophic scars: icepick, rolling, and boxcar. They are of different depths and widths and have different cross-sections. Scars can combine to form clusters. If acne scars are located on the face, they can reduce the patient's quality of life, leading to isolation and depression. There are multiple effective modalities to treat acne scars. Ablative lasers, radiofrequency, micro-needling, and pilings with trichloroacetic acid have very good treatment results. Contemporary dermatology and cosmetology use treatments that cause minimal side effects, so the patient can return to daily functioning shortly after treatment. Proper dermatological treatment and skincare, as well as the rapid implementation of cosmetological treatments, will certainly achieve satisfactory results in reducing atrophic scars.

11.
J Cosmet Dermatol ; 21(11): 6010-6020, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35546288

ABSTRACT

BACKGROUND: Wound healing is a multi-phased process. A disruption in these phases could result in a persistent wound or an atypical scar. Wounding activates wingless proteins (Wnt) signaling, which aids in the healing process. Axis inhibition protein-2 regulates a variety of cellular activities through the Wnt and other pathways. AIM: To assess the role of Axin-2 in patients with abnormal scars, using immunohistochemical study. METHODS: This case-control study enrolled a total of 60 participants: 30 patients with abnormal scars (12 hypertrophic scars, 13 atrophic scars, and 5 keloid scars) and 30 age, sex, and site matched, apparently healthy controls. For immunohistochemistry examination of Axin-2 expression, skin samples were obtained from (i) lesional and (ii) perilesional skin of patients with aberrant scars, as well as (iii) normal control's skin. RESULTS: Epidermal Axin-2 expression positivity, cellular topography, intensity, and H score showed significant differences between the groups (p < 0.05). In the dermis (fibroblast/myofibroblast), there were significant differences in Axin-2 expression positivity, location, intensity, and H score (p < 0.001 for all). The epidermal Axin-2 H score and the Manchester scale had a significant positive correlation (r = 0.832, p = 0.001). The epidermal Axin-2 H score and age (r = -0.576, p = 0.001), and the Stony Brook scale (r = -0.419, p = 0.021), had significant negative correlations. CONCLUSION: Axin-2 overexpression might be accused in pathogenesis of abnormal scar and clinical worse scar outcome. In order to deprive scars of their regenerative cell pools, future scar therapies may target Axin-2 as a stem cell marker.


Subject(s)
Axin Protein , Cicatrix, Hypertrophic , Keloid , Humans , Case-Control Studies , Cicatrix, Hypertrophic/pathology , Keloid/pathology , Prognosis , Stem Cells/metabolism
12.
JAAD Int ; 6: 43-50, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35005652

ABSTRACT

BACKGROUND: Most people with acne are at risk of developing acne scars, but the impact of these scars on patients' quality of life is poorly researched. OBJECTIVE: To assess the perspective of patients with acne scars and the impact of these scars on their emotional well-being and social functioning. METHODS: A 60-minute interview of 30 adults with acne scars informed and contextualized the development of a cross-sectional survey of 723 adults with atrophic acne scars. RESULTS: The main themes identified in the qualitative interviews included acceptability to self and others, social functioning, and emotional well-being. In the cross-sectional survey, 31.6%, 49.6%, and 18.8% of the participants had mild, moderate, and severe/very severe acne scarring. The survey revealed that 25.7% of the participants felt less attractive, 27.5% were embarrassed or self-conscious because of their scars, 8.3% reported being verbally and/or physically abused because of their scars on a regular basis, and 15.9% felt that they were unfairly dismissed from work. In addition, 37.5% of the participants believed that their scars affected people's perceptions about them, and 19.7% of the participants were very bothered about hiding their scars daily. Moreover, 35.5% of the participants avoided public appearances, and 43.2% felt that their scars had negatively impacted their relationships. LIMITATIONS: The temporal evaluation of the impact was not estimated. CONCLUSION: Even mild atrophic acne scarring can evoke substantial emotional, social, and functional concerns.

13.
J Prim Care Community Health ; 13: 21501319221074117, 2022.
Article in English | MEDLINE | ID: mdl-35098785

ABSTRACT

INTRODUCTION/OBJECTIVES: Acne is present in about 90% of teenagers and 12% to 14% of adults. Face and trunk are the most affected areas. Lesions can result in postinflammatory hyperpigmentation and scarring, leading to reduced quality of life. Asynchronous teledermatology has been increasingly used around the world, facilitating patient access to dermatologists. Our objectives were to assess: (1) clinical features of acne patients according to gender, age, severity, site of lesions, excoriation, postinflammatory hyperpigmentation (PIH), and atrophic scar (AS) and (2) how many referrals to in-person consultations with dermatologists could be avoided using asynchronous teledermatology in primary care attention? METHODS: We analyzed images, demographic and clinical data of 2459 acne patients assisted by teledermatology, with the aim to confirm the diagnoses, to classify acne severity according to grades I to IV, and to search for the presence of postinflammatory hyperpigmentation, atrophic scars, and/or excoriated acne (EA). We compared the clinical and biological data, looking for associations among them. RESULTS: Acne severity and age were associated with the most common sequels: postinflammatory hyperpigmentation (mainly on the trunk and in females, P < .0001) and atrophic scars (mainly on the face and in males, P < .0001). We also observed different frequencies according to age and sex: 13 to 24 years in males (P = .0023); and <12 (P = .0023) and 25 to 64 years old (P <.0001) for females; 68% of the patients had no need for in-person dermatologists' referral, being kept at primary care attention with proper diagnosis and treatment. CONCLUSION: Clinical features of acne and its sequels differ according to gender, age, site, and severity. The new findings of PIH associated with women and AS, with men, may help offer a more personalized management to patients. Teledermatology was suitable for the majority of the acne cases in primary care.


Subject(s)
Acne Vulgaris , Hyperpigmentation , Acne Vulgaris/complications , Acne Vulgaris/diagnosis , Adolescent , Adult , Cicatrix/complications , Cicatrix/etiology , Female , Humans , Hyperpigmentation/complications , Hyperpigmentation/diagnosis , Male , Primary Health Care , Quality of Life , Treatment Outcome
14.
J Cosmet Dermatol ; 21(1): 327-330, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34773721

ABSTRACT

BACKGROUND: The Chemical Reconstruction of Skin Scars (CROSS) technique was first described in 2002 and has since demonstrated safety and efficacy in multiple studies. We describe the treatment of six patients with a modified version of the CROSS method-the Painting CROSS trichloroacetic acid (TCA) technique. This technique has the advantage of offering even higher tissue selectivity and better control of the scar edges, enhancing both safety and efficacy. METHODS: We retrospectively evaluated 31 scars of six patients who underwent a single treatment by the Painting CROSS TCA method. A 0.3 ml insulin syringe with a 30-gauge needle was filled with 0.05 ml of 85% TCA solution and then applied to the scar base with slight pressure until frosting was achieved. Patients were evaluated before and 3 months after treatment for scar volume deficit by a high-resolution three-dimensional imaging system. RESULTS: The average volume of the 31 scars assessed in our study was 2.71 mm3 before treatment and 1.96 mm3 after treatment. There was a 26.3% average decrease in the volume of the scars after one treatment. Transient mild hyperpigmentation was noted in two patients after the treatment. CONCLUSION: Painting CROSS TCA technique has demonstrated efficacy in the treatment of acne scars after a single treatment.


Subject(s)
Acne Vulgaris , Trichloroacetic Acid , Acne Vulgaris/complications , Cicatrix/etiology , Cicatrix/pathology , Humans , Retrospective Studies , Treatment Outcome , Trichloroacetic Acid/therapeutic use
15.
Clin Dermatol ; 39(6): 1018-1024, 2021.
Article in English | MEDLINE | ID: mdl-34920819

ABSTRACT

Acne scars represent a therapeutic dilemma. This study aimed to evaluate the efficacy of combined subcision, autologous platelet-rich plasma (PRP), and chemical reconstruction of skin scars (CROSS) technique in the treatment of acne scars. In 20 patients with atrophic acne scars, one facial side was treated with subcision plus PRP, and the other was treated with the same combination plus CROSS technique (trichloroacetic acid 50%) for 3 sessions at 3-week intervals. Clinical evaluation, digital photography, quantitative global scarring grading system, and Lipper and Perez score were done at baseline, every session, and 1 month after the last session. Participants assessed their improvement at the end of the follow-up period using a scale (0 to 10). There was a significant reduction in quantitative global scarring grading system (P < .001) and Lipper and Perez score (P < .001) after treatment compared with baseline in both sides. No significant difference was found when the two treated sides were compared after treatment by both scores. Patients' satisfaction was excellent (12 patients [60%]) and good (eight patients [40%]) with no significant difference between both sides. In conclusion, combined subcision and PRP is recommended for acne scars. Adding CROSS technique (trichloroacetic acid 50%) did not further ameliorate the condition.


Subject(s)
Acne Vulgaris , Platelet-Rich Plasma , Acne Vulgaris/complications , Cicatrix/etiology , Cicatrix/therapy , Humans , Prospective Studies
16.
17.
Lasers Surg Med ; 53(8): 1043-1049, 2021 10.
Article in English | MEDLINE | ID: mdl-33389766

ABSTRACT

BACKGROUND AND OBJECTIVE: We evaluated a new handheld stereoscopic imaging system capable of visualizing scars with digital three-dimensional (3D) models and providing automated morphometric estimates. The objective was to validate the repeatability and accuracy of intra- and inter-investigator scan results. STUDY DESIGN/MATERIALS AND METHODS: Engineered metal plates with depressed and elevated model scars (n = 72) were scanned six times by one investigator. In vivo hypertrophic and atrophic scars (n = 15) were scanned once by three investigators. The repeatability of morphometric estimates was assessed using coefficients of variation (CVs) to compare the variation among multiple scan results for both models and in vivo scars, with 0% reflecting a perfect match. Scar estimates from digital 3D reconstructions were compared with the known dimensions of physical model scars and with ruler measurements of in vivo scars. RESULTS: A total of 48 model scars and 12 in vivo scars were eligible for automated analyses with the imaging system's proprietary software. Intra-investigator scan results for the model scars were repeatable, with low variance for all parameters: volume, area, length, and depth/height (CV: 1.8-3.1%). By comparison, inter-investigator scans of real in vivo scars resulted in slightly higher median CVs (4.4-7.3%; P < 0.05). 3D model scar estimates correlated well with the known physical dimensions of model scars for all parameters (P < 0.001) and accurately reflected the measurements of in vivo scars (P < 0.001). The six in vivo scars situated on the chest and abdomen showed the highest inter-investigator variation, due to respiratory movement artifacts. CONCLUSION: Stereoscopic imaging of scars generates accurate and repeatable measurement estimates that show little intra- and inter-investigator-based assessment variation. The best results are achieved by minimizing subject movement. Lasers Surg. Med. © 2020 Wiley Periodicals LLC.


Subject(s)
Cicatrix , Imaging, Three-Dimensional , Cicatrix/diagnostic imaging , Cicatrix/etiology , Cicatrix/pathology , Humans
18.
Orphanet J Rare Dis ; 15(1): 197, 2020 07 31.
Article in English | MEDLINE | ID: mdl-32736638

ABSTRACT

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Classical EDS (cEDS) is principally caused by heterozygous COL5A1 or COL5A2 variants and rarely by the COL1A1 p.(Arg312Cys) substitution. Current major criteria are (1) skin hyperextensibility plus atrophic scars and (2) generalized joint hypermobility (gJHM). Minor criteria include additional mucocutaneous signs, epicanthal folds, gJHM complications, and an affected first-degree relative. Minimal criteria prompting molecular testing are major criterion 1 plus either major criterion 2 or 3 minor criteria. In addition to these features, the clinical picture also involves multiple organ systems, but large-scale cohort studies are still missing. This study aimed to investigate the multisystemic involvement and natural history of cEDS through a cross-sectional study on a cohort of 75 molecularly confirmed patients evaluated from 2010 to 2019 in a tertiary referral center. The diagnostic criteria, additional mucocutaneous, osteoarticular, musculoskeletal, cardiovascular, gastrointestinal, uro-gynecological, neuropsychiatric, and atopic issues, and facial/ocular features were ascertained, and feature rates compared by sex and age. RESULTS: Our study confirms that cEDS is mainly characterized by cutaneous and articular involvement, though none of their hallmarks was represented in all cases and suggests a milder multisystemic involvement and a more favorable natural history compared to other EDS subtypes. Abnormal scarring was the most frequent and characteristic sign, skin hyperextensibility and gJHM were less common, all without any sex and age bias; joint instability complications were more recurrent in adults. Some orthopedic features showed a high prevalence, whereas the other issues related to the investigated organ systems were less recurrent with few exceptions and age-related differences. CONCLUSIONS: Our findings define the diagnostic relevance of cutaneous and articular features and additional clinical signs associated to cEDS. Furthermore, our data suggest an update of the current EDS nosology concerning scarring that should be considered separately from skin hyperextensibility and that the clinical diagnosis of cEDS may be enhanced by the accurate evaluation of orthopedic manifestations at all ages, faciocutaneous indicators in children, and some acquired traits related to joint instability complications, premature skin aging, and patterning of abnormal scarring in older individuals.


Subject(s)
Ehlers-Danlos Syndrome , Skin Abnormalities , Adult , Aged , Child , Cohort Studies , Cross-Sectional Studies , Ehlers-Danlos Syndrome/diagnosis , Ehlers-Danlos Syndrome/genetics , Humans , Mutation/genetics
19.
J Cutan Aesthet Surg ; 13(1): 11-17, 2020.
Article in English | MEDLINE | ID: mdl-32655245

ABSTRACT

Context: Acne vulgaris is a chronic inflammatory disorder of the pilosebaceous unit prevalent in adolescent population. Atrophic acne scarring negatively affects the quality of life. Although challenging to treat, the introduction of fractional carbon dioxide (CO2) laser and platelet-rich plasma (PRP) therapy for atrophic scars has opened up new avenues. Aim: The aim of this study was to evaluate and compare the efficacy of fractional CO2 laser alone and in combination with topical PRP in treating post-acne atrophic scars. Subjects and Methods: A hospital-based prospective, double-blinded, randomized, and comparative study was conducted. A total of 33 cases with post-acne atrophic scars of moderate to severe grade were randomly allotted into Group A and Group B who were treated for three monthly sessions of fractional CO2 laser followed by topical PRP and fractional CO2 laser monotherapy, respectively. Evaluation at baseline and every visit was carried out and compared at the end of 12 weeks. Results: Of the 33 patients, 25 completed the study. The mean change in score was higher in subjects of Group A. The mean scar score significantly reduced in both groups. The mean visual analog scale was higher in Group A. The reduction in scar score was significantly higher in patients with rolling scars and boxcar scars and least in ice pick scars. Erythema, edema, pain, and hyperpigmentation were higher in Group B. Conclusion: Combination therapy with PRP is more efficacious in reducing post-acne atrophic scars and reducing adverse effects of laser therapy as compared to fractional CO2 laser monotherapy.

20.
Mol Genet Genomic Med ; 8(10): e1422, 2020 10.
Article in English | MEDLINE | ID: mdl-32720758

ABSTRACT

BACKGROUND: Classical Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder mainly caused by heterozygous COL5A1 or COL5A2 variants encoding type V collagen and rarely by the p.(Arg312Cys) missense substitution in COL1A1 encoding type I collagen. The current EDS nosology specifies that minimal suggestive criteria are marked skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility or at least three minor criteria comprising additional cutaneous and articular signs. To reach a final diagnosis, molecular testing is required. Herein, we report on a 3-year-old female who came to our attention with an inconclusive next generation sequencing (NGS) panel comprising all cEDS-associated genes. METHODS: Despite the patient did not formally fulfill the nosological criteria because the skin was only slightly hyperextensible, we made a cEDS diagnosis, mainly for the presence of typical atrophic scars. We investigated COL5A1 intragenic deletions/duplications by Multiplex Ligation-dependent Probe Amplification (MLPA), excluded the recessive classical-like EDS type 2 by AEBP1 Sanger analysis, and retested COL5A1 with the Sanger method. RESULTS: Molecular analyses revealed the novel COL5A1 c.3369_3431dup p.(Glu1124_Gly1144dup) intermediate-sized duplication with a predicted dominant negative effect that was missed both by NGS and MLPA. CONCLUSIONS: This report highlights that some cEDS patients might not display overt skin hyperextensibility and the importance of clinical expertise to make such a diagnosis in patients with an incomplete presentation. Our results also exemplify that NGS is not a fool-proof technology and that Sanger sequencing achieves the diagnostic goal when there is a sufficiently clear phenotypic indication.


Subject(s)
Collagen Type V/genetics , Ehlers-Danlos Syndrome/genetics , Genetic Testing/methods , Phenotype , Carboxypeptidases/genetics , Child, Preschool , Diagnosis, Differential , Ehlers-Danlos Syndrome/diagnosis , Female , Humans , Repressor Proteins/genetics , Skin/pathology
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