Search Results (100)

Germline genetic testing plays a critical role in diagnosing inherited predispositions and increasingly guides therapeutic and surveillance choices—but becomes technically challenging after allogeneic hematopoietic stem cell transplantation (HSCT), when donor-derived DNA contaminates host tissues. To address this, we compared donor-derived DNA across three accessible tissues—buccal swab, nail, and eyebrow follicles—in recipients after hematopoietic stem cell transplantation using two orthogonal assays (34-SNP next-generation sequencing and a 27-marker short tandem repeat panel) and modeled clinical covariates that influence chimerism. Eyebrow follicles showed consistently low donor DNA (median 1% by NGS; 3% by STR) whereas buccal swabs and nails carried substantially higher donor fractions (+25 and +22 percentage points versus eyebrow, respectively; both p < 0.01). Across methods, STR yielded on average ≈6 percentage points higher donor fractions than NGS at low-level chimerism. Several transplant covariates correlated with chimerism: matched-related donors and a perfect HLA match (10/10) were each associated with lower donor DNA (≈12–14 and 15–20 percentage points, respectively); longer times since hematopoietic stem cell transplantation correlated with lower levels for nail samples, and donor–recipient sex match correlated with higher donor DNA (~7–8 percentage points). Even low-level chimerism can distort germline variant interpretation. We propose a pragmatic protocol for post-hematopoietic stem cell transplantation germline testing that prioritizes eyebrow follicles as the default tissue. An SNP-based quality control assay is used to flag unsafe donor fractions (≥ 5–10%) before comprehensive germline analysis, reducing the risk that chimeric donor DNA distorts germline variant interpretation. Full article

Background: Transorbital approaches (TOAs) provide minimally invasive access to anterior and middle cranial fossa lesions. However, orbital retraction remains a challenge, as narrow corridors limit maneuverability and excessive retraction increase complication risk. Conventional rigid or malleable retractors may obstruct the corridor or exert uneven pressure on delicate tissues. We present a handmade, semi-rigid plastic retractor as a low-cost, effective solution to optimize orbital retraction in TOAs. Methods: The retractor was fashioned from a cylindrical plastic drill bit container, cut into two semicircular pieces with rounded edges. Its application is described within the transorbital eyebrow lacrimal keyhole approach (TELKA). During the bony phase, one piece is placed on the orbital roof for periorbital retraction and protection, while a second may be positioned laterally to protect the temporalis muscle when required. Once adequate working space is achieved, the lateral retractor is removed and the medial one maintained throughout the procedure. Technical details are illustrated through representative clinical cases, supported by anatomical dissection and an operative video. Results: Across thirteen TELKA procedures, the semi-rigid retractor provided stable, low-intensity retraction with even pressure distribution, minimizing corridor obstruction and facilitating both microscopic and endoscopic maneuverability. No orbital or visual complications related to retraction were observed; periorbital structures were preserved, with no postoperative proptosis or aesthetic defects. Conclusions: This handmade, semi-rigid retractor is a safe, customizable, and reproducible tool that enhances surgical freedom while minimizing orbital morbidity in TOAs. It is particularly advantageous in keyhole procedures such as TELKA, representing a promising alternative to conventional retraction systems. Full article

Background: Body dysmorphic disorder (BDD) is a psychiatric condition characterized by a preoccupation with perceived appearance flaws. It is highly prevalent among aesthetic surgery candidates and can negatively impact surgical outcomes. The Body Dysmorphic Disorder Questionnaire (BDDQ) is used for BDD screening, but objective validation is limited. This study aimed to determine whether individuals screening positive for BDD exhibit different visual perception patterns of their own and model faces compared to controls, using eye-tracking technology. Methods: We conducted a cross-sectional study among 79 participants, including psychiatric patients and medical students. Participants completed the BDDQ and underwent eye-tracking while evaluating standardized photographs of models and their own faces. Gaze fixation patterns were recorded across pre-defined facial areas of interest. Perception and aesthetic assessment differences between the BDDQ-positive and BDDQ-negative groups were studied. Results: Participants focused most frequently on the nose, eyes and eyebrows. Compared to model faces, more attention was directed toward their own chin and cheeks. However, BDDQ screening results did not significantly influence fixation patterns or eye-tracking metrics. Psychiatric patients, regardless of BDDQ status, exhibited more numerous and shorter fixations than students. All participants rated model faces as significantly more attractive (i.e., higher aesthetic rating) than their own, with the largest difference observed in the BDDQ-positive group. Conclusions: While individuals screening positive for BDD reported lower self-attractiveness, eye-tracking patterns did not differ significantly from those of healthy participants. These findings suggest that BDDQ remains a useful screening tool for subjective dissatisfaction but may not correspond to objective differences in facial visual processing. Full article

Recent advances in the understanding of facial anatomy have contributed significantly to the refinement of injection techniques for the treatment of dynamic forehead lines. A comprehensive assessment of eyebrow shape, position, and the aging process is essential, as the latter are closely linked to the functional balance between the frontalis muscle and the upper facial depressors. Optimal outcomes also depend on the accurate determination of dosage per injection point, injection depth, and strategic distribution of injection sites within the frontalis, which should be carefully considered and tailored to the individual’s anatomical characteristics and therapeutic goals—whether the aim is neuromodulation for muscle activity reduction or intradermal application for skin quality enhancement. A round table discussion session among three experienced international dermatology experts in aesthetic botulinum toxin type A was performed during a MERZ LATAM-sponsored medical education session. Recent insights in facial anatomy, including the precise location and distribution of motor endplates, as well as the direction of muscular force vectors during contraction; aging processes; and interindividual variability in facial musculature and mimicry patterns are discussed, and the results are described herein. These factors play a critical role in customizing personalized injection strategies and improving aesthetic outcomes in the treatment of forehead lines. Full article

Facial palsy affects millions worldwide. Botulinum toxin Type A (BoNT-A) is an established treatment for non-flaccid facial palsy, yet objective evidence remains limited. This study evaluates the effects of BoNT-A using AI-based tools and patient-reported outcome measures (PROMs). In this prospective observational study, patients with non-flaccid facial palsy received individualized BoNT-A injections. Exclusion criteria included age < 18, hypersensitivity to BoNT-A, or lack of follow-up. Assessments were conducted before and 3 weeks after treatment, including facial symmetry (Emotrics^®), emotion expression (FaceReader™), and PROMs (FaCE and FDI). Eleven patients (mean age 50.1 ± 18 years) were included. BoNT-A significantly improved dynamic facial symmetry: eyebrow raising (p = 0.032), smile angle (p = 0.005), and lower lip height (p = 0.042). Emotion analysis showed no significant changes. PROMs revealed improvements in social well-being (FDI, p = 0.004) and aesthetic satisfaction (FaCE, p = 0.035), while functional FDI scores remained unchanged (p = 0.406). BoNT-A improves objective symmetry and patient satisfaction in non-flaccid facial palsy. The lack of change in emotional expression may reflect improved symmetry at the cost of dynamic muscle activation. Full article

Signs of aging in the upper face arise from multimodal changes in facial anatomy, contributing to concerns such as eyebrow ptosis and forehead lines. While neurotoxin injections are widely used to address these lines, the anatomical variability of the frontalis muscle presents procedural challenges. This retrospective analysis aimed to introduce and preliminarily evaluate a structured injection pattern for forehead treatment, developed with attention to the biomechanics of upper facial musculature. A total of 24 patients (mean age 42.5 ± 9.1 years) treated with a standardized injection scheme using letibotulinumtoxinA were included. All subjects also received concomitant glabellar treatment. The protocol incorporated identification of the line of convergence and targeted injections at defined points to balance elevation, optimize muscular activity, and minimize the risk of eyebrow descent. Forehead line severity was assessed at rest and during animation, and three-dimensional surface imaging was used to quantify vertical skin displacement. At baseline, 79.2% of patients presented with severe dynamic forehead lines, and 29.1% exhibited severe static lines. After two weeks, 62.5% showed no dynamic lines and 41.7% showed no static lines. All subjects demonstrated a ≥1-point improvement in dynamic line severity, with 87.5% achieving a ≥2-point improvement. For static lines, 95.8% achieved a ≥1-point improvement and 20.8% showed a ≥2-point improvement after two weeks. The mean dosage was 17.8 ± 0.7 U. Two patients (8.3%) required a touch-up, and no adverse events were observed. These findings suggest that this structured injection approach may offer a consistent method for addressing forehead lines; however, the results should be interpreted within the limitations of a small, uncontrolled retrospective series. Prospective controlled studies with larger populations are needed to further validate the technique. Full article

Background/Objectives: Forehead lipomas are benign but cosmetically conspicuous. Direct transcutaneous incision allows easy removal but often leaves visible scars. Hairline approaches conceal scars but are unsuitable for bald or high-hairline patients and lower forehead lipomas. We evaluated a peri-eyebrow approach using a superior brow-margin incision versus conventional methods. Methods: We retrospectively reviewed 176 patients who underwent forehead mass excision between 2008 and 2025. After exclusions, 97 biopsy-proven lipomas were analyzed (peri-eyebrow 22; hairline 38; direct 37). Variables included lipoma location, vertical ratio (lipoma position between the hairline and eyebrow), lipoma size, and incision length. Logistic regression assessed the relationship between vertical ratio and peri-eyebrow incision selection. Multivariate logistic regression identified independent predictors, and bootstrap validation (1000 iterations) assessed the internal stability of the ROC cut-off. Scar quality was evaluated using the Patient and Observer Scar Assessment Scales. Results: Peri-eyebrow incisions were used only for midline or median lipomas. The vertical ratio was highest in the peri-eyebrow group (0.70 ± 0.10) and independently predicted incision choice (adjusted OR per 0.1-unit increase 3.32, p < 0.001). ROC analysis showed excellent discrimination (AUC 0.872), and the bootstrapped AUC (0.802, 95% CI 0.727–0.878) confirmed robust internal validity. The optimal 0.615 cut-off yielded 0.82 sensitivity and 0.79 specificity. Peri-eyebrow and hairline incisions achieved significantly better scar scores than direct incisions (p < 0.001). Conclusions: The peri-eyebrow incision is a safe and cosmetically effective alternative when hairline incisions are unsuitable. It offers concealed scars and outcomes comparable to hairline incisions. Full article

Facial reconstructive surgery requires precise preoperative planning to optimize functional and aesthetic outcomes, but current imaging technologies like CT and MRI do not offer visualization of expected post-surgical appearance, limiting surgical planning capabilities. We developed a deep learning framework integrating facial inpainting and monocular depth estimation models to predict surgical outcomes and enable 2D and 3D planning from clinical photographs. Three state-of-the-art inpainting architectures (LaMa, LGNet, MAT) and three monocular depth estimation approaches (ZoeDepth, Depth Anything V2, DepthPro) were evaluated using the FFHQ dataset for inpainting and C3I-SynFace dataset for depth estimation, with comprehensive quantitative metrics assessing reconstruction quality and depth accuracy. For anatomically specific facial features, LGNet demonstrated superior performance across eyebrows (PSNR: 25.11, SSIM: 0.75), eyes (PSNR: 20.08, SSIM: 0.53), nose (PSNR: 25.70, SSIM: 0.88), and mouth (PSNR: 22.39, SSIM: 0.75), with statistically significant differences confirmed by paired t-tests (p < 0.001) and large effect sizes (Cohen’s d = 2.25–6.33). DepthPro significantly outperformed competing depth estimation models with absolute relative difference of 0.1426 (78% improvement over Depth Anything V2: 0.6453 and ZoeDepth: 0.6509) and δ₁ accuracy of 0.8373 (versus 0.6697 and 0.5271 respectively). This novel framework addresses a critical gap in surgical planning by providing comprehensive preoperative visualization of potential outcomes from standard clinical photographs, supporting applications from maxillofacial reconstruction to orbital and nasal procedures. Full article

Background/Objectives: Alopecia areata is an autoimmune condition characterized by rapid hair loss in the scalp, eyebrows, and eyelashes, for which treatments are limited. Baricitinib, an oral inhibitor of Janus kinases 1 and 2, has been recently approved to treat alopecia areata. Methods: A total of 23 patients affected by severe alopecia areata (SALT > 50) for more than 6 months were enrolled, including 14 with AU, 3 with AT, and 6 with ophiasis, and all of whom were treated with baricitinib for a minimum of 52 weeks. Clinical and trichoscopic assessments were performed at each visit, and the impact on quality of life, anxiety, and depression was evaluated using the Skindex-16 and the Hospital Anxiety and Depression Scale (HADS), respectively. Results: A total of 23 patients were enrolled, with a mean age of 44.62 years and a mean SALT of 83.66. The mean value of the SALT score decreased to 51.23 at 6 months and 42.41 after one year. Psychological well-being and quality of life also improved, as demonstrated by the decrease in Skindex-16 and HADS scores. Trichoscopic signs showed a decrease in yellow dots and black dots and an increase in vellus hairs and hair regrowth. Adverse events during the treatment period were reported in 18.75% patients. No drop-outs were registered. Conclusions: Data on the effectiveness and safety of baricitinib are promising and support the use of this drug in severe forms of AA, also in the early stages. We also suggest performing trichoscopy in response to therapy. Full article

Background and Objectives: Familial clustering and autoimmune multimorbidity are frequently observed in vitiligo. However, the clinical implications of a positive family history across generations remain unclear. In this study, a positive family history was defined as having at least one affected parent or grandparent. Materials and Methods: We retrospectively reviewed the electronic medical records of 972 adults with vitiligo who attended the rheumatology division in a regional teaching hospital in southern Taiwan between 2006 and 2022. Demographic characteristics, family history, clinical features, and autoimmune comorbidities were extracted from electronic medical records. Associations between family history and clinical parameters were assessed using logistic regression analyses adjusted for age and sex. Results: A total of 157 patients (16.2%) reported a family history, more often through parents than grandparents; maternal history was more common than paternal. Compared with those without a family history, affected families showed significantly younger age at diagnosis and a higher prevalence of lower-limb involvement. In adjusted models, family history was associated with greater odds of lower-limb involvement (adjusted odds ratio [aOR] 1.78, 95% confidence interval [CI] 1.22–2.58) and lower odds of eyebrow/eyelash depigmentation (aOR 0.39, 95% CI 0.16–0.92). Hashimoto thyroiditis was more frequent among familial cases (aOR 7.56, 95% CI 1.23–46.65). In sex-stratified analyses, associations were stronger in females, notably for lower-limb involvement (aOR 1.87), axillary depigmentation (aOR 2.33), and Hashimoto thyroiditis (aOR 11.27). Conclusions: Familial vitiligo shows earlier onset, distinct anatomical patterns, and increased thyroid autoimmunity, supporting systematic family-history assessment and targeted thyroid screening. Full article

Meme image sentiment analysis is a task of examining public opinion based on meme images posted on social media. In various fields, stakeholders often need to quickly and accurately determine the sentiment of memes from large amounts of available data. Therefore, innovation is needed in image pre-processing so that an increase in performance metrics, especially accuracy, can be obtained in improving the classification of meme image sentiment. This is because sentiment classification using human face datasets yields higher accuracy than using meme images. This research aims to develop a sentiment analysis model for meme images based on key points. The analyzed meme images contain human faces. The facial features extracted using key points are the eyebrows, eyes, and mouth. In the proposed method, key points of facial features are represented in the form of graphs, specifically directed graphs, weighted graphs, or weighted directed graphs. These graph representations of key points are then used to build a sentiment analysis model based on a Deep Neural Network (DNN) with three layers (hidden layer: i = 64, j = 64, k = 90). There are several contributions of this study, namely developing a human facial sentiment detection model using key points, representing key points as various graphs, and constructing a meme dataset with Indonesian text. The proposed model is evaluated using several metrics, namely accuracy, precision, recall, and F-1 score. Furthermore, a comparative analysis is conducted to evaluate the performance of the proposed model against existing approaches. The experimental results show that the proposed model, which utilized the directed graph representation of key points, obtained the highest accuracy at 83% and F1 score at 81%, respectively. Full article

Background: Acquired ptosis is a common eyelid disorder in elderly patients, causing visual disturbance and cosmetic concerns. Accurate evaluation of periocular anatomy, including eyebrow and iris position, is essential for surgical planning, but current manual assessments are time-consuming and subjective. Objectives: This study aimed to develop deep-learning models for iris and eyebrow segmentation to automate eye landmark measurements and enable objective, standardized analysis in patients with acquired ptosis. Methods: We retrospectively collected 612 facial images from 209 ptosis patients. Images were labeled for iris and eyebrow segmentation and split into training, validation, and test sets (8:1:1). A deep-learning model was developed to automatically segment the iris and eyebrow regions and automatically measure seven landmarks: MRD1, MRD2, medial eyebrow end, medial limbus, pupil center, lateral limbus, and lateral eyebrow end. Results: The iris segmentation model achieved accuracy of 99.7%, precision of 97.6%, recall of 98.3%, an F1 score of 97.9%, and intersection over union of 95.9%. The corresponding metrics for the eyebrow segmentation model were 98.6%, 92.6%, 91.5%, 91.5%, and 85.0%. The mean absolute percentage error and root mean square error for the automated landmark measurements were 4.00% and 2.48 mm, respectively. Conclusions: The high performance of the segmentation models and the automated measurements supports their potential use for objective and standardized analyses of acquired ptosis. These findings may aid the future development of predictive tools for use in surgical planning. Full article

Background/Objectives: Older women who habitually wear makeup exhibit better cognitive and psychological functioning. However, physical characteristics associated with habitual makeup use in this population remain unclear. We aimed to evaluate physical, cognitive, and psychological characteristics of community-dwelling older women who habitually use makeup. Methods: This health survey included 295 community-dwelling women aged ≥65 years. Weekly makeup use frequency; cosmetic types used; grip strength; sit-and-reach distance; one-leg standing time; maximum walking speed; and scores on timed up-and-go (TUG) test, Mini-Mental State Examination, Geriatric Depression Scale-5 (GDS-5), and EuroQol 5-Dimension 5-Level (EQ-5D-5L, Japanese version) were statistically analyzed and compared between makeup and non-makeup groups. Further, the following four groups, based on lipstick and eyebrow product use, were compared: lipstick users, eyebrow products users, both-users, and neither-users. Results: The make-up group had lower age (p = 0.001), lower TUG scores (p = 0.011), lower fastest walking speed (p = 0.022), and lower GDS-5 scores (p = 0.009) and higher grip strength (p = 0.011), one leg standing time (p = 0.008), and EQ-5D-5L scores (p = 0.049). After adjusting for age, the make-up group showed significantly lower GDS-5 scores (p = 0.008) and higher EQ-5D-5L scores (p = 0.038). Comparison by cosmetic types revealed significantly lower age (p = 0.004) and TUG (p = 0.007), GDS-5 (p = 0.002), and EQ-5D-5L (p = 0.034) scores and higher EQ-5D-5L scores in users than in non-users. Multinomial logistic regression analysis revealed a significant association with TUG (odds ratio [OR], 0.653; 95% confidence interval [CI], 0.448–0.952) and GDS-5 (OR, 0.592; 95% CI, 0.415–0.843) in both-users. Conclusions: Habitual lipstick and eyebrow cosmetic use may be associated with improved mood, quality of life, and dynamic balance in older women. Full article

Background: Primary cicatricial alopecias (PCA) are inflammatory disorders that cause permanent hair loss through follicular destruction and fibrosis. Hair transplantation (HT) may restore coverage in stable or end-stage PCA cases. This review assesses the efficacy of HT in PCA including optimal timing, graft survival rates, and the risk of disease reactivation. Material & Methods: A PubMed literature search identified 33 studies of HT in lichen planopilaris (LPP), frontal fibrosing alopecia (FFA), discoid lupus erythematosus, central centrifugal cicatricial alopecia, pseudopelade of Brocq, morphea en coup de sabre, and folliculitis decalvans from the 1960s to present. Reviews were excluded. Results: Among 147 PCA patients, 87.8% had positive HT outcomes. LPP showed high graft survival (70–90%). In contrast, eyebrow FFA (75%), folliculitis decalvans (25%), and scalp FFA (8.6%) had the highest failure rates. Follicular unit extraction was used slightly more than follicular unit transplantation. Notably, 46 patients developed PCA post-HT for presumed androgenetic alopecia. Discussion: HT in PCA can succeed with careful patient selection and stable disease (ideally ≥12–24 months). Graft survival varies by subtype. LPP has consistently reported successful outcomes post-transplantation, whereas folliculitis decalvans and FFA had the poorest outcomes. Adjuncts like immunosuppressants, PRP, and minoxidil may enhance results. Conclusions: Hair transplantation is viable in quiescent PCA, but outcomes are subtype-dependent. Many surgeons already perform these surgeries, but the published literature is lacking, and more research is needed to establish standardized timing, improve long-term graft survival, and clarify the risk of post-HT PCA onset. Full article

Background/Objectives: Autosomal recessive primary microcephaly is a rare and genetically heterogeneous disorder characterized by congenital non-syndromic microcephaly, with at least 28 causative genes identified to date. Biallelic variants in the CDK5RAP2 gene, an ultra-rare cause of autosomal recessive primary microcephaly, lead to Primary Autosomal Recessive Microcephaly 3 (MCPH3). Methods: We present seven patients from six families diagnosed with MCPH3 in light of clinical and molecular findings using whole-exome sequencing (WES). Furthermore, we investigated the effects of the identified intronic variants on splicing through RNA analysis. Results: Almost all patients had severe microcephaly, mild to moderate intellectual disability, speech delay, and cutaneous pigmentary abnormalities. Four patients presented with postnatal short stature, and two showed weight deficiency. Dysmorphic evaluation revealed that the most prominent features included brachycephaly, hypertelorism, epicanthus, high-arched eyebrows, prominent nasal bridge, and micrognathia. We identified five distinct homozygous CDK5RAP2 variants in our patients, including four novel variants. Segregation analysis verified that the parents were carriers. Two of these variants were intronic (c.3148+5G>C and c.383+4dupA), two were frameshift (c.3168del), and one was a nonsense variant (c.1591C>T). Both intronic variants disrupted splicing, generating a premature stop codon and resulting in a truncated protein. Conclusions: This study broadens the mutational landscape of CDK5RAP2. We also sought to demonstrate the functional consequences of the CDK5RAP2 intronic variants on gene function using RNA analysis. The identification of four novel variants underscores the importance of molecular diagnostics in patients with primary microcephaly and provides valuable data for genetic counseling and future functional studies. Full article