Dermatology Commons^™

Lineage-Coupled Clonal Capture Identifies Clonal Evolution Mechanisms And Vulnerabilities Of Brafv600e Inhibition Resistance In Melanoma, Ze-Yan Zhang, Yingwen Ding, Ravesanker Ezhilarasan, Tenzin Lhakhang, Qianghu Wang, Jie Yang, Aram S Modrek, Hua Zhang, Aristotelis Tsirigos, Andrew Futreal, Giulio F Draetta, Roel G W Verhaak, Erik P Sulman

Faculty, Staff and Student Publications

Targeted cancer therapies have revolutionized treatment but their efficacies are limited by the development of resistance driven by clonal evolution within tumors. We developed "CAPTURE", a single-cell barcoding approach to comprehensively trace clonal dynamics and capture live lineage-coupled resistant cells for in-depth multi-omics analysis and functional exploration. We demonstrate that heterogeneous clones, either preexisting or emerging from drug-tolerant persister cells, dominated resistance to vemurafenib in BRAF

Clinical And Pathological Characteristics And Outcomes Among Patients With Subcutaneous Panniculitis-Like T-Cell Lymphoma And Related Adipotropic Lymphoproliferative Disorders, Joan Guitart, Aaron R Mangold, Maria Estela Martinez-Escala, Christina J Walker, Nneka I Comfere, Mellissa Pulitzer, Kerri E Rieger, Carlos A Torres-Cabala, Laura B Pincus, Erica S Kumar, Erica Bo Kyung Wang, Katherine E Park, Maria L Espinosa, Madeleine Duvic, Youn H Kim, Steven Horwitz

Faculty, Staff and Student Publications

IMPORTANCE: There is a knowledge gap about subcutaneous panniculitis-like T-cell lymphoma (SPTCL) owing to its rarity and diagnostic difficulty, resulting in an absence of well-documented large case series published to date.

OBJECTIVE: To generate consensus knowledge by a joint multi-institutional review of SPTCL and related conditions.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective clinical and pathological review included cases initially diagnosed as SPTCL at 6 large US academic centers. All cases were reviewed by a group of pathologists, dermatologists, and oncologists with expertise in cutaneous lymphomas. Through a process of group consensus applying defined clinical and pathological diagnostic criteria, the cohort …

Social Media Impact Of Articles Published By Dermatology Residents During Medical School: Cross-Sectional Study, Austin Huang, Harrison Zhu, Kelvin Zhou, R Parker Kirby, Nina Dasari, Gianmarco A Calderara, Kathryn Cordova, Ryan Sorensen, Anshul Bhatnagar, Soo Jung Kim

Faculty, Staff and Students Publications

BACKGROUND: The Altmetric score (AS) is a novel measure of publication impact that is calculated by the number of mentions across various social media websites. This method may have advantages over traditional bibliometrics in the context of research by medical students.

OBJECTIVE: This study aimed to determine whether dermatology matriculants who graduated from higher-ranked medical schools published more articles with greater impact (ie, a higher AS) than those from lower-ranked institutions.

METHODS: A PubMed search for articles published by dermatology residents who started medical school in 2020 was conducted. Demographic information and Altmetric data were collected, and medical schools were …

Efficacy And Safety Of Topical Hypericin Photodynamic Therapy For Early-Stage Cutaneous T-Cell Lymphoma (Mycosis Fungoides): The Flash Phase 3 Randomized Clinical Trial, Ellen J Kim, Aaron R Mangold, Jennifer A Desimone, Henry K Wong, Lucia Seminario-Vidal, Joan Guitart, James Appel, Larisa Geskin, Edward Lain, Neil J Korman, Nathalie Zeitouni, Neda Nikbakht, Kenneth Dawes, Oleg Akilov, Joi Carter, Michi Shinohara, Timothy M Kuzel, Warren Piette, Neal Bhatia, Amy Musiek, David Pariser, Youn H Kim, Dirk Elston, Erin Boh, Madeleine Duvic, Auris Huen, Theresa Pacheco, Jeffrey P Zwerner, Seung Tae Lee, Michael Girardi, Christiane Querfeld, Kimberly Bohjanen, Elise Olsen, Gary S Wood, Adam Rumage, Oreola Donini, Andrea Haulenbeek, Christopher J Schaber, Richard Straube, Christopher Pullion, Alain H Rook, Brian Poligone

Faculty, Staff and Student Publications

IMPORTANCE: Given that mycosis fungoides-cutaneous T-cell lymphoma (MF/CTCL) is chronic, there is a need for additional therapies with minimal short- and long-term adverse effects. Topical synthetic hypericin ointment, 0.25%, activated with visible light is a novel, nonmutagenic photodynamic therapy (PDT).

OBJECTIVES: To determine the efficacy and safety of topical synthetic hypericin ointment, 0.25%, activated with visible light as a nonmutagenic PDT in early-stage MF/CTCL.

DESIGN, SETTINGS, AND PARTICIPANTS: This was a multicenter, placebo-controlled, double-blinded, phase 3 randomized clinical trial (FLASH study) conducted from December 2015 to November 2020 at 39 academic and community-based US medical centers. Participants were adults (≥18 …

Advances In Management And Therapeutics Of Cutaneous Basal Cell Carcinoma, Olivia M Chen, Keemberly Kim, Chelsea Steele, Kelly M Wilmas, Nader Aboul-Fettouh, Carrick Burns, Hung Quoc Doan, Sirunya Silapunt, Michael R Migden

Faculty, Staff and Student Publications

Basal cell carcinoma (BCC), the most common cancer in humans, is a malignant neoplasm of cells derived from the basal layer of the epidermis. Tumor characteristics such as histologic subtype, primary versus recurrent tumor, anatomic location, size, and patient attributes determine the risk level and acceptable treatment options. Surgical options offer histologic confirmation of tumor clearance. Standard excision provides post-treatment histologic assessment, while Mohs micrographic surgery (MMS) provides complete margin assessment intraoperatively. Additional treatment options may be employed in the correct clinical context. Small and low-risk BCCs, broad field cancerization, locally-advanced disease, metastatic disease, cosmetic concerns, or morbidity with surgical …

Advances In Cutaneous Squamous Cell Carcinoma Management, Carrick Burns, Shelby Kubicki, Quoc-Bao Nguyen, Nader Aboul-Fettouh, Kelly M Wilmas, Olivia M Chen, Hung Quoc Doan, Sirunya Silapunt, Michael R Migden

Faculty, Staff and Student Publications

cSCC is increasing in prevalence due to increased lifespans and improvements in survival for conditions that increase the risk of cSCC. The absolute mortality of cSCC exceeds melanoma in the United States and approaches that of melanoma worldwide. This review presents significant changes in the management of cSCC, focusing on improvements in risk stratification, new treatment options, optimization of existing treatments, and prevention strategies. One major breakthrough in cSCC treatment is the advent of immune checkpoint inhibitors (ICIs) targeting programmed cell death protein 1 (PD-1) and programmed death-ligand 1 (PD-L1), which have ushered in a renaissance in the treatment of …

Advance Trends In Targeting Homology-Directed Repair For Accurate Gene Editing: An Inclusive Review Of Small Molecules And Modified Crispr-Cas9 Systems, Forough Shams, Hadi Bayat, Omid Mohammadian, Somayeh Mahboudi, Hassan Vahidnezhad, Mohsen Soosanabadi, Azam Rahimpour

Jefferson Institute of Molecular Medicine Papers and Presentations

Introduction: Clustered regularly interspaced short palindromic repeat and its associated protein (CRISPR-Cas)-based technologies generate targeted modifications in host genome by inducing site-specific double-strand breaks (DSBs) that can serve as a substrate for homology-directed repair (HDR) in both in vitro and in vivo models. HDR pathway could enhance incorporation of exogenous DNA templates into the CRISPR-Cas9-mediated DSB site. Owing to low rate of HDR pathway, the efficiency of accurate genome editing is diminished. Enhancing the efficiency of HDR can provide fast, easy, and accurate technologies based on CRISPR-Cas9 technologies. Methods: The current study presents an overview of attempts conducted on the …

Impact Of Delayed Dermatology Consultation On Inpatient Care, Andrew S. Kao, Andrew D. King, Redina Bardhi, Meghan Mansour, Steven Daveluy

Medical Student Research Symposium

Introduction: Dermatology consultation for inpatient skin disorders enhances care by changing diagnoses, management plans, and reducing length of stay. Our goal is to quantify the time delay from primary team to dermatology consult, and its impact on hospital course as well as overall patient care.

Methods: Retrospective chart review of all inpatient dermatology consults from October 1, 2013 to December 31, 2016 at five hospitals within the Detroit Medical Center. Data included demographics, diagnosis, management plans from primary and consulting teams, and timing of initial recognition of skin problem to dermatology and other specialties consultations.

Results: 873 consultations met criteria …

Ets-Related Gene (Erg) Is Differentially Expressed In Dermatofibroma (Fibrous Histiocytoma) As Compared With Dermatofibromasarcoma Protuberans And Hypertrophic Scars: A Pilot Immunohistochemical Study, Meredith Hengy, Jesse Veenstra, Kyle Perry, David M. Ozog, Ben Friedman

Medical Student Research Symposium

Immunohistochemical staining can be of great utility in differentiating various cutaneous spindle cell neoplasms, particularly when the histomorphological appearance of the lesions is inconclusive. Nuclear staining for ETS-related gene (ERG), a highly sensitive endothelial cell marker, has seldom been studied in the context of cutaneous spindle cell neoplasms. Little is known about its specificity for vascular differentiation. In this pilot study, immunohistochemical analysis for ERG was performed on fifteen dermatofibromas (DF), ten keloids, and nine dermatofibrosarcoma protuberans tumors (DFSP). Consistent nuclear expression of ERG was found in DF [100% (15/15) of the lesions demonstrated >50% labeling of tumor cells with …

Part I Antimicrobial Resistance: Bacterial Pathogens Of Dermatologic Significance And Implications Of Rising Resistance, Saira George, Fiorinda F Muhaj, Celine D Nguyen, Stephen K Tyring

Faculty, Staff and Student Publications

Although the COVID-19 pandemic has been the defining global health crisis of our time, public health officials have been sounding the alarm of another ominous threat for years: an impending antimicrobial resistance crisis. In dermatology, antibiotics are often used for prolonged courses in the treatment of skin and soft tissue infections and common inflammatory skin conditions, increasing the risk of microbiome alteration and antibiotic-related adverse effects, all while exerting consequential selective pressures on both pathogenic and bystander bacteria. In this review, we hope to raise awareness of the crisis of antimicrobial resistance and review resistance concerns related to dermatology-relevant bacterial …

New Practical Aspects Of Sweet Syndrome, Tejas P Joshi, Sarah K Friske, David A Hsiou, Madeleine Duvic

Faculty, Staff and Student Publications

Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is an inflammatory, non-infectious skin reaction characterized clinically by tender, erythematous papules/plaques/pustules/nodules commonly appearing on the upper limbs, trunk, and head and neck; histologically, SS is characterized by dense neutrophilic infiltrate in the dermis. SS is accompanied by fever; an elevation of inflammatory markers (e.g., erythrocyte sedimentation rate, C reactive protein) in serum may also be observed. Although most cases of SS are idiopathic, SS also occurs in the setting of malignancy or following administration of an associated drug. SS has also been reported in association with pregnancy and a burgeoning list …

Association Of Flame-Retardant Clothing With Mycosis Fungoides: A Retrospective Analysis, Katherine E Park, Vignesh Ramachandran, Jessica Tran, Tejas P Joshi, Naveen Garg, Madeleine Duvic

Faculty, Staff and Student Publications

Introduction: Mycosis fungoides (MF), the most prevalent form of cutaneous T-cell lymphoma (CTCL), has been associated with a variety of environmental and occupational exposures. Flame-retardant clothing (FRC), in contrast to flame-resistant clothing, is chemically treated and may constitute a previously unrecognized occupational hazard.

Objectives: To report an association between FRC and MF.

Methods: After encountering several young male patients whose onset of MF coincided with the occupational use of FRC and occupation as fire fighters, we did a retrospective search. Additional biopsy proven MF patients with use of FRC were identified by the EPIC electronic medical record using the search …

Naked (N) Mutant Mice Carry A Nonsense Mutation In The Homeobox Of Hoxc13, Carlos J Perez, Lars Mecklenburg, Almudena Fernandez, Marta Cantero, Tiago Antonio De Souza, Kevin Lin, Sharon Y R Dent, Lluis Montoliu, Alexander Awgulewitsch, Fernando Benavides

Faculty, Staff and Student Publications

Loss of function mutations in HOXC13 have been associated with Ectodermal Dysplasia-9, Hair/Nail Type (ECTD9) in consanguineous families, characterized by sparse to complete absence of hair and nail dystrophy. Here we characterize the spontaneous mouse mutation Naked (N) as a terminal truncation in the Hoxc13 (homeobox C13) gene. Similar to previous reports for homozygous Hoxc13 knock-out (KO) mice, homozygous N/N mice exhibit generalized alopecia with abnormal nails and a short lifespan. However, in contrast to Hoxc13 heterozygous KO mice, N/+ mice show generalized or partial alopecia, associated with loss of hair fibres, along with normal lifespan and fertility. Our data …

Reactive Oxygen Species Reprogram Macrophages To Suppress Antitumor Immune Response Through The Exosomal Mir-155-5p/Pd-L1 Pathway, Xiang Li, Shaomin Wang, Wei Mu, Jennifer Barry, Anna Han, Richard L Carpenter, Bing-Hua Jiang, Stephen C Peiper, M G Mahoney, A E Aplin, Hong Ren, Jun He

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Background: Cancer cells have an imbalance in oxidation-reduction (redox) homeostasis. Understanding the precise mechanisms and the impact of the altered redox microenvironment on the immunologic reaction to tumors is limited.

Methods: We isolated exosomes from ovarian cancer cells through ultracentrifuge and characterized by Western-blots and Nanoparticle Tracking Analysis. 2D, 3D-coculture tumor model, and 3D live cell imaging were used to study the interactions between tumor cells, macrophages and CD3 T cells in vitro. The role of exosomal miR-155-5p in tumor growth was evaluated in xenograft nude mice models and immune-competent mice models. Flow cytometry and flow sorting were used to …

Granuloma Annulare: An Updated Review Of Epidemiology, Pathogenesis, And Treatment Options, Tejas P Joshi, Madeleine Duvic

Faculty, Staff and Student Publications

Granuloma annulare (GA) is an inflammatory granulomatous skin disease that can be localized (localized GA) or disseminated (generalized GA), with patch, perforating, and subcutaneous subtypes being less common variants of this benign condition. Recently, new research has emerged that further elucidates GA epidemiology and etiopathogenesis; importantly, new therapeutic options for GA have also been described, although there remains a paucity of randomized controlled studies. In this review, we summarize recent updates on GA epidemiology and etiopathogenesis and offer an updated review of the therapeutic options for GA currently reported in the literature. We hope that the current review galvanizes randomized …

Re-Thinking Therapeutic Development For Cns Metastatic Disease, Chantal Saberian, Michael A Davies

Faculty, Staff and Student Publications

There has been unprecedented progress in the development of systemic therapies for patients with metastatic melanoma over the last decade. There is now tremendous potential and momentum to further and markedly reduce the impact of this disease. However, developing more effective treatments for metastases to the CNS remains a critical challenge for patients with melanoma. Melanoma patients with active CNS metastases have largely been excluded from both early-phase and registration trials for all currently approved targeted and immune therapies for this disease. While this exclusion has generally been justified in clinical research due to concerns about poor prognosis, lack of …

Squamous Cell Carcinoma Arising In An Epidermal Inclusion Cyst, Suzanne Alkul, Christopher N Nguyen, Nisha S Ramani, Mahmud Alkul, Ida Orengo, Ikue Shimizu, Bhuvaneswari Krishnan

Faculty, Staff and Students Publications

Squamous cell carcinoma (SCC) arising from an epidermal inclusion cyst (EIC) is uncommon. We present a case of a 70-year-old man with a scalp nodule with persistent discharge that was resected based on the clinical impression of an EIC. Histopathologic exam showed an infundibular EIC with an epidermal type of squamous epithelium; however, some of the cyst lining and lumen was replaced by squamous proliferation with malignant features. There are 56 cases of SCC arising in EICs reported in the English literature. Though suspected EICs are commonly benign, a thorough pathologic evaluation is required to rule out malignancy.

Diagnosis And Interpretation Of Testing For Cat Scratch Disease, Nasim Khalfe, Doris Lin

Faculty, Staff and Students Publications

Cat scratch disease (CSD) is an infectious disease caused by Bartonella henselae that presents as regional lymphadenopathy which can appear within weeks after a cat scratch. There is no gold standard for diagnosis. Rather, clinicians rely on an amalgam of criteria to make a definitive diagnosis. We describe a case of a 44-year-old woman with six cats who presented with a painful left inguinal mass, had splenic lesions on imaging, and had positive serology but a negative polymerase chain reaction test for B. henselae.

Steroid-Refractory Lichenoid Eruption Associated With Pembrolizumab In A Patient With Non-Small Cell Lung Cancer, Leon Kou, Sanjay Agarwal, Alyssa Miceli, Logan Kolb, Karthik Krishnamurthy, Shawn Schmieder

HCA Healthcare Journal of Medicine

Programmed cell death receptor 1 (PD-1) inhibitors are promising and effective treatments for various cancers. Cutaneous adverse events, such as lichenoid drug eruptions, are well-known common side effects associated with PD-1 inhibitors. Lichenoid drug eruptions associated with PD-1 inhibitors show rapid improvement with high potency topical steroids and do not require cessation of the offending drug. We present the case of an 84-year-old female with progressive pembrolizumab therapy-associated lichenoid eruption that was resistant to several treatments and ultimately required discontinuation of pembrolizumab and treatment with methotrexate to resolve. This report includes histological findings of the pembrolizumab-associated lichenoid eruption.

Collagen-Based Biomaterials With Possible Therapeutic Effects, Ramona Mihaela Nedelcuţă, Gigi Călin, Mihai Cristian Nedelcuţă, Vlad Dumitru Baleanu, Dragos Virgil Davitoiu, Bogdan Socea, Bogdan-Petre Stănoiu

Journal of Mind and Medical Sciences

Epidermolysis bullosa (EB) is a rare, serious genetic disease, incurable through the current means. Apart from this initial definition, there was later some ease in the definition of the disease, including the manifestations of toxic epidermal necrolysis and Stevens Johnson syndrome in this entity. In medical practice, there are cases that do not overlap with the description in the literature, thus the treatment must be adapted and personalized to the particularities. We present the case of a female new-born, with "de novo" mutation for the early-onset antenatal epidermolysis and our personalized therapeutic management, based on collagen from bovine corneas by …

Devastating Effect Of Untreated Facial Squamous Cell Carcinoma, Nasim Khalfe, Ya Xu, Elizabeth May Schuele, Doris Lin

Faculty, Staff and Students Publications

Skin cancer develops primarily on areas of sun-exposed skin and can typically be treated if caught early. Here, we present a case of a 57-year-old man who presented with an extremely large facial squamous cell carcinoma with resulting perineural invasion and metastasis to parotid lymph nodes because he was unable to obtain timely treatment.

Dermatitis Herpetiformis: An Update On Diagnosis, Disease Monitoring, And Management, Christopher N Nguyen, Soo-Jung Kim

Faculty, Staff and Students Publications

Dermatitis herpetiformis (DH), Duhring disease, is caused by gluten sensitivity and affects 11.2 to 75.3 per 100,000 people in the United States and Europe with an incidence of 0.4 to 3.5 per 100,000 people per year. DH is characterized by a symmetrical blistering rash on the extensor surfaces with severe pruritus. The diagnosis continues to be made primarily by pathognomonic findings on histopathology, especially direct immunofluorescence (DIF). Recently, anti-epidermal transglutaminase (TG3) antibodies have shown to be a primary diagnostic serology, while anti-tissue transglutaminase (TG2) and other autoantibodies may be used to support the diagnosis and for disease monitoring. Newly diagnosed …

Gene Expression Profiling Of Mapk Pathway Inhibitor Resistance In Cutaneous Melanoma: Can Bioinformatics Be Used To Select Better Melanoma Cell Lines?, Stephen Luebker

Theses & Dissertations

Melanoma is the deadliest form of skin cancer, and incidence has continued to increase. Half of all melanomas have a BRAF V600E mutation and respond to MAPK pathway inhibitors, including BRAF inhibitor therapy or BRAF/MEK inhibitor combination therapy, but nearly all patients develop treatment resistance. Melanoma cell lines produce variable results as models of MAPK pathway inhibitor resistance. To better understand how the genomic similarity of a melanoma cell line to patient-derived tumors affects resistance mechanisms, differences in DNA mutations and copy-number alterations were compared between melanoma cell lines profiled by the Cancer Cell Line Encyclopedia and cutaneous melanoma tumors …

Thioredoxin Reductase Is A Major Regulator Of Metabolism In Leukemia Cells, Sheelarani Karunanithi, Ruifu Liu, Yongchun Hou, Giancarlo Gonzalez, Natasha Oldford, Anne Jessica Roe, Nethrie Idipilly, Kalpana Gupta, Chandra Sekhar Amara, Satwikreddy Putluri, Grace Kyueun Lee, Juan Valentin-Goyco, Lindsay Stetson, Stephen A Moreton, Vasanta Putluri, Shyam M Kavuri, Yogen Saunthararajah, Marcos De Lima, Gregory P Tochtrop, Nagireddy Putluri, David N Wald

Faculty, Staff and Students Publications

Despite the fact that AML is the most common acute leukemia in adults, patient outcomes are poor necessitating the development of novel therapies. We identified that inhibition of Thioredoxin Reductase (TrxR) is a promising strategy for AML and report a highly potent and specific inhibitor of TrxR, S-250. Both pharmacologic and genetic inhibition of TrxR impairs the growth of human AML in mouse models. We found that TrxR inhibition leads to a rapid and marked impairment of metabolism in leukemic cells subsequently leading to cell death. TrxR was found to be a major and direct regulator of metabolism in AML …

A Novel Incremental Simulation Of Facial Changes Following Orthognathic Surgery Using Fem With Realistic Lip Sliding Effect, Daeseung Kim, Tianshu Kuang, Yriu L Rodrigues, Jaime Gateno, Steve G F Shen, Xudong Wang, Kirhyn Stein, Hannah H Deng, Michael A K Liebschner, James J Xia

Faculty, Staff and Students Publications

Accurate prediction of facial soft-tissue changes following orthognathic surgery is crucial for surgical outcome improvement. We developed a novel incremental simulation approach using finite element method (FEM) with a realistic lip sliding effect to improve the prediction accuracy in the lip region. First, a lip-detailed mesh is generated based on accurately digitized lip surface points. Second, an improved facial soft-tissue change simulation method is developed by applying a lip sliding effect along with the mucosa sliding effect. Finally, the orthognathic surgery initiated soft-tissue change is simulated incrementally to facilitate a natural transition of the facial change and improve the effectiveness …

Triamcinolone With Vitamin D Synergistic Efficacy In Psoriasis, Steven Repas, Jeffrey B. Travers

Medical Student Research Symposium Abstracts and Posters

Psoriasis is one of the most common skin conditions in the United States affecting more than 8 million people. High amounts of vitamin D has been shown to be effective in treatment of psoriasis. It also has a well-documented safety profile at the doses and duration that will be used during this study. Triamcinolone and other topical corticosteroids are considered a first line treatment for mild to moderate psoriasis with a well-documented safety profile. Individually both of these medications have shown effectiveness in the management and treatment of mild to moderate psoriasis. This study is designed to test whether a …

Moderate Heat-Assisted Gene Electrotransfer As A Potential Delivery Approach For Protein Replacement Therapy Through The Skin, Chelsea Edelblute, Cathryn Mangiamele, Richard Heller

Bioelectrics Publications

Gene-based approaches for protein replacement therapies have the potential to reduce the number of administrations. Our previous work demonstrated that expression could be enhanced and/or the applied voltage reduced by preheating the tissue prior to pulse administration. In the current study, we utilized our 16-pin multi-electrode array (MEA) and incorporated nine optical fibers, connected to an infrared laser, between each set of four electrodes to heat the tissue to 43 °C. For proof of principle, a guinea pig model was used to test delivery of reporter genes. We observed that when the skin was preheated, it was possible to achieve …

Deep Simulation Of Facial Appearance Changes Following Craniomaxillofacial Bony Movements In Orthognathic Surgical Planning, Lei Ma, Daeseung Kim, Chunfeng Lian, Deqiang Xiao, Tianshu Kuang, Qin Liu, Yankun Lang, Hannah H Deng, Jaime Gateno, Ye Wu, Erkun Yang, Michael A K Liebschner, James J Xia, Pew-Thian Yap

Faculty, Staff and Students Publications

Facial appearance changes with the movements of bony segments in orthognathic surgery of patients with craniomaxillofacial (CMF) deformities. Conventional bio-mechanical methods, such as finite element modeling (FEM), for simulating such changes, are labor intensive and computationally expensive, preventing them from being used in clinical settings. To overcome these limitations, we propose a deep learning framework to predict post-operative facial changes. Specifically, FC-Net, a facial appearance change simulation network, is developed to predict the point displacement vectors associated with a facial point cloud. FC-Net learns the point displacements of a pre-operative facial point cloud from the bony movement vectors between pre-operative …

Case Report: Dupilumab Successfully Controls Severe Eczema In A Child With Elevated Ige Levels And Recurrent Skin Infections, Tejas P Joshi, Sara Anvari, Meera R Gupta, Carla M Davis, Joud Hajjar

Faculty, Staff and Students Publications

The efficacy of dupilumab in pediatric patients with severe eczema presenting in the setting of elevated immunoglobulin E (IgE) levels and recurrent bacterial skin infections is not well-understood. Here we present the case of a child with elevated IgE levels in whom dupilumab treatment led to remarkable control of his eczema and recurrent skin infections. We also review the use of dupilumab in other patients with molecularly proven cases of hyper IgE (HIGE) syndrome. Our case supports the notion that dupilumab may have a seminal application in treating severe eczema that occurs in the setting of elevated IgE levels and …

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa Mullins, Abigail Russell, Chad Johnston

HCA Healthcare Journal of Medicine

Simpson-Golabi-Behmel syndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmel syndrome have been described, and this case highlights that there may be an association between mutated GPC3 carrier status and other cancers. We present a case of GPC3 gene mutation suggestive …