Skin and Connective Tissue Diseases Commons^™

Expanding Treatment Frontiers In Hidradenitis Suppurativa: Double Immunomodulator Therapy In Severe Refractory Cases, Christina Tolete, Adam Friedman, Teresa Duong, Leonardo Tjahjono

Student Papers, Posters & Projects

No abstract provided.

Symmetrical Drug-Related Intertriginous And Flexural Exanthema Associated With Tirzepatide, William Goodman, Karan Pandher, Mahaa Ayub

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Broad Laboratory Testing Does Not Show Utility For Telogen Effluvium: A Retrospective Analysis Of 22-Million Laboratory Results Using Trinetx, Zachary J.K. Neubauer, Shari R. Lipner

Student Papers, Posters & Projects

No abstract provided.

Systematic Review And Meta-Analysis Of Placebo Cure In Onychomycosis Clinical Trials, Julianne M. Falotico, Zachary J.K. Neubauer, Anjile An, Shari R. Lipner

Student Papers, Posters & Projects

No abstract provided.

Systemic Sclerosis-Associated Interstitial Lung Disease: Improved Understanding And Advances In Management, Amit Syal, Chris T. Derk

Student Papers, Posters & Projects

Interstitial lung disease (ILD), a common manifestation of systemic sclerosis (SSc), has the highest organ-specific morbidity and mortality, particularly in patients with diffuse cutaneous SSc (dcSSc). Recent advances in diagnostics-including artificial intelligence (AI)-enhanced high-resolution computed tomography (HRCT) and biomarkers such as Krebs van den Lungen (KL)-6-have enabled earlier detection and monitoring of disease progression. Therapeutically, the approval of antifibrotics like nintedanib (NINT) and immunomodulators such as tocilizumab (Toci) has significantly expanded treatment options. Updated international guidelines from the American College of Rheumatology (ACR), American College of Chest Physicians (CHEST), American Thoracic Society (ATS), and European league against Rheumatism (EULAR) now …

Neutrophil Lymphocyte Ratio As A Marker Of Skin Disease Activity In Older Children With Juvenile Dermatomyositis, Shreya Swaminathan, Nidhi Naik, Susan Shenoi, Sarah Vandenbergen, Jessica L. Turnier, Zilan Zheng, Jessica Neely, James S. Andrews, Christian Lood

Student Papers, Posters & Projects

BACKGROUND: Neutrophils contribute to the pathogenesis of many autoimmune diseases. While the neutrophil to lymphocyte ratio (NLR) is associated with disease activity in adult dermatomyositis, its clinical utility in juvenile dermatomyositis (JDM) is unknown.

METHODS: Demographic, medication use, autoantibody profile, disease activity markers, and laboratory data from 97 JDM patients was collected using retrospective chart review. Patients were age-stratified (0–9 vs. 9–21 years of age), as white blood cell count stabilizes at 9 years. The relationships between NLR with JDM disease activity measures were analyzed using spearman’s correlation.

RESULTS: Patients were primarily white (56.7%) and female (71.1%). Older children had …

Three-Dimensional Human Mucopolysaccharidosis Iva Chondrocyte Culture Reveals Significant Impairments In The Lysosomal-Mitochondrial Crosstalk, Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes. Given the interactions of lysosomes with various intracellular organelles, it is not surprising that lysosomal dysfunction can lead to improper functioning of lysosome-interacting organelles such as mitochondria. Mitochondrial alterations have been evaluated in several LSDs; nevertheless, they have not been fully addressed in MPS IVA. In this study, we assessed the mitochondrial alterations in MPS IVA chondrocytes using a three-dimensional culture approach. Our findings revealed that MPS IVA …

Efficacy And Safety Of Rigosertib In Patients With Recessive Dystrophic Epidermolysis Bullosa-Associated Advanced/Metastatic Cutaneous Squamous Cell Carcinoma, Martin Laimer, Andrew P. South, Elisabeth Mayr, Sophie Kitzmueller, Lauren Banner, Michael Alexander, Linda Hosler, Henry Yang, Matthew Parris, Meena Arora, Georg Zimmermann, Gregor Schweighofer-Zwink, Johann Bauer, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an epithelial fragility disease primarily affecting the skin and is caused by variants in the COL7A1 gene. Individuals with RDEB are predisposed to develop highly aggressive cutaneous squamous cell carcinomas (SCCs) which are the most common cause of premature death. There is a lack of effective prevention or treatment options for patients with RDEB-SCC.

OBJECTIVES: To evaluate the antitumour activity and safety of the polo-like kinase-1 (PLK1) inhibitor, rigosertib, two investigator-initiated open-label, single-arm phase II studies were opened in Europe and the USA and enrolled five patients with RDEB diagnosed with locally advanced …

Usage And Behavioral Data Of Consumers Using Hair Dye Products Containing 2-Methoxymethyl-P-Phenylenediamine, Monika Kock, Carsten Goebel, Lidia Mihailescu, Maike Seib, Agnieszka Malesa, Anthony Gaspari, Brunhilde Blömeke

Department of Dermatology and Cutaneous Biology Faculty Papers

The potent sensitizer PPD is considered a key sensitizer in hair dye contact allergy. Modification of its molecular structure to 2-methoxymethyl-p-phenylenediamine (ME-PPD) reduces its skin sensitizing potency. We investigated the usage, behavior, and tolerance profile of ME-PPD-containing professional hair color products in a specifically tailored proactive market surveillance program in hairdresser salons across 5 countries. Hairdressers completed record cards for their clients, which were evaluated at the end of the program. 497 individuals received in total 2461 hair color treatments with ME-PPD-containing hair color. Feedback on compatibility was provided for 194 individuals: 6 individuals reported intolerance reactions, which were assessed …

Determining Risk Factors And Rate Of Surgery After Collagenase Injections For Dupuytren Contracture, Ryan C. Cha, Juliet S. Chung, Sina Ramtin, Asif M. Ilyas

Department of Orthopaedic Surgery Faculty Papers

Purpose: Collagenase injections are a nonsurgical treatment for Dupuytren contracture, but their long-term effectiveness in preventing surgery remains unclear. This study aimed to evaluate the rate of surgical intervention following collagenase treatment and identify whether specific risk factors increase the likelihood of future surgical correction. Methods: This retrospective cohort study utilized the TriNetX US Collaborative network to identify patients diagnosed with Dupuytren contracture between January 2007 and September 2024. Patients initially treated with collagenase injections were identified using relevant current procedural terminology codes. Procedure-specific current procedural terminology codes were then used to determine which patients underwent a subsequent fasciectomy or …

Identification Of Serum Exosome Proteins In Systemic Sclerosis With Interstitial Lung Disease By Aptamer Proteomics, Sonsoles Piera-Velazquez, Simon T. Dillon, Xuesong Gu, Towia A. Libermann, Sergio A. Jimenez

Jefferson Institute of Molecular Medicine Papers and Presentations

OBJECTIVE: A major unmet need for Systemic Sclerosis (SSc) clinical management is the absence of well validated biomarkers for early diagnosis of SSc-associated interstitial lung disease (SSc-ILD). The objective of this study was to identify proteins contained within serum exosomes that may serve as potential biomarkers to differentiate patients with Diffuse SSc without SSc-ILD from patients with Diffuse SSc with SSc-ILD employing aptamer-based proteomics.

METHODS: Serum exosomes were isolated from two cohorts of patients. The first cohort included 15 patients with Diffuse SSc without SSc-ILD and 14 patients with Diffuse SSc with SSc-ILD and the second cohort included 12 patients …

Cross-Sectional Analysis Of Wound-Associated Soluble Factors In Early, Established, And Chronic Wounds Of Recessive Dystrophic Epidermolysis Bullosa Patients, Vitali Alexeev, Leonie Huitema, Taylor Phillips, Paras Patel, Mauricio Garza, Franziska Ringpfeil, Julio Salas-Alanis, Olga Igoucheva

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Poorly healing wounds represent the primary health-related burden for hereditary recessive dystrophic epidermolysis bullosa (RDEB) patients. Contribution of wound-associated soluble constituents to wound progression remains not well defined.

OBJECTIVE: To conduct cross-sectional analysis of cytokine, chemokine, and growth factor in exudates from RDEB wounds and define changes associated with wound progression.

METHODS: Concentrations of selected cytokines, chemokines, and growth factors were evaluated by multiplex ELISA in eight blister fluids and 66 exudates from early, established, and chronic RDEB and five chronic venous ulcers (VU). A cross-sectional analysis was performed.

RESULTS: Our data demonstrated that proinflammatory CXCL8 and IL-1β tend …

The Risk Of Interstitial Lung Disease In Psoriatic Arthritis Versus Psoriasis: A Retrospective Nationwide Database Analysis (2014-24), Andrew Engel, Christopher Xie, Ross Summer, Giorgos Loizidis

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

OBJECTIVES: Psoriasis (PsO) is a systemic autoimmune disease primarily characterized by erythematous plaques on the skin. While extra-dermal manifestations like psoriatic arthritis (PsA) are well recognized, data linking PsO to interstitial lung disease (ILD) remain limited. This study aimed to evaluate whether patients with PsA have a higher risk of developing ILD compared with patients with PsO.

METHODS: A retrospective analysis of the TriNetX US database (2014-24) was performed. Adult patients with PsO or PsA treated with systemic immunosuppressive medications were included, excluding those with other autoimmune diseases. ILD risk in PsO and PsA cohorts was compared with a reference …

Facial Follicular Porokeratosis Simulating Discoid Lupus Erythematosus In An African American Woman, Pritika Singh, Layna Mager, Jeffrey Y. Liu, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Periumbilical Perforating Pseudoxanthoma Elasticum, Ana L. Duarte-Summers, Anna Chen, Morgan E. Sussman-Mccrea, Shayan Waseh, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Hidradenitis Suppurativa Is Associated With An Increased Risk Of Adverse Cardiac Events And All-Cause Mortality, Thomas Z. Rohan, Ramsay Hafer, Teresa Duong, Rishob Dasgupta, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

Background: Hidradenitis suppurativa (HS) has been previously associated with greater rates of major adverse cardiac events (MACEs) compared to the general population. This study aims to better elucidate the association between HS, MACEs, and other cardiovascular diseases. Methods: We utilized TriNetX, a global database of electronic health records, to conduct a retrospective cohort study. HS patients were matched on demographic and cardiovascular disease risk factors to both healthy and psoriasis groups as controls. Results: After adjusting for cardiovascular disease risk factors, HS patients had a relative risk (RR) (95% CI) of 2.06 (1.83-2.32) for myocardial infarction, 1.62 …

Modern Digital Query Analytics Of Patient Education Materials On Acanthosis Nigricans: Systematic Search And Content Analysis, Kevin Johny Varghese, Som Singh, Emily Kamali, Fahad Qureshi, Aleena Jamal, Fawad Qureshi

SKMC Student Presentations and Publications

BACKGROUND: Online digital materials are integral to patient education and health care outcomes in dermatology. Acanthosis nigricans (AN) is a common condition, often associated with underlying diseases such as insulin resistance. Patients frequently search the internet for information related to this cutaneous finding. To our knowledge, the quality of online educational materials for AN has not been systematically examined.

OBJECTIVE: The primary objective of this study was to profile the readability and quality of the content of publicly available digital educational materials on AN and identify questions frequently asked by patients.

METHODS: This study analyzed publicly available internet sources to …

A Clinician’S Guide To Pediatric And Adolescent Alopecia Areata Treatments, Heli A. Patel, Rishab R. Revankar, Jenna E. Koblinski, Benjamin Ungar, Emma Guttman-Yassky, Jamie B. Mackelfresh, Dirk Elston, Peter Lio

Student Papers, Posters & Projects

Background: Available treatment options for pediatric alopecia areata are limited and may even exacerbate the physical and psychosocial burden. Objective: This article aimed to provide a treatment classification system and counseling recommendations. Recommendations: Topical corticosteroids are appropriate for initial treatment due to their ease of use and safety. Topical minoxidil and dithranol are often used as adjunctive treatments based on mixed data. Intralesional corticosteroids are effective for localized disease, but injections may be challenging in children. Contact immunotherapy, systemic corticosteroids, and immunosuppressive agents such as topical and oral Janus kinase (JAK) inhibitors, dupilumab, and low-dose methotrexate demonstrate varying effectiveness, adverse …

Deoxycholic Acid Injections As A Nonsurgical Treatment For Lipomas In Adiposis Dolorosa (Dercum Disease), Zvi Schwartz, Kayla Brockmeyer, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

Adiposis dolorosa (Dercum disease) is a rare condition characterized by diffuse and recurring painful lipomas on the trunk and extremities. Patients are typically middle-aged females with an elevated BMI presenting with chronic pain. Physical examination reveals soft subcutaneous nodules and masses, tender to palpation. The associated pain significantly impacts quality of life and requires therapeutic intervention. The most common treatment option is surgical excision. Alternative options should be considered for patients with numerous lipomas where surgical management is not practical or is not desired. Deoxycholic acid injections are a viable alternative non-surgical technique. We present a case of a 55-year-old …

Drug-Induced Subacute Cutaneous Lupus Erythematous From Cenobamate: Case Presentation And Review Of The Literature, Safiyyah Bhatti, Daniel Joffe, Timothy Webster, Jason Lee, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

A 68-year-old woman with a history of seizures on cenobamate presented with an itchy rash all over her body. The rash started about one month prior to her presentation to the dermatology clinic. The rash was initially treated with topical triamcinolone with improvement at one-month follow-up. However, four months later the rash flared and there was concern that cenobamate was the cause. Biopsy was performed showing vacuolar interface dermatitis with atrophy, suggestive of subacute lupus erythematosus. Blood work revealed positive antinuclear antibody, anti-ribonucleoprotein antibody, Sjogren Anti-SS-A and positive histone antibody. Given the worsening rash, positive labs, and cenobamate as the …

Skin Necrosis Following Digital Wart Intralesional Injection Of Cantharidin, Sebastian Arango, Tristan Weir, Andrew Miller, Meredith Osterman

Department of Orthopaedic Surgery Faculty Papers

A right-hand-dominant female presented 5 weeks following a right middle finger intralesional cantharidin injection for a common wart by a dermatologist. The patient experienced progressive stiffness, blistering, swelling, pain, and ultimately, full-thickness skin necrosis surrounding the injection site. Careful debridement followed by a full-thickness skin graft was performed with no evidence of involvement of the germinal matrix or terminal extensor tendon. At the 7-month postoperative mark, the patient’s graft exhibited favorable healing and improved functionality that did not require further follow-up. Intralesional injection of cantharidin solutions for digital warts leads to progressive skin necrosis. Our case required prompt debridement and …

Increased Risk Of Cutaneous T-Cell Lymphoma Development After Dupilumab Use For Atopic Dermatitis, Jenna Mandel, Jaanvi Mehta, Ramsay Hafer, Mahaa Ayub, Faria Nusrat, Henry Yang, Pierluigi Porcu, Neda Nikbakht

Department of Dermatology and Cutaneous Biology Faculty Papers

There have been several reports of dupilumab use and the development of CTCL; however, the risk of CTCL development has not been adequately evaluated at the population level. The objective of this study is to determine whether dupilumab administration for AD is associated with an increased risk of developing CTCL and to identify at-risk populations within this group. This retrospective cohort study used TriNetX, a deidentified medical record database including over 107 million patients, to identify eligible patients. Treatment and control groups were evaluated for the development of CTCL. Patients of any age with a documented diagnosis of AD were …

Hairy Tongue Associated With The Use Of Baricitinib Therapy For Ophiasis Pattern Alopecia Areata, Anthony Gaspari

Department of Dermatology and Cutaneous Biology Faculty Papers

We report a case of hairy tongue that developed in a young Caucasian
/="/">woman during systemic baricitinib therapy for severe alopecia areata.
/="/">Because she experienced good clinical regrowth of her hair during
/="/">treatment, she did not want to interrupt therapy. We recommended she
/="/">use a toothbrush to debride her tongue on a daily basis, which was
/="/">successful. Hairy tongue most commonly occurs in elderly, debilitated
/="/">males with poor oral hygiene. It is thought to occur because of overgrowth
/="/">of chromogenic bacteria and/or yeast on the tongue. This unusual side
/="/">effect during baricitinib …

Skin Barrier Function: The Interplay Of Physical, Chemical, And Immunologic Properties, Paola Baker, Christina Huang, Rakan Radi, Samara B Moll, Emmanuela Jules, Jack L Arbiser

Student Papers, Posters & Projects

An intact barrier function of the skin is important in maintaining skin health. The regulation of the skin barrier depends on a multitude of molecular and immunological signaling pathways. By examining the regulation of a healthy skin barrier, including maintenance of the acid mantle and appropriate levels of ceramides, dermatologists can better formulate solutions to address issues that are related to a disrupted skin barrier. Conversely, by understanding specific skin barrier disruptions that are associated with specific conditions, such as atopic dermatitis or psoriasis, the development of new compounds could target signaling pathways to provide more effective relief for patients. …

An Unusual Presentation Of Pigmented Purpuric Lichenoid Dermatitis, Christine De Antonis, Jordan T. Hyde, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

Pigmented purpuric lichenoid dermatitis (PPLD) is a rare subtype of pigmented purpuric dermatosis, which classically presents with a mixture of lichenoid papules and patches on the bilateral lower extremities. Herein, we describe an unusual case of a 47-year-old man with PPLD who presented with 1-3mm discrete papules without the presence of larger patches. The diagnosis of PPLD should be considered for patients presenting with bilateral symmetric discrete papules on the legs.

Fibroblasts-Warriors At The Intersection Of Wound Healing And Disrepair, Jesse Roman

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

Wound healing is triggered by inflammation elicited after tissue injury. Mesenchymal cells, specifically fibroblasts, accumulate in the injured tissues, where they engage in tissue repair through the expression and assembly of extracellular matrices that provide a scaffold for cell adhesion, the re-epithelialization of tissues, the production of soluble bioactive mediators that promote cellular recruitment and differentiation, and the regulation of immune responses. If appropriately deployed, these processes promote adaptive repair, resulting in the preservation of the tissue structure and function. Conversely, the dysregulation of these processes leads to maladaptive repair or disrepair, which causes tissue destruction and a loss of …

Trametinib-Induced Epidermal Thinning Accelerates A Mouse Model Of Junctional Epidermolysis Bullosa, Grace Tartaglia, Pyung Hung Park, Michael H. Alexander, Alexander Nyström, Joel Rosenbloom, Andrew P. South

Department of Dermatology and Cutaneous Biology Faculty Papers

Junctional epidermolysis bullosa (JEB) patients experience skin and epithelial fragility due to a pathological deficiency in genes associated with epidermal adhesion. Disease severity ranges from post-natal lethality to localized skin involvement with persistent blistering followed by granulation tissue formation and atrophic scarring. We evaluated the potential of utilizing Trametinib, an MEK inhibitor previously shown to target fibrosis, with and without the documented EB-anti-fibrotic Losartan for reducing disease severity in a mouse model of JEB; Lamc2jeb mice. We found that Trametinib treatment accelerated disease onset and decreased epidermal thickness, which was in large part ameliorated by Losartan treatment. Interestingly, a range …

Alopecia In Patients With Collagen Vi-Related Myopathies: A Novel/Unrecognized Scalp Phenotype, Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini

Department of Dermatology and Cutaneous Biology Faculty Papers

Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of …