Skin and Connective Tissue Diseases Commons^™

An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi

Chulalongkorn Medical Journal

Sturge Weber Syndrome is a Phakomatoses group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions due to a mutation in the GNAQ gene. These lesions often are unilateral following the course of the trigeminal nerve.Here we present a case of 54-year-old woman with a history of glaucoma with a unilateral reddish-purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge-Weber syndrome is quite complex and necessitates a multidisciplinary approach. In type 2 cases of Sturge-Weber syndrome, patients present with facial angiomas and glaucoma, …

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 …

Characterizing Global Dermatologic Engagement And Needs: A Cross-Sectional Study From 83 Countries, Alexis G. Strahan, Christine Li, Maud Guérin, Tom Allison, Gene Colón, Jehireh Peraza-Williams, Olyvia Zarchin, Morvarid Zehtab, Ann M. Pacheco, Jadesola Akinwuntan, Shivani Jain, Marlous L. Grijsen, Wendemagegn Enbiale, Wingfield Rehmus, L. Claire Fuller, Karolyn Wanat, Esther E. Freeman

School of Medicine Faculty Publications

No abstract provided.

Mirm In An Adolescent Male: A Diagnostic Challenge And Review Of The Literature, Emily Saurborn, Savannah Carty, Shane Cook, Lauren Tufts

Marshall Journal of Medicine

Mycoplasma-Induced Rash and Mucositis (MIRM) is a subset of Reactive Infectious Mucocutaneous Eruption (RIME), most commonly associated with Mycoplasma pneumoniae. MIRM commonly presents with significant mucositis and mild or absent cutaneous involvement. MIRM exists on a spectrum with Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN). Due to the significant clinical overlap, early diagnosis of MIRM can be challenging. We report a case of a 19-year-old male who presented with a two-day history of worsening throat pain and decreased oral intake after initiating Augmentin for treatment of community acquired pneumonia. During hospitalization, he developed progressive ocular, oral and genital …

Increased Risk Of Renal Disease In Patients With Hidradenitis Suppurativa: A Retrospective Cohort Study Utilizing Trinetx, Tyler Hernandez, Christopher Haas

School of Medicine Faculty Publications

No abstract provided.

A Case Of Granuloma Annulare Mimicking Candidal Intertrigo In The Groin, Scotty Smith, Patrice Perche, Leonard Gately

School of Medicine Faculty Publications

Granuloma annulare (GA) is a benign, non-infectious granulomatous skin condition of uncertain etiology, often presenting as annular erythematous plaques. While commonly localized to the hands and feet, GA has multiple clinical variants and can mimic other dermatologic conditions, leading to diagnostic challenges. We report a rare case of GA localized to the inguinal region in a 55-year-old female initially treated empirically for candidal intertrigo without improvement. Biopsy demonstrated interstitial histiocytic infiltrates dissecting between collagen bundles with increased dermal mucin, confirming a diagnosis of interstitial GA. The patient was subsequently treated with triamcinolone 0.1% ointment and hydroxychloroquine 200 mg twice daily …

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 …

Dermatological Primary Health Care Services For Older Adults In Thailand, Chinmanat Lekhavat, Jiruth Sriratanaban

Journal of Health Research

Background: The increasing population aging worldwide poses challenges to accessibility to dermatological care, especially in rural areas with limited dermatologist availability. Establishing dermatological primary health care (PHC) services for older adults is crucial for improving access, efficiency, and equity. However, no study has systematically explored such a system.

Method: This mixed-methods study employed a participatory action research (PAR) model to identify structural and procedural requirements, patient journeys, health needs, and expectations. Data were collected through focus groups, in-depth interviews, and surveys. Design thinking workshops, guided by PAR principles, were used to develop dermatological PHC services. A survey was conducted across …

Oral Tranexamic Acid Use For Melasma Is Not Associated With Thromboembolism: Findings From A Multicenter Propensity Score–Matched Electronic Health Record Cohort, Tyler Hernandez, Kayla Penny, Nicholas Culotta

School of Medicine Faculty Publications

No abstract provided.

Decreased Risk Of Incident Cancer Among Patients With Vitiligo: A Multicenter Retrospective Cohort Analysis, Rahib K. Islam, Ivan D. Nguyen, Kazi N. Islam, Lacey M. Falgout, Jonathan M. Joseph, Collins T. Langley, Christopher J. Haas

School of Medicine Faculty Publications

No abstract provided.

Synthetic Electrospun Fiber Matrix In The Management Of Acute Wounds Following Excision Of Hidradenitis Suppurativa Lesions: A Prospective Pilot Study, Michael Madueke, Frank Lau

School of Medicine Faculty Publications

Hurley Stage II or III hidradenitis suppurativa (HS) may necessitate surgical excision of diseased skin and subcutaneous fat for symptom control and disease management. These excisions result in open wounds in topographically challenging regions and typically cannot be primarily closed. This study evaluates the use of a synthetic electrospun fiber matrix (SEFM) as a post-resection regeneration template to accelerate re-granulation and improve subsequent skin graft incorporation. This prospective pilot study enrolled Hurley Stage II or III patients undergoing surgical resection of HS lesions. SEFM was applied to the resulting wounds in conjunction with negative pressure wound therapy (NPWT). Patients were …

Delayed Diagnosis Of Systemic Lupus Erythematosus Presenting As Autoimmune Hemolytic Anemia: A Case For Heightened Clinical Suspicion, Diana Acosta Pozo, Luis Álvarez Pérez

Research Colloquium

Background: Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem involvement, including hematologic manifestations. Autoimmune Hemolytic Anemia (AIHA), though an established feature, is relatively uncommon and may occur early or in isolation. When AIHA presents without overt systemic symptoms, the underlying autoimmune etiology may be overlooked, resulting in delays in diagnosis and treatment. Prompt recognition is essential to prevent unnecessary interventions and prolonged morbidity.

Case Presentation: A 39-year-old woman residing in Texas presented to the Rheumatology office with persistent synovitis and severe transfusion-dependent anemia, requiring red blood cell transfusions every 48 hours for over three months. She …

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 …

Practice Patterns In The Management Of Pemphigus – An International Survey Study, Idy Tam, Gabriela Cobos, Zachary M. Schwager, Erin X. Wei

The Lahey Journal

Introduction: Anti-CD20 therapy (rituximab) has emerged as an effective and disease modifying treatment for pemphigus, especially in early disease. However, significant variability exists around the clinical application of this therapy.

Methods: In this survey-based study among bullous disease experts, we investigated practice patterns surrounding the use of rituximab in the management of pemphigus. Anonymized surveys were sent to physician members of the internation Pemphigus and Pemphigoid Foundation. Topics of inquiry included the use of rituximab first line in newly diagnosed pemphigus, rituximab dosing regimen, use of concomitant steroid sparing agents, criteria for retreatment, and the use of antimicrobial prophylaxis.

Results: …

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 …

Cryptococcoid Sweet Syndrome Or Halogenoderma? Highlighting The Crucial Need For Serum Iodine Testing, Jacob R. Kilgore, Jonathan M. Joseph, Addie Walker, William Snider, Nicholas Culotta, Carson Bogatto, Aaron Coulon

School of Medicine Faculty Publications

No abstract provided.

Regulation Of Icer Degradation And Its Role In Melanoma, Justin Wheelan

Theses, Dissertations and Culminating Projects

Melanoma is the deadliest form of skin cancer, with 100,640 new cases and 8,290 deaths estimated in the United States in 2024. While targeted therapies and immunotherapy have improved patient outcomes, resistance remains a major challenge, necessitating new therapeutic approaches. Approximately 50% of melanomas harbor BRAFⱽ⁶⁰⁰ᴱ mutations, leading to constitutive MAPK pathway activation. Targeted small molecule therapies such as BRAF and MEK inhibitors are available and initially reduce tumor burden, however resistance frequently occurs, likely through many pathways including compensatory activation of cAMP signaling. ICER (Inducible cAMP Early Repressor), a transcriptional repressor of CREB-mediated gene expression, is absent in melanoma …

Lichen Planopilaris With Pili Torti And Ectodermal Dysplasia: A Hair Curling Case Report, Collins Langley, Elena Plakotaris, Nicole E. Rogers

School of Medicine Faculty Publications

Introduction: Lichen planopilaris (LPP) is a well-known cicatricial alopecia with a frontal fibrosing variant. LPP has a prevalence rate of 13.4 per 100,000 persons. It is understood that LPP favors the female populations. What is not commonly known is that LPP can be preceded by other signs and symptoms such as pili torti. Case Report: We present a case report of a 70-year-old female whose initial flare of LPP was preceded by a flare of pili torti. This patient's case is also complicated by her history of ectodermal dysplasia. She experienced progressive itching, shedding, and mid-scalp hair loss along with …

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 …