Medicine and Health Sciences Commons^™

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 …

Therapeutics Development For Pseudoxanthoma Elasticum And Related Ectopic Mineralization Disorders: Update 2020., Hongbin Luo, Qiaoli Li, Yi Cao, Jouni Uitto

Department of Dermatology and Cutaneous Biology Faculty Papers

Pseudoxanthoma elasticum (PXE), the prototype of heritable ectopic mineralization disorders, manifests with deposition of calcium hydroxyapatite crystals in the skin, eyes and arterial blood vessels. This autosomal recessive disorder, due to mutations in ABCC6, is usually diagnosed around the second decade of life. In the spectrum of heritable ectopic mineralization disorders are also generalized arterial calcification of infancy (GACI), with extremely severe arterial calcification diagnosed by prenatal ultrasound or perinatally, and arterial calcification due to CD73 deficiency (ACDC) manifesting with arterial and juxta-articular mineralization in the elderly; the latter disorders are caused by mutations in ENPP1 and NT5E, respectively. The …

Prevalence Of Nail Changes In Patients Infected With Hiv - A Cross Sectional Study, Seethalakshmi Ganga Vellaisamy, Priya Jeyaraman, Kannan Gopalan

Journal of General - Procedural Dermatology & Venereology Indonesia

Introduction: The spectrum of nail changes is wider and their frequency is higher among HIV patients. These changes magnify the range and multiplicity of AIDS manifestations. Their systematic examination is a non-invasive method of possible diagnostic value.

Objective: The present study was conducted to study the frequency and types of nail changes in HIV infected individuals and to correlate the severity of nail changes with CD4 count.

Material and Method: This was a cross sectional study, conducted in Skin & STD Out-Patient department in a tertiary care hospital between March 2018 and April 2019. A total of …

The Management Of Seborrheic Dermatitis 2020, Sandra Widaty, Kusmarinah Bramono, Muhammad Yulianto Listiawan, Ariyati Yosi, Eliza Miranda, Githa Rahmayunita, Herwinda Brahmanti, Henry W. Lim

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: Seborrheic dermatitis (SD) is a chronic relapsing dermatitis manifesting in the seborrheic area, affecting infants or adults. In Indonesia, the prevalence of SD is 0.99–5.8% of all dermatology cases from 2013 to 2015. SD has been known to be a prominent manifestation among HIV patients, but there is an increasing trend in the general population. Therefore, in 2017, the Indonesian Society for Dermatology and Venereology proposed a consensus for the management of SD in Indonesia based on the discussion from 12 dermatological centers. Concurrent with the development of new drugs, this study aims to evaluate and develop a …

Efficacy Of 3d-Pore Sanitary Napkin On Mild-To-Moderate Irritant Contact Dermatitis In The Female Genital Area, Srie Prihianti Gondokaryono, Hanny Nilasari, Inge Ade Krisanti, Tia Febrianti, Herliyani Purba, Haruko Toyoshima, Danang Agung Yunaidi

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: Women worldwide have their own strategies to cope with menstruation, and unhygienic menstrual practices often cause vaginal diseases. During menstruation, the skin is irritated by the remaining unabsorbed menstrual flow and sweat on sanitary pads. Irritation of vulvar skin by an external agent could cause contact dermatitis, which is an important contributor to vulvar diseases. Various sanitary napkins available today share similar materials. This study compared commonly used sanitary napkin among Indonesian women with 3D-pore sanitary napkin in terms of efficacy.

Methods: A randomized, controlled, single blind, crossover study of 72 participants who met the inclusion and …

Lucio’S Phenomenon: A Report On Six Patients In A Tertiary Referral Hospital In Indonesia, Melani Marissa, Rahadi Rihatmadja, Denny Surya, Henry W. Lim, Sri Linuwih Menaldi

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: Lucio's phenomenon (LP) is a rare variant of leprosy reaction, with the clinical manifestation of “necrotizing erythema.” LP was observed in patients with lepromatous leprosy who have not received or completed the treatment, and it is especially evident in patients with diffuse lepromatous leprosy (DLL), known as Lucio-Latapi’s leprosy. LP occurs due to M. leprae invading the blood vessels, causing endothelial damage that leads to thrombosis, ischemia, infarction, and tissue necrosis. The clinical features of the disease are erythematous lesions that can be accompanied by vesicles or bullae, with ulcers forming scar tissues. Histopathological examination can help establish …

Purpuric Lesion In A Patient With Leprosy: Was It A Lucio’S Phenomenon Or An Epiphenomenon?, Sri Linuwih Menaldi, Melani Marissa, Inadia Putri Chairista, Henry W. Lim, Rahadi Rihatmadja

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: Lucio’s phenomenon (LP) is a severe necrotizing cutaneous reaction that occurs in patients with Lucio’s leprosy. The exact pathomechanism is not fully understood, but typically abundant acid-fast bacilli in the walls of blood vessels point to direct perturbation of blood supply to the epidermis. We report a case of LP where epidermal necrosis occurred in the absence of vascular invasion by mycobacteria, raising the question whether this was an epiphenomenon or a true LP.

Case Illustration: A 34-year-old male was referred for an episodic swelling of his hands and feet that persisted for two years. There were …

Reversal Reaction With Nodules Clinical Manifestations That Initially Diagnosed As Erythema Nodosum Leprosum In Borderline Lepromatous Leprosy, Laila Tsaqilah, Pati Aji Achdiat, Hendra Gunawan

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: The reversal leprosy reaction generally manifest as larger, swollen, red and shiny the pre-existing skin lesions which are accompanied with pain. This reaction can be manifest as infiltration and nodules which resembles the features of erythema nodosum leprosum (ENL) leprosy reaction.

Case Illustration: We present a case of 26-year-old woman with erythematous nodules on almost all the body since two weeks ago. She had pre-existing erythema plaque on the right elbow became more erythematous and arouse with partially felt pain, fever, and malaise. Nodule lesions in BL leprosy with reaction need to be distinguished between ENL and …

Cutaneous Candidiasis Mimicking Inverse Psoriasis Lesion In A Type 2 Diabetes Mellitus Patient, Steven Philip Surya, Kardiana Purnama Dewi, Regina Regina

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: Type 2 diabetes mellitus (T2DM) condition could affect the skin. The disease is among the greatest risk factors of skin infection such as cutaneous candidiasis and is also associated with autoimmune skin diseases such as psoriasis, which lesion morphologies and predilection areas are quite similar. These similarities are a source of confusion to clinicians.

Case illustration: We present a 60-year-old female patient with uncontrolled T2DM and multiple erythematous plaques in the form of shiny lesions at the intertriginous area that developed 1 week prior to her hyperglycemic state. The lesions had recurred at the same site for …

Correlation Between Clinical And Histopathological Findings Of Five Puzzling Cases Of Cutaneous Tuberculosis, Eliza Miranda, Sandra Widaty, Sondang Pandjaitan Sirait, Luddwi Achmad Rizky, Sri Linuwih Menaldi, Henry W. Lim

Journal of General - Procedural Dermatology & Venereology Indonesia

Background: Cutaneous tuberculosis refers to the clinical manifestation of extrapulmonary tuberculosis affecting the skin. Determining the type of cutaneous tuberculosis from a patient afflicted with is challenging because clinical and histopathological similarities exist between types. Moreover, confirming a diagnosis of cutaneous tuberculosis is difficult because of its similarity with other diseases. For instance, typical and atypical cutaneous tuberculosis may have similar manifestations, but each disease is managed by completely different approaches. Microbiological examination with polymerase chain reaction and bacterial culture are the gold standard methods used to confirm a diagnosis of cutaneous tuberculosis. However, results often demonstrate negative findings. …

Pd1 Inhibitor Induced Inverse Lichenoid Eruption: A Case Series, Mansha Sethi, Vaibhav Garg, Jason Lee, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

The increased use of monoclonal antibodies that target the immune checkpoint T cell receptor programmed death-1 (PD1) to treat numerous solid tumors has led to several reports describing associated cutaneous adverse events. Although lichenoid reactions have been well described, we propose that PD1 inhibitor-induced inverse lichenoid eruption (PILE) is a distinct variant. We describe two patients who presented with nearly identical deeply erythematous, malodorous, eroded anogenital plaques with focal crusting. Diagnosis of PILE was established given the biopsy findings and temporal association with PD1 inhibitor therapy. Treatment with clobetasol ointment was successful without necessitating discontinuation of immunotherapy. The findings were …

Low-Dose Psoralen–Uv-A Maintenance Therapy Prolongs Disease-Free Remission Rates In Mycosis Fungoides Patients, Joshua M. Brady

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using Vieyra-Garcia P, Fink-Puches R, Porkert S, et al. Evaluation of Low-Dose, Low-Frequency Oral Psoralen–UV-A Treatment With or Without Maintenance on Early-Stage Mycosis Fungoides. JAMA Dermatology. 2019;155(5):538. https://doi.org/10.1001/jamadermatol.2018.5905 for a patient weighing whether to continue treatment in light of socioeconomic circumstances.

Arrhythmogenic Right Ventricular Cardiomyopathy In Patients With Biallelic Jup-Associated Skin Fragility., Hassan Vahidnezhad, Leila Youssefian, Masoomeh Faghankhani, Nikoo Mozafari, Amir Hossein Saeidian, Fatemeh Niaziorimi, Fahimeh Abdollahimajd, Soheila Sotoudeh, Fateme Rajabi, Liaosadat Mirsafaei, Zahra Alizadeh Sani, Lu Liu, Alyson Guy, Sirous Zeinali, Ariana Kariminejad, Reginald T. Ho, John A Mcgrath, Jouni Uitto

Department of Dermatology and Cutaneous Biology Faculty Papers

Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype-phenotype correlations regarding the penetrance of cardiac involvement, and age of onset have not been well established. We examined a cohort of 362 families with skin fragility to screen for genetic mutations with next-generation sequencing-based methods. In two unrelated families, a previously unreported biallelic mutation, JUP: c.201delC; p.Ser68Alafs*92, was disclosed. The consequences of this mutation were determined by expression profiling both at tissue and ultrastructural levels, and the patients were evaluated by cardiac and cutaneous work-up. Whole-transcriptome sequencing by RNA-Seq revealed JUP as …

Plasma Inorganic Pyrophosphate Deficiency Links Multiparity To Cardiovascular Disease Risk., Almudena Veiga-Lopez, Visalakshi Sethuraman, Nastassia Navasiolava, Barbara Makela, Isoken Olomu, Robert Long, Koen Van De Wetering, Ludovic Martin, Tamas Aranyi, Flóra Szeri

Department of Dermatology and Cutaneous Biology Faculty Papers

Epidemiological studies indicate that elevated alkaline phosphatase activity is associated with increased cardiovascular disease risk. Other epidemiological data demonstrate that mothers giving multiple childbirths (multipara) are also at increased risk of developing late-onset cardiovascular disease. We hypothesized that these two associations stem from a common cause, the insufficient plasma level of the ectopic mineralization inhibitor inorganic pyrophosphate, which is a substrate of alkaline phosphatase. As alkaline phosphatase activity is elevated in pregnancy, we hypothesized that pyrophosphate concentrations decrease gestationally, potentially leading to increased maternal vascular calcification and cardiovascular disease risk in multipara. We investigated plasma pyrophosphate kinetics pre- and postpartum …

Discordant Responses Between Primary Head And Neck Tumors And Nodal Metastases Treated With Neoadjuvant Nivolumab: Correlation Of Radiographic And Pathologic Treatment Effect., Dante J. Merlino, Jennifer M. Johnson, Madalina Tuluc, Stacey Gargano, Robert Stapp, Larry Harshyne, Benjamin E. Leiby, Adam Flanders, Ralph Zinner, Rita Axelrod, Joseph Curry, David M. Cognetti, Kyle Mannion, Young J. Kim, Ulrich Rodeck, Athanassios Argiris, Adam J. Luginbuhl

Department of Medical Oncology Faculty Papers

PD-1 blockade represents a promising treatment in patients with head and neck squamous cell carcinoma (HNSCC). We analyzed results of a neoadjuvant randomized window-of-opportunity trial of nivolumab plus/minus tadalafil to investigate whether immunotherapy-mediated treatment effects vary by site of involvement (primary tumor, lymph nodes) and determine how radiographic tumor shrinkage correlates with pathologic treatment effect.

Patients and Methods: Forty-four patients enrolled in trial NCT03238365 were treated with nivolumab 240 mg intravenously on days 1 and 15 with or without oral tadalafil, as determined by random assignment, followed by surgery on day 31. Radiographic volumetric response (RVR) was defined as percent …

The Effects Of Moderate-Severe Plaque Psoriasis On Patient Well-Being And Prevention Of Flares, Glenn Devera

Nursing | Senior Theses

Psoriasis is a chronic skin condition that is indicated by red, patchy and scaly skin that can be painful when irritated. Patients with psoriasis have an increased risk for a number of chronic diseases. Despite the expansion of treatments for moderate-to-severe psoriasis over the last decade, patients may still find that treatment strategies are not as successful, leaving them dissatisfied with their treatments. A relationship built upon trust between the nurse and the patient diagnosed with psoriasis may serve to help ensure optimal care. A comprehensive literature review was performed and found that best practices for patient management need to …

Bullous Hemorrhagic Sweet Syndrome With Cryptococcoid Neutrophils In Patients Positive For Antineutrophil Cytoplasmic Antibody Without Primary Vasculitis., Alex Sherban, Collin Fuller, Mansha Sethi, Eleni Mcgeehin, Dawn Hirokawa, Courtney Guerrieri, Jason B. Lee, Md, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Cutaneous Manifestations Of Covid-19: Case Report And Discussion, Abigail Russell, Gary Gross, Vashist Nobbee

HCA Healthcare Journal of Medicine

Introduction: Various cutaneous manifestations of COVID-19 have been described and awareness of these findings is beneficial for clinicians for an accurate diagnosis.

Clinical Findings: We present a case of skin findings consistent with acral microthrombi induced changes in an elderly gentleman who was positive for COVID-19.

Outcomes: The patient had a mild course of COVID-19. Cutaneous findings resolved after one week from presentation with supportive care.

Conclusions: This case highlights the importance of awareness of manifestations of COVID-19, which may assist in timely diagnosis and prevention of transmission.

A Systematic Review And Meta-Analysis: Evaluatia Systematic Review And Meta-Analysis: Evaluation Of The Β-Human Papillomavirus In Immunosuppressed Individuals With Cutaneous Squamous Cell Carcinoma With Cutaneous Squamous Cell Carcinoma, Mazaher Ramezani, Farideh Baharzadeh, Afshin Almasi, Masoud Sadeghi

BioMedicine

Background: Some types of beta-human papillomavirus (β-HPV) may be one of the probable causes of squamous cell carcinoma (SCC) in transplant recipients. β-HPVs are linked to SCC in the literature with small number of subjects. Aim: Herein, the first meta-analysis was carried out on the association between β-HPVs and cutaneous SCC in immunosuppressed patients. Methods: A systematic search was carried out in the PubMed and Scopus databases up to December 2018. The odds ratio (OR) were calculated by RevMan 5.3 software and the event rate (ER) by Comprehensive Meta-Analysis 2.0 software with a 95% confidence interval (CI). …

A Dog Lover's Dilemma: Airborne Allergic Contact Dermatitis To Tylosin., Aditi Kale, Anthony A Gaspari

Department of Dermatology and Cutaneous Biology Faculty Papers

Airborne allergic contact dermatitis (AACD) can be caused by airborne chemicals settling on exposed body parts. Repeated exposure to an allergen can induce AACD in the areas of exposed skin (typically, the face, hands, and forearms).

Case Report: A 67-year-old White woman presented in October 2019 with a 4-month history of severe pruritic facial and hand dermatitis, which began in June or July 2019.

An Exploration Of Facial Skin Scarring, Its Impact And Contemporary Evaluation, Michael G. Brandt

Electronic Thesis and Dissertation Repository

Facial skin cancer secondary to surgical treatment may be distressing due to the malignancy itself and from the consequences of its treatment. A visible postsurgical scar is an obvious reminder of the condition. This investigation sought to broaden our understanding of facial scarring and develop a novel tool for its objective evaluation. To this end, skin cancer as the most common etiology of facial scarring was reviewed. The scar scale literature was evaluated in the context of assessing scars through a biopsychosocial lens. Finally, the development of a novel scar scale was presented. Thirty-four individuals completed 13,056 ratings using a …

Congenital Muscular Dystrophy-Associated Inflammatory Chemokines Provide Axes For Effective Recruitment Of Therapeutic Adult Stem Cell Into Muscles, Vitali Alexeev, Jacquelyn Olavarria, Paolo Bonaldo, Luciano Merlini, Olga Igoucheva

Department of Dermatology and Cutaneous Biology Faculty Papers

Background: Congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of neuromuscular disorders characterized by muscle weakness. The two most prevalent forms of CMD, collagen VI-related myopathies (COL6RM) and laminin α2 deficient CMD type 1A (MDC1A), are both caused by deficiency or dysfunction of extracellular matrix proteins. Previously, we showed that an intramuscular transplantation of human adipose-derived stem cells (ADSC) into the muscle of the Col6a1-/- mice results in efficient stem cell engraftment, migration, long-term survival, and continuous production of the collagen VI protein, suggesting the feasibility of the systemic cellular therapy for COL6RM. In order for this …

Actinic Granuloma Responding To Doxycycline, George M. Jeha, Kathryn Olivier Luckett, Lauren Kole

School of Medicine Faculty Publications

No abstract provided.

Evaluating Dermatology Residents Combined Oral Contraceptive Pill Prescribing Practices, Knowledge Base, And Comfort Level In The Management Of Acne Vulgaris, Shane M. Swink Do, Ms, Megan Jones-Sheets Do, Ankita Sinharoy Mbbs, Mph, Melissa Butt, Anthony J. Gust Md, Andrea Zaenglein Md

Department of Medicine

No abstract provided.

Aberrant Recruitment Of Leukocytes Defines Poor Wound Healing In Patients With Recessive Dystrophic Epidermolysis Bullosa., Taylor Phillips, Leonie Huitema, Rodrigo Cepeda, Diego De Los Cobos, Regina Isabella Matus Perez, Mauricio Salas Garza, Franziska Ringpfeil, Bahar Dasgeb, Jouni Uitto, Julio Cesar Salas-Alanis, Vitali Alexeev, Olga Igoucheva

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Poorly healing wounds are one of the major complications in patients suffering from recessive dystrophic epidermolysis bullosa (RDEB). At present, there are no effective means to analyze changes in cellular and molecular networks occurring during RDEB wound progression to predict wound outcome and design betted wound management approaches.

OBJECTIVES: To better define mechanisms influencing RDEB wound progression by evaluating changes in molecular and cellular networks.

METHODS: We developed a non-invasive approach for sampling and analysis of wound-associated constituents using wound-covering bandages. Cellular and molecular components from seventy-six samples collected from early, established and chronic RDEB wounds were evaluated by …

Cyclosporine Shows Benefit As Compared To Methotrexate For Treatment Of Pediatric Atopic Dermatitis Refractory To Topical Medications When Rapidity Of Clinical Response Is Of Key Importance To The Patient, Connor R. Buechler, Steven Daveluy Md

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising El-Khalawany MA, Hassan H, Shaaban D, Ghonaim N, Eassa B. Methotrexate versus cyclosporine in the treatment of severe atopic dermatitis in children: a multicenter experience from Egypt. European Journal of Pediatrics. 2012;172(3):351-356. https://doi.org10.1007/s00431-012-1893-3 for a pediatric patient with severe atopic dermatitis.

The Role Of Adhesives In Dermatologic Surgery: Tips, Tricks And Review, Adam Chahine, Stefanie Lynn Altmann, Mariam Salman, Karthik Krishnamurthy

Dermatology

Background: The utilization of tissue adhesives for wound closure has historically been well established in the emergency department setting. More recently, it has been adopted by dermatologists and other surgical specialties as an alternative or adjunct to more traditional bilayered wound closures.

Purpose: This serves as a comprehensive review of the available scientific literature on the utilization of tissue adhesives compared to traditional bilayered closures. We discuss benefits, drawbacks, as well as novel surgical techniques, as applicable to dermatologic surgery.

Methods: A literature review was performed using Pubmed and MEDLINE for relevant articles related to the use of adhesives and …

Metastatic Squamous Cell Carcinoma: A Cautionary Tale, Colby Shreve, Chase Shropshire, David G. Cotter

School of Medicine Faculty Publications

Cutaneous squamous cell carcinoma (cSCC) typically arises from a malignant proliferation of keratinocytes. It is the second most common cancer in the United States and typically affects older white men. Risk factors for cSCC include ultraviolet radiation exposure, light skin tone, and immunosuppression. Although metastasis in cSCC is rare, primary tumor characteristics such as location, size, and depth of invasion, among others, can help risk-stratify lesions for local recurrence, metastatic events, and death. We present a case of primary cutaneous metastatic squamous cell carcinoma masquerading as a cyst on the left temple of a 73-year-old Caucasian man following numerous treatments …

Consensus Reclassification Of Inherited Epidermolysis Bullosa And Other Disorders With Skin Fragility., C Has, J W Bauer, C Bodemer, M C Bolling, L Bruckner-Tuderman, A Diem, J-D Fine, A Heagerty, A Hovnanian, M P Marinkovich, A E Martinez, J A Mcgrath, C Moss, D F Murrell, F Palisson, A Schwieger-Briel, E Sprecher, K Tamai, J Uitto, D T Woodley, G Zambruno, J E Mellerio

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).

OBJECTIVES: We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data.

METHODS: This was a consensus expert review.

RESULTS: In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin …

A Hyperpigmented Plaque In A Female Patient, Harel G. Schwartzberg, Alexandra Bourgeois, Amber Souers, Jeremy Atkinson, Pamela Martin

School of Medicine Faculty Publications

No abstract provided.