Dermatology Commons^™

Epidermodysplasia Verruciformis: Inborn Errors Of Immunity To Human Beta-Papillomaviruses, Sarah J. De Jong, Elias Imahorn, Peter Itin, Jouni Uitto, Gerard Orth, Emmanuelle Jouanguy, Jean-Laurent Casanova, Bettina Burger

Department of Dermatology and Cutaneous Biology Faculty Papers

Epidermodysplasia verruciformis (EV) is an autosomal recessive skin disorder with a phenotype conditional on human beta-papillomavirus (beta-HPV) infection. Such infections are common and asymptomatic in the general population, but in individuals with EV, they lead to the development of plane wart-like and red or brownish papules or pityriasis versicolor-like skin lesions, from childhood onwards. Most patients develop non-melanoma skin cancer (NMSC), mostly on areas of UV-exposed skin, from the twenties or thirties onwards. At least half of the cases of typical EV are caused by biallelic loss-of-function mutations of TMC6/EVER1 or TMC8/EVER2. The cellular and molecular basis of disease in …

Lipoid Proteinosis: Unfamiliar Skin Findings Delay Diagnosis, S Larkin, Elizabeth K. Blixit

Articles

Lipoid proteinosis (LP) is a rare, inherited condition that progresses gradually with multisystemic manifestations. Histopathologic characteristics can be understated, delaying the diagnosis if a high degree of suspicion is not present.

Patient Acceptance Of Remote Scribing Powered By Google Glass In Outpatient Dermatology: Cross-Sectional Study, Sandra Odenheimer, Deepika Goyal, Veena Jones, Ruth Rosenblum, Lam Ho, Albert Chan

Faculty Publications

Background: The ubiquitous use of electronic health records (EHRs) during medical office visits using a computer monitor and keyboard can be distracting and can disrupt patient-health care provider (HCP) nonverbal eye contact cues, which are integral to effective communication. Provider use of a remote medical scribe with face-mounted technology (FMT), such as Google Glass, may preserve patient-HCP communication dynamics in health care settings by allowing providers to maintain direct eye contact with their patients while still having access to the patient’s relevant EHR information. The medical scribe is able to chart patient encounters in real-time working in an offsite location, …

The Genetic Basis Of Hyaline Fibromatosis Syndrome In Patients From A Consanguineous Background: A Case Series., Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have been associated with cases of HFS. Variable severity of the disorder in different patients has been proposed to be related to the specific mutations in these patients and their location within the gene.

CASE PRESENTATION: In this report, we describe four cases of HFS from consanguineous backgrounds. Genetic analysis identified a novel homozygous frameshift deletion c.969del …

Extragenital Blaschkoid Lichen Sclerosus Et Atrophicus In A Child, Christian A. Albornoz, Jordan Wang, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

Lichen sclerosus et atrophicus is a chronic inflammatory skin disease that typically affects prepubertal girls and peri- or post-menopausal women in genital and perineal areas. In some cases, it can also manifest as extragenital lesions. Extragenital Blaschkoid lesions have infrequently been reported. Here, we report a case of extragenital Blaschkoid lichen sclerosus et atrophicus in a child.

A Preexisting Rare Pik3ca E545k Subpopulation Confers Clinical Resistance To Mek Plus Cdk4/6 Inhibition In Nras Melanoma And Is Dependent On S6k1 Signaling, Gabriele Romano, Pei-Ling Chen, Ping Song, Jennifer L. Mcquade, Roger J. Liang, Mingguang Liu, Whijae Roh, Dzifa Y. Duose, Fernando C.L. Carapeto, Jun Li, Jessica L.F. Teh, Andrew A. Aplin, Merry Chen, Jianhua Zhang, Alexander J. Lazar, Michael A. Davies, P. Andrew Futreal, Rodabe N. Amaria, David Y. Zhang, Jennifer A. Wargo, Lawrence N. Kwong

Department of Cancer Biology Faculty Papers

Combined MEK and CDK4/6 inhibition (MEKi + CDK4i) has shown promising clinical outcomes in patients with NRAS- mutant melanoma. Here, we interrogated longitudinal biopsies from a patient who initially responded to MEKi + CDK4i therapy but subsequently developed resistance. Whole-exome sequencing and functional validation identified an acquired PIK3CA ^E545K mutation as conferring drug resistance. We demonstrate that PIK3CA ^E545K preexisted in a rare subpopulation that was missed by both clinical and research testing, but was revealed upon multiregion sampling due to PIK3CA ^E545K being nonuniformly distributed. This resistant population rapidly expanded after the initiation of MEKi + CDK4i therapy and …

Patient Perceptions Of Google Glass In The Outpatient Dermatology Setting, Sandra Odenheimer

Doctoral Projects

Background: The ubiquitous use of electronic health record (EHRs) during medical office visits using a computer monitor and keyboard can be distracting and disrupt patient-healthcare provider (HCP) non-verbal eye contact cues, which are integral to effective communication. Provider use of a remote medical scribe with face-mounted eyeglass technology, such as Google Glass (GG), may preserve patient-HCP communication in the healthcare setting by allowing providers to access other parts of the patient’s EHR (e.g. laboratory results, current medications, immunization records) all while maintaining direct eye contact with their patients. The medical scribe is able to chart patient encounters in real-time working …

Invasive Trichosporonosis Treated With Voriconazole, Vaibhav Garg, Elizabeth Jones, Ben J. Friedman, Jason B. Lee, Sherry Yang

Department of Dermatology and Cutaneous Biology Faculty Papers

Introduction

Trichosporon is a genus of yeast-like fungi. It is perhaps most widely known as the cause of white piedra, a benign superficial mycosis seen in immunocompetent individuals in tropical and subtropical regions. However, the incidence of invasive trichosporonosis has increased in immunocompromised patients, most notably those with hematologic malignancies. The following case illustrates characteristic features of trichosporonosis fungemia.

Herpes Zoster Patient Education: A Coloring Book Approach, Sophia Charuhas

Senior Honors Theses

Shingles, the disease caused by the herpes zoster virus, is a widespread and widely misunderstood illness in the United States. It is preventable, but many at-risk patients do not know what measures they may take to prevent it. Clear communication from physician to patient is crucial for patient understanding of diseases. Many patient education materials on herpes zoster currently available are often unused. It is therefore beneficial to public health to disseminate new mediums of medical communication, and one way of accomplishing this is through adult coloring books. The pathophysiology of herpes zoster virus is here explored and the idea …

Preclinical Comparison Of Proteasome And Ubiquitin E1 Enzyme Inhibitors In Cutaneous Squamous Cell Carcinoma: The Identification Of Mechanisms Of Differential Sensitivity, Angela Mchugh, Kenneth Fernandes, Andrew P. South, Jemima E. Mellerio, Julio C. Salas-Alanis, Charlotte M. Proby, Irene M. Leigh, Mark K. Saville

Department of Dermatology and Cutaneous Biology Faculty Papers

Proteasome inhibitors have distinct properties and the biochemical consequences of suppressing ubiquitin E1 enzymes and the proteasome differ. We compared the effects of the proteasome inhibitors bortezomib, ixazomib and carfilzomib and the ubiquitin E1 enzyme inhibitor MLN7243/TAK-243 on cell viability and cell death in normal keratinocytes and cutaneous squamous cell carcinoma (cSCC) cell lines. The effects of both a pulse of treatment and more extended incubation were investigated. This is relevant to directly-delivered therapy (topical treatment/intratumoral injection) where the time of exposure can be controlled and a short exposure may better reflect systemically-delivered inhibitor pharmacokinetics. These agents can selectively kill …

Optimizing Visiting Clerkships In Dermatology: A Dual Perspective Approach., Jordan V. Wang, Kathleen P. Mcguinn, Matthew Keller

Department of Dermatology and Cutaneous Biology Faculty Papers

Matching into a dermatology residency program has become increasingly more challenging for medical students. As students continue to explore various methods to help them standout to programs, recent medical literature has continued to show evidence of the important role that visiting clerkships play. Visiting clerkships offer several benefits to both students and programs. In order to optimize visiting clerkships, the perspectives of both students and programs are each examined with recommendations provided to help maximize its benefits.

Layout And Flow Of Dermatology Clinics: Principles From Operations Management., Jordan V. Wang

Department of Dermatology and Cutaneous Biology Faculty Papers

Dermatology is a medical specialty that experiences high patient demand and long patient wait times. Dermatology clinics should look for ways to improve efficiency through the incorporation of principles from operations management. Addressing the layout and flow of a clinic can lead to operational efficiency. An ideal layout may lead to increased patient volume, satisfaction, and retention.

Optimizing Vaccine Immunotherapy For Prostate Cancer, G. Hattier, E. K. Bongiorno, C. Portocarrero, Trevor R. Baybutt, Adam E. Snook, U. Rodeck

Sigma Xi Student Research Day

Introduction: Treatment options for metastatic prostate cancer are limited and cures are rare. In other cancers immunotherapy has shown remarkable efficacy in certain patient subsets particularly when combined with other treatment modalities. Our previous work showed that combining radiation and vaccine therapy slows the growth of syngeneic prostate cancer in mice more effectively than single modality treatment arms. Here we tested the hypothesis that addition of immune checkpoint inhibitors targeting the PD1/PD-L1 axis further improves efficacy of the dual radiation/vaccine treatment.

Methods: Mice were injected with tumor cells expressing human prostate specific antigen (TPSA-23). The mice were divided into six …

Androgenic Alopecia; The Risk–Benefit Ratio Of Finasteride, David L. Rowland, Ion G. Motofei, Ioana Păunică, Petrișor Banu, Mihaela F. Nistor, Stana Păunică, Vlad D. Constantin

Journal of Mind and Medical Sciences

Finasteride is currently approved and largely used as a therapeutic option for androgenetic alopecia. Apparently a safe drug and effective at the onset of its application, several concerns have since appeared over the years regarding the frequency and magnitude of finasteride adverse effects, which in some cases appear irreversible even after drug termination.

This paper discusses the use of finasteride for androgenic alopecia from two distinct perspectives. On the one hand, androgenic alopecia is a condition that especially affects a person’s self-image and esteem, aspects that are subjectively-constructed and thus relative and changeable. On the other hand, this condition involves …

P16-Ki67-Hmb45 Immunohistochemical Profiling May Help Discriminate Between Spitzoid Melanoma And Atypical Spitz Nevi, Robert E. Garola, Vivekanand Singh

Posters

Background

When Spitz nevi have increased vertical thickness (>1.5 MM), show ulceration and deep seated mitosis, the differential diagnostic considerations of atypical Spitz nevus (ASN) or a Spitzoid melanoma (SM) enter into consideration. While expert consultation from a dermatopathologist is most often sought to resolve the differential diagnosis, it could be expensive and time consuming. Recently, the use of molecular genetic testing has also been advocated in the work group up of atypical melanocytic proliferations. On the contrary, immunohistochemistry is a more routinely used technique in most pathology centers may be more simple to apply. A single immunohistochemical marker …

Gel Manicures And Ultraviolet A Light: A Call For Patient Education., Jordan V. Wang, Dorota Z. Korta, Christopher B. Zachary

Department of Dermatology and Cutaneous Biology Faculty Papers

Gel manicures have become a popular beauty trend in recent years. The specially formulated nail polish must undergo curing under light-based units. The majority of these curing lamps emit high-intensity ultraviolet A, which can cause skin damage and increase the risk for skin cancers. Incorporating relevant information in patient education endeavors can help them practice avoidance, apply broad-spectrum sunscreen prior, or use nitrile exam gloves in order to prevent photoaging and skin cancer resulting from these procedures.

Randomized Phase Ii Trial Of Autologous Dendritic Cell Vaccines Versus Autologous Tumor Cell Vaccines In Metastatic Melanoma: 5-Year Follow Up And Additional Analyses., Robert O. Dillman, Andrew N Cornforth, Gabriel I Nistor, Edward F Mcclay, Thomas T Amatruda, Carol Depriest

Articles, Abstracts, and Reports

BACKGROUND: Despite improved survival following checkpoint inhibitors, there is still a potential role for anti-cancer therapeutic vaccines. Because of biological heterogeneity and neoantigens resulting from each patient's mutanome, autologous tumor may be the best source of tumor-associated antigens (TAA) for vaccines. Ex vivo loading of autologous dendritic cells with TAA may be associated with superior clinical outcome compared to injecting irradiated autologous tumor cells. We conducted a randomized phase II trial to compare autologous tumor cell vaccines (TCV) and autologous dendritic cell vaccines (DCV) loaded with autologous TAA.

METHODS: Short-term autologous tumor cell lines were established from metastatic tumor. Vaccines …

Neonatal Purpura Fulminans, A Rare Genetic Disorder Due To Protein C Deficiency: A Case Report., Ghazala Irfan Kazi, Emaduddin Siddiqui, Saadia Tabassum, Badar Afzal, Irum Qamar Khan

Department of Emergency Medicine

Neonatal Purpura Fulminans is a rare and fatal disorder associated with perivascular haemorrhage and disseminated intravascular coagulation. Early clinical recognition, timely investigation and treatment is utmost important. A 6 days old baby boy was brought to emergency with blackish ulcers all over the body. Initially these were over the feet and scalp but later appeared on the abdomen. On examination, child was vitally stable, mildly icteric and had multiple erythematous large bullous blackish lesions on scalp, lower abdomen, perineum, back and soles. Neonatal reflexes and systemic examination was normal. Laboratory investigations showed normal CBC, PT/APTT and Protein S level while …

The Development Of The Genital Psoriasis Sexual Frequency Questionnaire (Genps-Sfq) To Assess The Impact Of Genital Psoriasis On Sexual Health, Alice B. Gottlieb, Brian Kirby, Caitriona Ryan, April N. Naegeli, Russel Burge, Alison Potts Bleakman, Jennifer Cather

NYMC Faculty Publications

INTRODUCTION: Patient-reported outcome measures (PROs) exist for psoriasis but not genital psoriasis (GenPs). METHODS: This cross-sectional, qualitative study in patients with moderate-to-severe GenPs was conducted to support development of a PRO for measuring the impact of GenPs on sexual activity and to establish content validity. The impacts of GenPs were identified in a literature review. Findings from the literature review were discussed with clinicians, and then patients with GenPs were interviewed. RESULTS: From the literature review, 52 articles, 44 abstracts, and 41 clinical trials met predefined search criteria. Of these, 11 concepts emerged as having theoretical support for use as …

Prevalence And Correlates Of Indoor Tanning And Sunless Tanning Product Use Among Female Teens In The United States, Megan Quinn, Arsham Alamian, Joel J. Hillhouse, Colleen Scott, Rob Turrisi, Katie Baker

Arsham Alamian

Background

Indoor tanning (IT) before the age of 35 increases melanoma risk by 75%. Nevertheless, IT and sunless tanning product (STP) use have gained popularity among youth. However, there are limited data on the prevalence and sociodemographic correlates of both IT and STP use in a representative sample of American teens.

Methods

Teenage females (N = 778) aged 12–18 years were recruited as part of an on-going longitudinal study conducted between May 2011 and May 2013. Descriptive statistics explored IT and STP usage in teen females at baseline. Logistic regression was used to determine sociodemographic correlates of IT and STP …