Dermatology Commons^™

Keratinocyte-Targeted Expression Of Human Laminin Γ2 Rescues Skin Blistering And Early Lethality Of Laminin Γ2 Deficient Mice., Tracy L Adair-Kirk, Gail L Griffin, Michelle J Meyer, Diane G Kelley, Jeffrey H Miner, Douglas R Keene, M Peter Marinkovich, J Michael Ruppert, Jouni Uitto, Robert M Senior

Department of Dermatology and Cutaneous Biology Faculty Papers

Laminin-332 is a heterotrimeric basement membrane component comprised of the α3, ß3, and γ2 laminin chains. Laminin-332 modulates epithelial cell processes, such as adhesion, migration, and differentiation and is prominent in many embryonic and adult tissues. In skin, laminin-332 is secreted by keratinocytes and is a key component of hemidesmosomes connecting the keratinocytes to the underlying dermis. In mice, lack of expression of any of the three Laminin-332 chains result in impaired anchorage and detachment of the epidermis, similar to that seen in human junctional epidermolysis bullosa, and death occurs within a few days after birth. To bypass the early …

Livedoid Vasculopathy In The Setting Of Disseminated Intravascular Coagulation Diagnosed As Thrombotic Thrombocytopenic Purpura, Steven Oberlender Md, Phd, Anthony J. Gust Md, Christian W. Oram Do

Department of Medicine

No abstract provided.

Car Seat Dermatitis - A Case Report, Marie S. Lewars Do, Joshua M. Levin Md, Stephen Purcell Do

Department of Medicine

No abstract provided.

Abca12-Mediated Lipid Transport And Snap29-Dependent Trafficking Of Lamellar Granules Are Crucial For Epidermal Morphogenesis In A Zebrafish Model Of Ichthyosis., Qiaoli Li, Michael Frank, Masashi Akiyama, Shiu-Ying Ho, Hiroshi Shimizu, Christine Thisse, Bernard Thisse, Eli Sprecher, Jouni Uitto

Department of Dermatology and Cutaneous Biology Faculty Papers

Zebrafish (Danio rerio) can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5-6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM) of wild-type zebrafish at day 5 reveals a two-cell-layer epidermis separated from the underlying collagenous stroma by a basement membrane with fully developed hemidesmosomes. Scanning electron microscopy (SEM) reveals an ordered surface contour of keratinocytes with discrete microridges. To gain insight into epidermal morphogenesis, we have employed morpholino-mediated knockdown of the abca12 and snap29 genes, which are crucial for secretion of lipids and …

Wound Healing And The Role Of Biomarkers And Biofilms, Mujtaba Khan

All Capstone Projects

An injury to the skin alters the integrity of underlying tissues and microcirculation and thus certainly culminates in a wound. Wound healing is a highly complex, dynamic, interactive and well regulated physiological process involving blood cells, extracellular matrix, parenchyma cells and soluble mediators. It starts with alteration in integrity of tissues and ends with the formation of scar. The process of wound healing is distinguished into Haemostasis, Inflammation, Proliferation and Remodeling. Various cells like platelets, neutrophils, macrophages, lymphocytes, angiocytes, keratinocytes, fibroblasts and factors like platelet derived growth factor, transforming growth factor, platelet derived epidermal growth factors, fibroblasts growth factor, albumin, …

Cloudy And Starry Milia-Like Cysts: How Well Do They Distinguish Seborrheic Keratoses From Malignant Melanomas?, S. M. Stricklin, William V. Stoecker, M. C. Oliviero, H. S. Rabinovitz, S. K. Mahajan

Chemistry Faculty Research & Creative Works

Background Seborrheic keratoses are the most common skin lesions known to contain small white or yellow structures called milia-like cysts (MLCs). Varied appearances can sometimes make it difficult to differentiate benign lesions from malignant lesions such as melanoma, the deadliest form of skin cancer found in humans. Objective the purpose of this study was to determine the statistical occurrence of MLCs in benign vs. malignant lesions. Methods a medical student with 10 months experience in examining approximately 1000 dermoscopy images and a dermoscopy-naïve observer analyzed contact non-polarized dermoscopy images of 221 malignant melanomas and 175 seborrheic keratoses for presence of …

Mechanisms Of Resistance To Raf Inhibitors In Melanoma., A E Aplin, Fred M Kaplan, Yongping Shao

Department of Cancer Biology Faculty Papers

The recent RAF inhibitor trial with PLX4032/RG7204 in late-stage mutant B-RAF melanoma patients has been lauded as a success story for personalized cancer therapy since short-term clinical responses were observed in the majority of patients. However, initial responses were followed by subsequent tumor re-growth, and a subset of patients showed intrinsic resistance. Bi-directional translational efforts are now essential to determine the mechanisms underlying acquired/secondary and intrinsic resistance to RAF inhibitors.

Detection Of Filaggrin Gene Mutation (2282del4) In Pakistani Ichthyosis Vulgaris Families., Naghma Naz, Azam J. Samdani

Department of Medicine

The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.

Nonsurgical Treatment Options For Basal Cell Carcinoma, Mary H. Lien, Vernon K. Sondak

Dermatology & Cutaneous Surgery Faculty Publications

Basal cell carcinoma (BCC) remains the most common form of nonmelanoma skin cancer (NMSC) in Caucasians, with perhaps as many as 2 million new cases expected to occur in the United States in 2010. Many treatment options, including surgical interventions and nonsurgical alternatives, have been utilized to treat BCC. In this paper, two non-surgical options, imiquimod therapy and photodynamic therapy (PDT), will be discussed. Both modalities have demonstrated acceptable disease control rates, cosmetically superior outcomes, and short-term cost-effectiveness. Further studies evaluating long-term cure rates and long-term cost effectiveness of imiquimod therapy and PDT are needed.

Expedient Treatment Of A Collodion Baby, Michael Chung, Jaime Pittenger, Stuart Tobin, Andrew Chung, Nirmala Desai

Pediatrics Faculty Publications

Only ~270 cases of collodion babies have been reported in the literature since 1892. As the name suggests, the term "collodion baby" refers to a phenotype that can be characterized by a yellow, shiny, tight parchment-like membrane stretched over the skin. Although the collodion membrane is only an evanescent condition of the newborn, neonatal complications can occur in 45% of all collodion babies, leading to a mortality rate of ~11% in the first few weeks of life. Most children born as collodion babies will spontaneously desquamate within 2 weeks, but may be as long as 3 months. Eventually, these children …

Oral Fixed Drug Eruption Secondary To Isoniazid, Tanya Ermolovich Do, Tatyana Groysman Do

Department of Medicine

No abstract provided.

Dermoscopy: An Evidence-Based Approach For The Early Detection Of Melanoma, Angela Armstrong

UNF Graduate Theses and Dissertations

The purpose of this project was to evaluate the effectiveness of a practice-based dermoscopy training program for dermatology healthcare providers in order to improve their technique of performing clinical skin exams for the early detection of melanomas.

The overall incidence of melanoma continues to rise. More than 75% of all skin cancer deaths are from melanoma. Advanced melanoma spreads to lymph nodes and internal organs and can result in death. One American dies from melanoma almost every hour (American Cancer Society [ACS], 2009). Early diagnosis and excision are essential to reduce morbidity and to improve patient survival.

This one-group before-and-after …

Atypical Lymphocytic Lobular Panniculitis: A Distinct Eentity In The Spectrum Of Cutaneous Lymphoid Dyscrasia, Lusia S. Yi Do, Ms, Nicole Bright Do, Stephen Purcell Do

Department of Medicine

No abstract provided.

Plexiform Neurofibroma Associated With Nf1, Stephen M. Purcell Do, Tatyana Groysman Do

Department of Medicine

No abstract provided.

Progressive Symmetric Erythrokeratoderma, Sevasti Margetas Do, Stephen Purcell Do

Department of Medicine

No abstract provided.

Homozygous Frame Shift Mutation In Ecm1 Gene In Two Siblings With Lipoid Proteinosis., Azam J. Samdani, Abid Azhar, Syed M. Shahid, Syeda N. . Nawab, Rozeena Shaikh, Shah A. Qader, Qaisar Mansoor, Bahram K. Khoso, Muhammad Ismail

Department of Medicine

Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 250 cases of this disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is very rare. This study was designed to investigate the possible mutation causing lipoid proteinosis in a Pakistani family and to elaborate the scope of possible …

J. Graham Smith Jr, Md (November 22, 1926-May 18, 2010)., Lawrence Charles Parish

Department of Dermatology and Cutaneous Biology Faculty Papers

With the passing of J. Graham Smith, Jr. on May 18, 2010, following a short illness, dermatology lost one of its most distinguished envoys. (Figure 1) Skee*, as he was known by his many friends, held the important offices in American dermatology for which he made many significant contributions.

Differential Regulation Of P53 Function By The N-Terminal Δnp53 And Δ113p53 Isoforms In Zebrafish Embryos., William R Davidson, Csaba Kari, Qing Ren, Borbala Daroczi, Adam P Dicker, Ulrich Rodeck

Department of Radiation Oncology Faculty Papers

BACKGROUND: The p53 protein family coordinates stress responses of cells and organisms. Alternative promoter usage and/or splicing of p53 mRNA gives rise to at least nine mammalian p53 proteins with distinct N- and C-termini which are differentially expressed in normal and malignant cells. The human N-terminal p53 variants contain either the full-length (FL), or a truncated (ΔN/Δ40) or no transactivation domain (Δ133) altogether. The functional consequences of coexpression of the different p53 isoforms are poorly defined. Here we investigated functional aspects of the zebrafish ΔNp53 ortholog in the context of FLp53 and the zebrafish Δ133p53 ortholog (Δ113p53) coexpressed in the …

Using Photoactive Vitamin Nanoparticles As Photodynamic Antimicrobial Chemotherapeutic (Pact) Agents To Treat Chronic Wounds, Rahul A. Khanke

All Capstone Projects

The objective of the proposed study is to develop new materials and methods to manage microbial growth in chronic wounds using phototherapy. Chronic wounds are considered as a worldwide health problem. The most common chronic wounds can be classified into three categories: venous ulcers, diabetic ulcers, and pressure ulcers. Venous ulcers, which usually occur in the legs, account for about 70% to 90% of chronic wounds and can become infected easily. Venous ulcers are sores that develop after veins in the legs have been damaged. These ulcers can penetrate deeply into the skin. Occasionally, if a venous ulcer persists for …

Molecular Studies Of Ichthyosis Vulgaris In Pakistani Families., Azam J. Samdani, Naghma Naz, Nuzhat Ahmed

Department of Medicine

Objective: To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris.

Study Design: A case series.

Place and Duration of Study: Centre for Molecular Genetics, University of Karachi and Dermatology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from October 2007 to December 2008.

Methodology: Clinically examined seven ichthyosis vulgaris families were included in this study. The 1.5 kb FLG gene fragment was located in the genomic DNA of both the affected (patients) and unaffected (normal, controls) members of the families by PCR amplification using known primers FilF3 and RPTIP6.

Results: …

Granuloma Annulare: Not As Simple As It Seems., Lawrence Charles Parish, Joseph A. Witkowski

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Human Papillomavirus And Survival Of Patients With Oropharyngeal Cancer., K Kian Ang, Jonathan Harris, Richard Wheeler, Randal Weber, David I Rosenthal, Phuc Felix Nguyen-Tân, William H Westra, Christine H Chung, Richard C Jordan, Charles Lu, Harold Kim, Rita S. Axelrod, Md, C Craig Silverman, Kevin P Redmond, Maura L Gillison

Jefferson Hospital Staff Papers and Presentations

BACKGROUND: Oropharyngeal squamous-cell carcinomas caused by human papillomavirus (HPV) are associated with favorable survival, but the independent prognostic significance of tumor HPV status remains unknown.

METHODS: We performed a retrospective analysis of the association between tumor HPV status and survival among patients with stage III or IV oropharyngeal squamous-cell carcinoma who were enrolled in a randomized trial comparing accelerated-fractionation radiotherapy (with acceleration by means of concomitant boost radiotherapy) with standard-fractionation radiotherapy, each combined with cisplatin therapy, in patients with squamous-cell carcinoma of the head and neck. Proportional-hazards models were used to compare the risk of death among patients with HPV-positive …

Updating The Dermatologic Nomenclature: Names That Are Good Or Bad., Lawrence Charles Parish, Joseph A. Witkowski

Department of Dermatology and Cutaneous Biology Faculty Papers

Dermatology probably has the largest vocabulary of any of the medical specialties,¹ a statement to which we can attest when we reviewed aspects of the Dermatology Lexicon project. Some terms are derived from the Latin or Greek and present spelling problems to all but a select few. Examples include acrokeratosis verruciformis and pterigium. Other diseases carry names that are such a mouthful that few can call them out without the interruption of breathing. These might include erosio interdigitalis blastomycetica and dermatitis exudative discoid and lichenoid of Sulzberger and Garbe. No wonder the former is now referred to simply as …

Reducing The Effects Of Intracellular Accumulation Of Thermolabile Collagen Ii Mutants By Increasing Their Thermostability In Cell Culture Conditions., Katarzyna Gawron, Deborah A. Jensen, Andrzej Steplewski, Andrzej Fertala

Department of Dermatology and Cutaneous Biology Faculty Papers

Mutations in collagen II are associated with spondyloepiphyseal dysplasia, a group of heritable diseases whose common features include aberrations of skeletal growth. The mechanisms through which mutations in collagen II affect the cartilaginous tissues are complex and include both intracellular and extracellular processes. One of those mechanisms involves cellular stress caused by excessive accumulation of misfolded collagen II mutants. We investigated whether stabilizing the structure of thermolabile R789C and R992C collagen II mutants would improve their secretion from cells, thereby reducing cellular stress and apoptosis. Employing glycerol and trimethylamine N-oxide (TMAO), chemicals that increase the thermostability of collagen triple helices, …

Biomarkers In Systemic Sclerosis., Susan V. Castro, Sergio A. Jimenez

Scleroderma Center Faculty Papers

Systemic sclerosis is an autoimmune inflammatory disorder of unknown etiologycharacterized b y pronounced fibroproliferative alterations in the microvasculature, and frequent cellular and humoral immunity abnormalities, culminating in a severe and often progressive fibrotic process. Numerous biomarkers reflecting the three main pathogenetic mechanisms in systemic sclerosis have been described; however, aside from several disease-specific autoantibodies, other biomarkers have not been thoroughly validated and require further study. Thus, there is an unmet need for validated biomarkers for diagnosis, disease classification, and evaluation of organ involvement and therapeutic response in systemic sclerosis.

Apoptosis Initiation And Angiogenesis Inhibition: Melanoma Targets For Nanosecond Pulsed Electric Fields, Xinhua Chen, Juergen F. Kolb, R. James Swanson, Karl H. Schoenbach, Stephen J. Beebe

Bioelectrics Publications

Many effective anti-cancer strategies target apoptosis and angiogenesis mechanisms. Applications of non-ionizing, nanosecond pulsed electric fields (nsPEFs) induce apoptosis in vitro and eliminate cancer in vivo; however in vivo mechanisms require closer analysis. These studies investigate nsPEF-induced apoptosis and anti-angiogenesis examined by fluorescent microscopy, immunoblots, and morphology. Six hours after treatment with one hundred 300 ns pulses at 40 kV/cm, cells transiently expressed active caspases indicating that caspase-mediated mechanisms. Three hours after treatment transient peaks in Histone 2AX phosphorylation coincided with terminal deoxynucleotidyl transferase dUTP nick end labeling positive cells and pyknotic nuclei, suggesting caspase-independent mechanisms on nuclei/DNA. Large …

Superficial Dsg2 Expression Limits Epidermal Blister Formation Mediated By Pemphigus Foliaceus Antibodies And Exfoliative Toxins., D Brennan, Ying Hu, Walid Medhat, A Dowling, M G Mahoney

Department of Dermatology and Cutaneous Biology Faculty Papers

Cell-cell adhesion mediated by desmosomes is crucial for maintaining proper epidermal structure and function, as evidenced by several severe and potentially fatal skin disorders involving impairment of desmosomal proteins. Pemphigus foliaceus (PF) and staphylococcal scalded skin syndrome (SSSS) are subcorneal blistering diseases resulting from loss of function of the desmosomal cadherin, desmoglein 1 (Dsg1). To further study the pathomechanism of these diseases and to assess the adhesive properties of Dsg2, we employed a recently established transgenic (Tg) mouse model expressing Dsg2 in the superficial epidermis. Neonatal Tg and wild type (WT) mice were injected with purified ETA or PF Ig. …

The Most Important Medical Source: Aunt Mabel Knows Best., Lawrence Parish, Joseph A Witkowski

Department of Dermatology and Cutaneous Biology Faculty Papers

Not so long ago, one of us was consulted by a middle-aged woman with rosacea. For many years, she had had periodic flares of red papules and pustules on her nose and the adjoining areas. The confluent telangiectasia on her cheeks gave a permanent appearance of well-applied rouge. She had seen several dermatologists and had received a wide variety of medications, all of which seemed appropriate except to her as would be subsequently revealed. She wanted a new approach, but there were limitations placed upon her request: no pills or capsules; nothing odiferous; no agent that might bleach clothing; and …

Fluorescent Protein Markers To Tag Collagenous Proteins: The Paradigm Of Procollagen Vii, Hye J. Chung, Andrzej Steplewski, Jouni Uitto, Andrzej Fertala

Department of Dermatology and Cutaneous Biology Faculty Papers

Fluorescent proteins are powerful markers allowing tracking expression, intracellular localization, and translocation of tagged proteins but their effects on the structure and assembly of complex extracellular matrix proteins has not been investigated. Here, we analyzed the utility of fluorescent proteins as markers for procollagen VII, a triple-helical protein critical for the integrity of dermal-epidermal junction. DNA constructs encoding a red fluorescent protein-tagged wild type mini-procollagen VII α chain and green fluorescent protein-tagged α chains harboring selected mutations were genetically engineered. These DNA constructs were co-expressed in HEK-293 cells and the assembly of heterogeneous triple-helical mini-procollagen VII molecules was analyzed. Immunoprecipitation …

Pdest Fg12-Cmv Dsred Vector, Jarod Wolffis, Sheri L. Holmen

Undergraduate Research Opportunities Program (UROP)

Melanoma is the most rapidly increasing malignancy among young people in the United States. If detected early, the disease is easily treated; however, once the disease has metastasized it is largely refractory to conventional therapies and is associated with a high mortality rate. The development of human cancer from a pre-malignant primary tumor to a metastatic lesion that develops at secondary sites is thought to be a multi-step process, requiring many genetic and epigenetic events that provide a growth advantage to cells. It is still unclear which of the many genetic changes in human cancers are required for metastasis. Therefore, …