Dermatology Commons^™

Development Of The Biohybrid Assay: Combining Primary Human Vascular Smooth Muscle Cells And Blood To Measure Vascular Calcification Propensity, Armand M G Jaminon, Asim C Akbulut, Niko Rapp, Rafael Kramann, Erik A L Biessen, Lieve Temmerman, Barend Mees, Vincent Brandenburg, Robert Dzhanaev, Willi Jahnen-Dechent, Juergen Floege, Jouni Uitto, Chris P Reutelingsperger, Leon J Schurgers

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Vascular calcification is an active process that increases cardiovascular disease (CVD) risk. There is still no consensus on an appropriate biomarker for vascular calcification. We reasoned that the biomarker for vascular calcification is the collection of all blood components that can be sensed and integrated into a calcification response by human vascular smooth muscle cells (hVSMCs).

METHODS: We developed a new cell-based high-content assay, the BioHybrid assay, to measure in vitro calcification. The BioHybrid assay was compared with the o-Cresolphthalein assay and the T50 assay. Serum and plasma were derived from different cohort studies including chronic kidney disease (CKD) …

Severe Acute Generalized Exanthematous Pustulosis With Toxic Epidermal Necrolysis-Like Desquamation: A Case Series Of 8 Patients, Simo Huang, Amara Ahmed, Sylvia Hsu, Jason B. Lee, Kiran Motaparthi

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Mutagenic Analysis Of The Putative Abcc6 Substrate-Binding Cavity Using A New Homology Model, Flóra Szeri, Valentina Corradi, Fatemeh Niaziorimi, Sylvia Donnelly, Gwenaëlle Conseil, Susan P C Cole, D Peter Tieleman, Koen Van De Wetering

Department of Dermatology and Cutaneous Biology Faculty Papers

Inactivating mutations in ABCC6 underlie the rare hereditary mineralization disorder pseudoxanthoma elasticum. ABCC6 is an ATP-binding cassette (ABC) integral membrane protein that mediates the release of ATP from hepatocytes into the bloodstream. The released ATP is extracellularly converted into pyrophosphate, a key mineralization inhibitor. Although ABCC6 is firmly linked to cellular ATP release, the molecular details of ABCC6-mediated ATP release remain elusive. Most of the currently available data support the hypothesis that ABCC6 is an ATP-dependent ATP efflux pump, an un-precedented function for an ABC transporter. This hypothesis implies the presence of an ATP-binding site in the substrate-binding cavity of …

Impaired Wound Healing, Fibrosis, And Cancer: The Paradigm Of Recessive Dystrophic Epidermolysis Bullosa, Grace Tartaglia, Qingqing Cao, Zachary Padron, Andrew P. South

Department of Dermatology and Cutaneous Biology Faculty Papers

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a devastating skin blistering disease caused by mutations in the gene encoding type VII collagen (C7), leading to epidermal fragility, trauma-induced blistering, and long term, hard-to-heal wounds. Fibrosis develops rapidly in RDEB skin and contributes to both chronic wounds, which emerge after cycles of repetitive wound and scar formation, and squamous cell carcinoma—the single biggest cause of death in this patient group. The molecular pathways disrupted in a broad spectrum of fibrotic disease are also disrupted in RDEB, and squamous cell carcinomas arising in RDEB are thus far molecularly indistinct from other sub-types of …

Elevated Apobec Mutational Signatures Implicate Chronic Injury In Etiology Of An Aggressive Head-And-Neck Squamous Cell Carcinoma: A Case Report., Jena Patel, Nicoline Y. Den Breems, Madalina Tuluc, Jennifer Johnson, Joseph M. Curry, Andrew P. South, Raymond J. Cho

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

BACKGROUND: Aggressive squamous cell carcinomas (SCCs) present frequently in the context of chronic skin injury occurring in patients with the congenital blistering disease recessive dystrophic epidermolysis bullosa. Recently, these cancers were shown to harbor mutation signatures associated with endogenous deaminases of the active polynucleotide cytosine deaminase family, collectively termed APOBEC, and clock-like COSMIC [Catalogue of Somatic Mutations in Cancer] signatures, which are associated with normal aging and might result from cumulative DNA replication errors. We present a case of a nasal septal SCC arising in the context of recurrent injury, but also modest past tobacco use. Our genetic analysis of …

A Diverse Nation Calls For A Diverse Healthcare Force., Autumn L Saizan, Annyella Douglas, Nada Elbuluk, Susan Taylor

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Skin Manifestations In Covid-19 Patients: Are They Indicators For Disease Severity? A Systematic Review, Parnian Jamshidi, Bahareh Hajikhani, Mehdi Mirsaeidi, Hassan Vahidnezhad, Masoud Dadashi, Mohammad Javad Nasiri

Department of Dermatology and Cutaneous Biology Faculty Papers

Introduction: Until now, there are several reports on cutaneous manifestations in COVID-19 patients. However, the link between skin manifestations and the severity of the disease remains debatable. We conducted a systematic review to evaluate the temporal relationship between different types of skin lesions and the severity of COVID-19. Methods: A systematic search was conducted for relevant studies published between January and July 2020 using Pubmed/Medline, Embase, and Web of knowledge. The following keywords were used: "SARS-CoV-2" or "COVID-19" or "new coronavirus" or "Wuhan Coronavirus" or "coronavirus disease 2019" and "skin disease" or "skin manifestation" or "cutaneous manifestation." Results: Out of …

Establishing The Relationship Between Mendelian Nafld And Skin Pathology, Anthony Medvedev, Hassan Vahidnezhad, Phd, Leila Youssefian, Phd, Jouni Uitto, Md, Phd

Phase 1

Introduction:

It is estimated that 25% of the world’s population has some form of Nonalcoholic Fatty Liver Disease (NAFLD), a pathology associated with the development of cirrhosis, varices, and hepatocellular carcinoma. The discovery of a biallelic mutation in ABHD5 established the link between NAFLD and Chanarin-Dorfman syndrome. Consequently, it was hypothesized that additional NAFLD-inducing mutations could be associated with dermatologic manifestations.

Methods:

International NAFLD patients from consanguineous families underwent whole exome sequencing. These results were then filtered by frequency and pathogenicity prediction algorithms (e.g. Mutation Taster, Polyphen, CADD) to yield novel mutations. Concurrently, a literature review via PubMed identified …

Use Of Active Comparator Tirals In Dermatology: A Repeated Cross-Sectional Analysis, John Miller, John Barbieri, Md, Arash Mostaghimi, Md, Sophia Ly

Phase 1

Introduction: Spending on medications is expected to grow to $420 billion in 2023, largely driven by introduction of new branded products. While new branded medications can transform how physicians care for patients, others may not offer meaningful benefit over existing less costly alternatives. As additional new products are approved, the need to include active comparators in dermatologic clinical trials is particularly important to guide clinical decision making.

Methods: To evaluate the trends in the use of active comparator trials designs, topical medications approved between January 2002 and December 2020 were identified through the 2020 Food and Drug Administration (FDA) …

The Impact Of Patient Characteristics On Quality Of Life In Keloid Patients, Jonathan Wang, Romsin Zaya, Rachel Zachian, Mary Metkus, Neda Nikbakht

Phase 1

Introduction: Quality of life (QoL) is an important metric in assessing dermatological diseases such as keloids. This study evaluated the effects of patient characteristics on QoL in keloid patients.

Methods: This was a cross-sectional study. 36 patients presenting to the keloid clinic at TJUH were surveyed. QoL subscale scores for emotion, symptom, and function were calculated in addition to a total score for each patient using a keloid-specific questionnaire. The association between the QoL scores and patient characteristics of sex, ethnicity, as well as keloid location, duration, visibility, size, number, pain score, and pruritis score were evaluated using t-tests. …

The Prevalence Of Orally Administered Glucocorticoids, Generalized Pustular Psoriasis And Erythrodermic Psoriasis In The Treatment Of Adult Plaque Psoriasis Provided By U.S. Dermatologists, Katherine Awh, Kumar Nasham, Christian Albornoz, Steven Feldman, Anthony Albornoz

Phase 1

Introduction: Orally administered glucocorticoids (OAG) are not recommended for the management of plaque psoriasis (PsO) due to the classically feared outcomes of generalized pustular psoriasis (GPP) and erythrodermic psoriasis (EP). Given their widespread anecdotal use, we hypothesize that the use of OAG is not infrequent among US dermatologists and is rarely complicated by GPP or EP.

Methods: Anonymous electronic survey of 50 US dermatologists. Primary outcomes of interest were the prevalence of OAG in the management of PsO and the prevalence of GPP and EP in the context of OAG tapering.

Results: Overall, 9 out of 50 (18%) respondents …

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 …

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 …

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 …

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.

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.

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 …

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 …

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 …

Ier5, A Dna Damage Response Gene, Is Required For Notch-Mediated Induction Of Squamous Cell Differentiation, Li Pan, Madeleine E Lemieux, Tom Thomas, Julia M Rogers, Colin H Lipper, Winston Lee, Carl Johnson, Lynette M Sholl, Andrew P. South, Jarrod A Marto, Guillaume O Adelmant, Stephen C Blacklow, Jon C Aster

Department of Dermatology and Cutaneous Biology Faculty Papers

Notch signaling regulates squamous cell proliferation and differentiation and is frequently disrupted in squamous cell carcinomas, in which Notch is tumor suppressive. Here, we show that conditional activation of Notch in squamous cells activates a context-specific gene expression program through lineage-specific regulatory elements. Among direct Notch target genes are multiple DNA damage response genes, including IER5, which we show is required for Notch-induced differentiation of squamous carcinoma cells and TERT-immortalized keratinocytes. IER5 is epistatic to PPP2R2A, a gene that encodes the PP2A B55α subunit, which we show interacts with IER5 in cells and in purified systems. Thus, Notch and DNA-damage …

Cells From Discarded Dressings Differentiate Chronic From Acute Wounds In Patients With Epidermolysis Bullosa, Ignacia Fuentes, Christina Guttmann-Gruber, Birgit Tockner, Anja Diem, Alfred Klausegger, Glenda Cofré-Araneda, Olga Figuera, Yessia Hidalgo, Pilar Morandé, Francis Palisson, Boris Rebolledo-Jaramillo, María Joao Yubero, Raymond J Cho, Heather I Rishel, M Peter Marinkovich, Joyce M C Teng, Timothy G. Webster, Marco Prisco, Luis H. Eraso, Josefina Piñon Hofbauer, Andrew P. South

Department of Dermatology and Cutaneous Biology Faculty Papers

Impaired wound healing complicates a wide range of diseases and represents a major cost to healthcare systems. Here we describe the use of discarded wound dressings as a novel, cost effective, accessible, and non-invasive method of isolating viable human cells present at the site of skin wounds. By analyzing 133 discarded wound dressings from 51 patients with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers of cells, often in excess of 100 million per day, continually infiltrate wound dressings. We show, that the method is able to differentiate chronic from acute wounds, identifying significant increases in …

Splicing Of The Cake Can Affect The Severity Of Epidermolysis Bullosa, D Murrell, Jouni Uitto

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Dermatology Journals And The Impact Factor, Lawrence Charles Parish, W Clark Lambert

Department of Dermatology and Cutaneous Biology Faculty Papers

The noted informatics authority, Eugene Garfield (1925-2017), while working at the Johns Hopkins Medical Library, decided to assist medical librarians in selecting the publications to which they should subscribe. Not only at issue was the expense of subscribing and binding the periodicals, but there was also the physical space for shelving them. This was the birth of the Science Citation Index (SCI), the Impact Factor (IF), and the Institute for Scientific Information (ISI)in Philidelphia.

The role of the SCI has expanded over the years. Libraries may still continue to select journals on the basis of their IF, with many institutions …

Wax Models In Dermatology: Updated Through 2019, Lawrence Parish

Department of Dermatology and Cutaneous Biology Faculty Papers

Wax models have occupied an unique position in the teaching of dermatology. While watercolor depictions of skin lesions and later photographic illustrations have been used, the wax model offers an unique presentation of the morphology, often not captured by other methods .

The Membrane Protein Ankh Is Crucial For Bone Mechanical Performance By Mediating Cellular Export Of Citrate And Atp, Flóra Szeri, Stefan Lundkvist, Sylvia Donnelly, Udo F H Engelke, Kyu Rhee, Charlene J Williams, John P Sundberg, Ron A Wevers, Ryan Tomlinson, Robert S Jansen, Koen Van De Wetering

Department of Dermatology and Cutaneous Biology Faculty Papers

The membrane protein ANKH was known to prevent pathological mineralization of joints and was thought to export pyrophosphate (PPi) from cells. This did not explain, however, the presence of ANKH in tissues, such as brain, blood vessels and muscle. We now report that in cultured cells ANKH exports ATP, rather than PPi, and, unexpectedly, also citrate as a prominent metabolite. The extracellular ATP is rapidly converted into PPi, explaining the role of ANKH in preventing ankylosis. Mice lacking functional Ank (Ankank/ank mice) had plasma citrate concentrations that were 65% lower than those detected in wild type control animals. Consequently, citrate …

Characteristics Of Nontuberculous Mycobacterial Infections At A Midwestern Tertiary Hospital: A Retrospective Study Of 365 Patients., Claire E Hannah, Bradley A Ford, Jina Chung, Dilek Ince, Karolyn A Wanat

Department of Dermatology and Cutaneous Biology Faculty Papers

Background: The prevalence of infections due to nontuberculous mycobacteria (NTM) is increasing worldwide, yet little is known about the epidemiology and pathophysiology of these ubiquitous environmental organisms. Pulmonary disease due to Mycobacterium avium complex is most prevalent, but many other NTM species can cause disease in virtually any organ system. As NTM becomes an increasingly common cause of morbidity and mortality, more information is needed about the epidemiology of NTM disease.

Methods: We conducted a retrospective chart review of all patients with cultures that grew NTM at a Midwestern tertiary hospital from 1996 to 2017. Information on demographics, medical history, …

Dermatologists In The Wild West, 1870-1900: The Early Pioneers From The Mississippi River To The Pacific Coast., Leonard J Hoenig, Lawrence Charles Parish

Department of Dermatology and Cutaneous Biology Faculty Papers

During the Wild West era of American history (approximately 1870-1900), at least 53 dermatologists settled between the Mississippi River and the Pacific Coast. In 1870, two dermatologists began their practice in the city of St Louis, Missouri (William Augustus Hardaway and Solomon Claiborne Martin, Sr) and one dermatologist started his practice in San Francisco, California (George J. Bucknall). By 1900, 50 more dermatologists had settled in 19 cities located in the American West (Tables 1,2). There, they established practices, initiated academic programs, and pioneered dermatology as a medical specialty in the western United States. This contribution provides brief biographic profiles …

Molecular Genetics Of Keratinization Disorders - What's New About Ichthyosis, Jouni Uitto, Leila Youssefian, Amir Hossein Saeidian, Hassan Vahidnezhad

Department of Dermatology and Cutaneous Biology Faculty Papers

The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manifestations. The inheritance in different families can be autosomal dominant, autosomal recessive or either X-linked dominant or recessive. Currently at least 67 distinct genes have been associated with different forms of ichthyosis. These genes can be grouped on the basis of their physiological involvement, including genes encoding …