Acanthosis Nigricans 4 (Table) Benign Type 5 (Table) Acne Rosacea 40--3
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PGD: a Celebration of 20 Years
PGD: A Celebration of 20 years: What is Reality and What is Not? Roma June 30, 2010 Mark Hughes, M.D., Ph.D . Professor of Genetics, Internal Medicine, Pathology Director, Genesis Genetics Institute Director, State of Michigan Genomic Technology Center Reality – (Three obvious ones) PGD • Has led to the birth of thousands of healthy children to very desperate, genetically at-risk couples. • Remains at the very limit of medical diagnostic testing • The technology continues to improve - – but it is not reality to think PGD will ever have a 0% false positive or false negative rate Reality: We still do not know What is best to biopsy, and when? Polar Body Blastomere Trophoectoderm Variation in Biopsy Skill Clinic Biopsies +HCG / ET 1 314 17% 2 427 26% 3 181 12% 4 712 31% Reality: We all are controversial • PGD has raised international controversy – How is it bioethically different from Prenatal Testing? – Who should control the use of these technologies? – Should there be government PGD testing standards? • What is the difference between a Disease and a Trait - and who decides? PGD Disorders (A, B, C) • ACHONDROPLASIA (FGFR) • BARTH DILIATED CARDIOMYOPATHY • ACTIN-NEMALIN MYOPATHY (ACTA) • BETA THALASSEMIA (HBB) • ADRENOLEUKODYSTROPHY (ABCD) • BLOOM SYNDROME • AGAMMAGLOBULINEMIA-BRUTON (TYKNS) • BREAST CANCER (BRCA1 & 2) • ALAGILLE SYNDROME (JAG) • CACH-ATAXIA (EIFB) • ALDOLASE A, FRUCTOSE-BISPHOSPHATE • CADASIL (NOTCH) • ALPHA THALASSEMIA (HBA) • CANAVAN DISEASE (ASPA) • ALPHA-ANTITRYPSIN (AAT) • CARNITINE-ACYLCARN TRANSLOCASE • ALPORT SYNDROME -
Associated Palmoplantar Keratoderma
DR ABIGAIL ZIEMAN (Orcid ID : 0000-0001-8236-207X) Article type : Review Article Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: New insight into skin epithelial homeostasis and avenues for treatment Authors: A. G. Zieman1 and P. A. Coulombe1,2 # Affiliations: 1Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109, USA; 2Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI 48109, USA #Corresponding author: Pierre A. Coulombe, PhD, 3071 Biomedical Sciences Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109, USA. Tel: 734-615-7509. Email: [email protected]. Funding Sources: These studies were supported by grant AR044232 issued to P.A.C. from the National Institute of Arthritis, Musculoskeletal and Skin Disease (NIAMS). A.G.Z. received support from grant T32 CA009110 from the National Cancer Institute. Author Manuscript This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/BJD.18033 This article is protected by copyright. All rights reserved Conflict of interest disclosures: None declared. Bulleted statements: What’s already known about this topic? Pachyonychia congenita is a rare genodermatosis caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, KRT17, which are normally expressed in skin appendages and induced following injury. Individuals with PC present with multiple clinical symptoms that usually include thickened and dystrophic nails, palmoplantar keratoderma (PPK), glandular cysts, and oral leukokeratosis. -
Prevalence of Developmental Oral Mucosal Lesions Among a Sample of Denture Wearing Patients Attending College of Dentistry Clinics in Aljouf University
European Scientific Journal August 2016 edition vol.12, No.24 ISSN: 1857 – 7881 (Print) e - ISSN 1857- 7431 Prevalence Of Developmental Oral Mucosal Lesions Among A Sample Of Denture Wearing Patients Attending College Of Dentistry Clinics In Aljouf University Abdalwhab M.A .Zwiri Assistant professor of oral medicine, Aljouf University, Sakaka, Aljouf , Saudi Arabia Santosh Patil Assistant professor of Radiology, Aljouf University, Sakaka, Aljouf , Saudi Arabia Fadi AL- Omair Intern dentist, Aljouf University, Sakaka, Aljouf , Saudi Arabia Mohammed Assayed Mousa Lecturer of prosthodontics, Aljouf University, Sakaka, Aljouf , Saudi Arabia Ibrahim Ali Ahmad Department of Dentistry, AlWakra Hospital, Hamad Medical Corporation, AlWakra, Qatar doi: 10.19044/esj.2016.v12n24p352 URL:http://dx.doi.org/10.19044/esj.2016.v12n24p352 Abstract Introduction: developmental oral lesions represent a group of normal lesions that can be found at birth or evident in later life. These lesions include fissured and geographic tongue, Fordyce’s granules and leukoedema. Study aims: to investigate the prevalence of some developmental oral mucosal lesions among dental patients wearing dentures who were attending college of dentistry clinics in Aljouf University, and specialized dental center of ministry of health. Methods and subjects: a retrospective design was conducted to collect data from 344 wearing denture dental patients who were attending college of dentistry clinics in Aljouf University, and specialized dental center of ministry of health. A working excel sheet was created for patients and included data related to personal information such as age and gender; and oral developmental lesions. The software SPSS version 20 was used to analyze data. Statistical tests including frequency, percentages, and One way Anova were used to describe data. -
Update on Genital Dermatoses
UPDATE ON GENITAL DERMATOSES Sangeetha Sundaram Consultant GUM/HIV Southampton 07/11/2018 Normal variants • Fordyce spots • Vestibular papillae • Pearly penile papules • Angiokeratoma • Epidermal cysts • Skin tags Inflammatory dermatoses • Irritant dermatitis • Lichen sclerosus • Lichen simplex chronicus • Lichen planus • Seborrhoeic dermatitis • Psoriasis History • Itching? Where exactly? Waking up at night scratching? • Soreness/burning/raw? Where exactly? When? • Pain with sex? Where exactly? When exactly? • Discharge? • Skin trouble elsewhere? • Mouth ulcers? • Irritants in lifestyle Examination Irritants • Soap and shower gel (even Dove, Simple and Sanex…) • Sanitary pads and panty liners (especially when worn daily) • Moistened wipes • Synthetic underwear • Tight clothing • Feminine washes • Topical medication (creams and gels) • Urine, faeces, excessive vaginal discharge • Lubricants • Spermicides Basic vulval toolkit • Stop soap/shower gel (even Dove and Simple and Sanex!) • Stop pads/ panty liners (except during menses) • Loose cotton pants • Emollient soap substitute and barrier ointment Lichen simplex chronicus • Itching wakes her at night • Scratches in her sleep • Always same place(s) Lichen simplex chronicus - management • Stop soap/shower gel • Stop pads/ panty liners (except during menses) • Loose cotton pants • Emollient soap substitute and barrier ointment • Identify underlying condition(s), if any • Dermovate ointment every night for 2 weeks, then alternate nights for 2 weeks, then twice weekly for 2 weeks, then stop -
WES Gene Package Multiple Congenital Anomalie.Xlsx
Whole Exome Sequencing Gene package Multiple congenital anomalie, version 5, 1‐2‐2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired‐end sequenced on the Illumina platform (outsourced). The aim is to obtain 8.1 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA‐MEM algorithm (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A4GALT [Blood group, P1Pk system, P(2) phenotype], 111400 607922 101 100 100 99 [Blood group, P1Pk system, p phenotype], 111400 NOR polyagglutination syndrome, 111400 AAAS Achalasia‐addisonianism‐alacrimia syndrome, 231550 605378 73 100 100 100 AAGAB Keratoderma, palmoplantar, -
BIMJ April 2013
Original Article Brunei Int Med J. 2013; 9 (5): 290-301 Yellow lesions of the oral cavity: diagnostic appraisal and management strategies Faraz MOHAMMED 1, Arishiya THAPASUM 2, Shamaz MOHAMED 3, Halima SHAMAZ 4, Ramesh KUMARASAN 5 1 Department of Oral & Maxillofacial Pathology, Dr Syamala Reddy Dental College Hospital & Research Centre, Bangalore, India 2 Department of Oral Medicine & Radiology, Dr Syamala Reddy Dental College Hospital & Research Centre, Bangalore, India 3 Department of Community & Public Health Dentistry, Faculty of Dentistry, Amrita University, Cochin, India 4 Amrita center of Nanosciences, Amrita University, Cochin, India 5 Oral and Maxillofacial Surgery, Faculty of Dentistry, AIMST University, Kedah, Malaysia ABSTRACT Yellow lesions of the oral cavity constitute a rather common group of lesions that are encountered during routine clinical dental practice. The process of clinical diagnosis and treatment planning is of great concern to the patient as it determines the nature of future follow up care. There is a strong need for a rational and functional classification which will enable better understanding of the basic disease process, as well as in formulating a differential diagnosis. Clinical diagnostic skills and good judgment forms the key to successful management of yellow lesions of the oral cavity. Keywords: Yellow lesions, oral cavity, diagnosis, management INTRODUCTION INTRODUCTI Changes in colour have been traditionally low lesions have a varied prognostic spec- used to register and classify mucosal and soft trum. The yellowish colouration may be tissue pathology of the oral cavity. Thus, the- caused by lipofuscin (the pigment of fat). It se lesions have been categorised as white, may also be the result of other causes such red, white and red, blue and/or purple, as accumulation of pus, aggregation of lym- brown, grey and/or black and yellow. -
Fordyce's Granules Or Heterotopic/Ectopic Sebaceous Gland (Neville Et Al, 2009)
Republic of Iraq Ministry of Higher Education And scientific Research University of Baghdad College of Dentistry Fordyce’s granules A project submitted to the Council of the College of Dentistry at the University of Baghdad, Department of Oral Medicine, in partial fulfillment of the requirement for B.D.S. degree Done by: Zahraa Fakher Abd_Algany Supervisor RanaMurtadha Hassan )B.D.S., M.Sc( 2017-2018 List of content Subject Page NO. List of content I List of figures II List of table II Introduction 1 Aim of study 2 Chapter one: Review of literature 3 1.1 oral cavity 3 1.2 Definition 4 1.3 Epidemiology 4 1.4 etiology 5 1.5 Classification 5 1.6 clinical 6 1.7 Histology 8 1.8 Complications 10 1.9 Prognosis 10 1.10 Diagnosis and Treatment 11 1.10.1 Treatment of Fordyce Spots With CO2 Laser 11 1.10.2 bichloracetic acid 13 1.10.2.1 The Advantages of bichloracetic acid 13 treatment 1.10.2.2 Risk of bichloracetic acid treatment 14 1.10.3 5-aminolevulinic acid photodynamic therapy 15 1.10.3.1 Low cure rate in Fordyce spots by 5- 16 aminolevulinic acid photodynamic therapy is caused by Chapter two: Materials and methods 18 Chapter Three: RESULTS 19 3.1 Age 19 3.2 Gender 21 3.3 site 22 3.4 Geographic: 23 Chapter Four: Discussion 25 4.1 Age 25 4.2 site 25 4.3 Geographic 25 Chapter five :Conclusion 26 References 27 List of figure Fig. no. subject Page no. -
Indian Journal of Dermatology, Venereology & Leprology
ISSN 0378-6323 E-ISSN 0973-3930 Indian Journal of Dermatology, Venereology & Leprology VVolol 7744 | IIssuessue 1 | JJan-Feba n -F e b 22008008 The Indian Journal of Dermatology, Venereology and Leprology (IJDVL) EDITOR is a bimonthly publication of the Uday Khopkar Indian Association of Dermatologists, Venereologists and Leprologists (IADVL) ASSOCIATE EDITORS and is published for IADVL by Medknow Ameet Valia Sangeeta Amladi Publications. The Journal is indexed/listed with ASSISTANT EDITORS Science Citation Index Expanded, K. C. Nischal Sushil Pande Vishalakshi Viswanath PUBMED, EMBASE, Bioline International, CAB Abstracts, Global Health, DOAJ, Health and Wellness EDITORIAL BOARD Research Center, SCOPUS, Health Reference Center Academic, InfoTrac Chetan Oberai (Ex-ofÞ cio) Koushik Lahiri (Ex-ofÞ cio) Sanjeev Handa One File, Expanded Academic ASAP, Arun Inamdar Joseph Sundharam S. L. Wadhwa NIWI, INIST, Uncover, JADE (Journal Binod Khaitan Kanthraj GR Sharad Mutalik Article Database), IndMed, Indian D. A. Satish M. Ramam Shruthakirti Shenoi Science Abstract’s and PubList. D. M. Thappa Manas Chatterjee Susmit Haldar H. R. Jerajani Rajeev Sharma Venkatram Mysore All the rights are reserved. Apart from any Sandipan Dhar fair dealing for the purposes of research or private study, or criticism or review, no EDITORIAL ADVISORY BOARD part of the publication can be reproduced, Aditya Gupta, Canada Jag Bhawan, USA stored, or transmitted, in any form or by C. R. Srinivas, India John McGrath, UK any means, without the prior permission of Celia Moss, UK K. Pavithran, India the Editor, IJDVL. Giam Yoke Chin, Singapore R. G. Valia, India The information and opinions presented in Gurmohan Singh, India Robert A. -
Innovations and Transformations
International Pachyonychia Congenita Consortium (IPCC) Symposium Innovations and Transformations June 28-29, 2021 A virtual meeting 1 Sponsored by About Pachyonychia Congenita Project PC Project connects patients, researchers, medical professionals, and industry partners in a united and global effort to help those who suffer from the painful and debilitating effects of Pachyonychia Congenita (PC), a rare genetic skin disease. The International Pachyonychia Congenita Research Registry (IPCRR) gathers data from pa- tients through an online registry and provides free genetic testing to those who join. Patients in the registry are offered individualized support and are notified of studies for PC treatments, advances in research, and activities such as online forums and patient support meetings. Please refer your patients with severe PPKs to PC Project for a definitive diagnosis: https:// www.pachyonychia.org/patient-registry/ PC Project sponsors the International PC Consortium (IPCC) which facilitates collaboration among scientists, physicians, and other professionals interested in advancing research and translational therapeutics for PC. De-identified data from the registry is freely shared and available for research. PC Project invites all interested physicians, scientists and industry part- ners to join the IPCC, a special group, founded and fueled by love for these patients with se- vere unmet needs. Thank you for helping us achieve our vision: A day when those who suffer from PC will live without excruciating pain, isolation, and embarrassment. -
1 Introduction 1
1 Introduction 1 Part I The Mechanisms of Cutaneous Mosaicism 2 Mosaicism as a Biological Concept 5 2.1 Historical Beginnings 5 2.2 Mosaicism in Plants 6 2.3 Mosaicism in Animals 7 2.4 Mosaicism in Human Skin 9 2.5 Mosaicism Versus Chimerism 10 References 11 3 Two Major Categories of Mosaicism 13 3.1 Genomic Mosaicism 13 3.1.1 Genomic Mosaicism of Autosomes 13 3.1.2 Genomic X-Chromosome Mosaicism in Male Patients 24 3.1.3 Superimposed Segmental Manifestation of Polygenic Skin Disorders 24 3.2 Epigenetic Mosaicism 26 3.2.1 Epigenetic Mosaicism of Autosomal Genes 26 3.2.2 Epigenetic Mosaicism of X Chromosomes 27 References 31 4 Relationship Between Hypomorphic Alleles and Mosaicism of Lethal Mutations 39 References 41 Part II The Patterns of Cutaneous Mosaicism 5 Six Archetypical Patterns 45 5.1 Lines of Blaschko 45 5.1.1 Lines of Blaschko, Narrow Bands 52 5.1.2 Lines of Blaschko, Broad Bands 52 5.1.3 Analogy of Blaschko's Lines in Other Organs. ... 53 5.1.4 Blaschko's Lines in Animals 54 5.1.5 Analogy of Blaschko's Lines in the Murine Brain. 54 http://d-nb.info/1034513591 X 5.2 Checkerboard Pattern 56 5.3 Phylloid Pattern 57 5.4 Large Patches Without Midline Separation 57 5.5 Lateralization Pattern 57 5.6 Sash-Like Pattern 58 References 59 6 Less Well Defined or So Far Unclassifiable Patterns 63 6.1 The Pallister-Killian Pattern 63 6.2 The Mesotropic Facial Pattern 64 References 65 Part III Mosaic Skin Disorders 7 Nevi 69 7.1 The Theory of Lethal Genes Surviving by Mosaicism 70 7.2 Pigmentary Nevi 70 7.2.1 Melanocytic Nevi 70 7.2.2 Other Nevi Reflecting Pigmentary Mosaicism. -
Fordyce's Disease Treated with Pimacrolimus: a Rare Case Report
CASE REPORT Fordyce's Disease Treated with Pimacrolimus: A Rare Case Report *T Hoque1, AZMM Islam2 ABSTRACT Fordyce's disease, a rarely found disease of lips has been reported recently in department of Skin and VD, Gonosashthaya Somaj Vittic Medical College Hospital, Savar, Dhaka. Occasionally it may not be possible to identify the cause. The patient presented with identical features of Fordyce's disease and lip biopsy for histopathology showed the features of Fordyce's disease. Then patient was treated with Pimecrolimus cream and improved. Fordyce's disease is an extremely rare disorder. So its cutaneous findings, histopathology and treatments are highlighted here. Key Words: Fordyce's disease, histopathology, Pimacrolimus. Introduction Fordyce's disease is ectopically located sebaceous common cause behind the condition. The glands, over mucous membrane of the mouth and development of yellowish papules and their location lips1,14, characterized by the presence of whitish or may indicate actopic sebaceous glands due to yellowish, scanty or abundant, discrete, aggravated abnormal disposition during embroyonic and often coalescent milium like bodies.2 It occurs development.5 Sometimes warts are mistakenly commonly inside of the mouth laterally along the diagnosed as Fordyce's condition, because of line of the teeth as far back as the last molar and similarity in involvement of vermilion border in both possibly somewhat less frequently on the vermilion cases.6 In cases the Fordyce's condition affected or mucous and inner surface of the lips, cheeks, less genital area that need for biopsy or blood often glans penis, labia mejora and minora.1,15 The examination considering the similarity in appearance lesions are from 1mm to 3 mm in size and usually of with some of Sexually transmitted diseases. -
Hereditary Palmoplantar Keratoderma "Clinical and Genetic Differential Diagnosis"
doi: 10.1111/1346-8138.13219 Journal of Dermatology 2016; 43: 264–274 REVIEW ARTICLE Hereditary palmoplantar keratoderma “clinical and genetic differential diagnosis” Tomo SAKIYAMA, Akiharu KUBO Department of Dermatology, Keio University School of Medicine, Tokyo, Japan ABSTRACT Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkerato- sis of the palm and the sole skin. Hereditary PPK are divided into four groups – diffuse, focal, striate and punctate PPK – according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diag- nose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade. Key words: diffuse, focal, punctate, striate, transgrediens. INTRODUCTION psoriasis vulgaris confined to the palmoplantar area (Fig. 1b) are comparatively common and are sometimes difficult to Palmoplantar keratoderma (PPK) is a heritable or acquired dis- distinguish from hereditary PPK. A skin biopsy is essential in order characterized by abnormal hyperkeratotic thickening of diagnosing these cases. Lack of a family history is not neces- the palm and sole skin. In a narrow sense, PPK implies heredi- sarily evidence of an acquired PPK, because autosomal reces- tary PPK, the phenotype of which usually appears at an early sive PPK can appear sporadically from parent carriers and age.