1 Introduction 1
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
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. -
Review Cutaneous Patterns Are Often the Only Clue to a a R T I C L E Complex Underlying Vascular Pathology
pp11 - 46 ABstract Review Cutaneous patterns are often the only clue to a A R T I C L E complex underlying vascular pathology. Reticulate pattern is probably one of the most important DERMATOLOGICAL dermatological signs of venous or arterial pathology involving the cutaneous microvasculature and its MANIFESTATIONS OF VENOUS presence may be the only sign of an important underlying pathology. Vascular malformations such DISEASE. PART II: Reticulate as cutis marmorata congenita telangiectasia, benign forms of livedo reticularis, and sinister conditions eruptions such as Sneddon’s syndrome can all present with a reticulate eruption. The literature dealing with this KUROSH PARSI MBBS, MSc (Med), FACP, FACD subject is confusing and full of inaccuracies. Terms Departments of Dermatology, St. Vincent’s Hospital & such as livedo reticularis, livedo racemosa, cutis Sydney Children’s Hospital, Sydney, Australia marmorata and retiform purpura have all been used to describe the same or entirely different conditions. To our knowledge, there are no published systematic reviews of reticulate eruptions in the medical Introduction literature. he reticulate pattern is probably one of the most This article is the second in a series of papers important dermatological signs that signifies the describing the dermatological manifestations of involvement of the underlying vascular networks venous disease. Given the wide scope of phlebology T and its overlap with many other specialties, this review and the cutaneous vasculature. It is seen in benign forms was divided into multiple instalments. We dedicated of livedo reticularis and in more sinister conditions such this instalment to demystifying the reticulate as Sneddon’s syndrome. There is considerable confusion pattern. -
Lesions Resembling Malignant Atrophic Papulosis in a Patient with Progressive Systemic Sclerosis
Lesions Resembling Malignant Atrophic Papulosis in a Patient With Progressive Systemic Sclerosis Clive M. Liu, MD; Ronald M. Harris, MD, MBA; C. David Hansen, MD Malignant atrophic papulosis (MAP), or Degos bleeding, and neurologic deficits. The prognosis is syndrome, is a rare disorder of unknown etiology. usually poor. Histologic characteristics include a It is characterized by a deep subcutaneous vas- vasculopathy below the necrobiotic zone with culopathy resulting in atrophic, porcelain-white endothelial swelling, proliferation, and thrombosis. papules. We report the case of a 42-year-old To our knowledge, only a few cases of MAP associ- woman with a history of progressive systemic ated with connective tissue disease have been sclerosis who presented with painful subcuta- reported: 4 cases with systemic lupus erythematosus, neous nodules on her abdomen along with 1 with dermatomyositis, and 1 with progressive sys- chronic atrophic papules on her upper and lower temic sclerosis.2-5 We present the case report of a limbs. Biopsy results of both types of lesions woman with progressive systemic sclerosis and revealed vascular thrombi without surrounding MAP-like lesions. inflammation. We briefly review the literature on MAP and its association with various connective Case Report tissue diseases. To our knowledge, there have Round erosions with dry central crusts developed on been no previous reports of a patient with the a 42-year-old woman with a long history of progres- clinical and histologic presentations described sive systemic sclerosis, significant pulmonary hyper- here. Although the histologic appearance of the tension, and right heart failure. Although the subcutaneous nodules was very similar to that of lesions were scattered on all limbs, the most promi- the atrophic papules, the clinical characteristics nent lesions extended from the right labium majus of the 2 types of lesions were strikingly different. -
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, -
Degos-Like Lesions Associated with Systemic Lupus Erythematosus
Degos-Like Lesions Associated with SLE pISSN 1013-9087ㆍeISSN 2005-3894 Ann Dermatol Vol. 29, No. 2, 2017 https://doi.org/10.5021/ad.2017.29.2.215 CASE REPORT Degos-Like Lesions Associated with Systemic Lupus Erythematosus Min Soo Jang, Jong Bin Park, Myeong Hyeon Yang, Ji Yun Jang, Joon Hee Kim, Kang Hoon Lee, Geun Tae Kim1, Hyun Hwangbo, Kee Suck Suh Departments of Dermatology and 1Internal Medicine, Kosin University College of Medicine, Busan, Korea Degos disease, also referred to as malignant atrophic pap- 29(2) 215∼218, 2017) ulosis, was first described in 1941 by Köhlmeier and was in- dependently described by Degos in 1942. Degos disease is -Keywords- characterized by diffuse, papular skin eruptions with porce- Degos disease, Degos-like lesions, Systemic lupus eryth- lain-white centers and slightly raised erythematous te- ematosus langiectatic rims associated with bowel infarction. Although the etiology of Degos disease is unknown, autoimmune dis- eases, coagulation disorders, and vasculitis have all been INTRODUCTION considered as underlying pathogenic mechanisms. Approx- imately 15% of Degos disease have a benign course limited Degos disease is a rare systemic vaso-occlusive disorder. to the skin and no history of gastrointestinal or central nerv- Degos-like lesions associated with systemic lupus eryth- ous system (CNS) involvement. A 29-year-old female with ematosus (SLE) are a type of vasculopathy. Almost all history of systemic lupus erythematosus (SLE) presented with Degos-like lesions have the clinical pathognomonic ap- a 2-year history of asymptomatic lesions on the dorsum of all pearance of porcelain-white, atrophic papules with pe- fingers and both knees. -
Degos Disease Associated with Behçet's Disease
Letter to the Editor http://dx.doi.org/10.5021/ad.2015.27.2.235 Degos Disease Associated with Behçet’s Disease Young Jee Kim, Sook Jung Yun, Seung-Chul Lee, Jee-Bum Lee Department of Dermatology, Chonnam National University Medical School, Gwangju, Korea Dear Editor: found as an apparent idiopathic disease or as a surrogate Degos disease (DD) is a rare, thrombo-occlusive vasculop- clinical finding in some connective tissue diseases. Here, athy that primarily affect the skin, gastrointestinal tract, we report a patient with cutaneous manifestation of DD, and central nervous system1. The cutaneous lesions pres- associated with mucocutaneous and systemic BD lesions. ent as characteristic papules with porcelain-white central A 45-year-old woman had asymptomatic erythematous atrophy and an erythematous raised border. Behçet’s dis- papules with central, porcelain-white colored umbilication ease (BD) is a systemic vasculitis characterized clinically on the trunk and both extremities for 20 years, and some by recurrent oral aphthous and genital ulcers, cutaneous of the lesions had healed to leave atrophic scars (Fig. 1A, lesions, and iridocyclitis/posterior uveitis2. DD can be B). She also had recurrent oral and genital ulcers for 20 Fig. 1. (A, B) Erythematous to brownish papules with porcelain- white central atrophy. (C) Recurrent oral aphthous ulcer. Received March 13, 2014, Revised May 14, 2014, Accepted for publication June 23, 2014 Corresponding author: Jee-Bum Lee, Department of Dermatology, Chonnam National University Hospital, 42 Jebong-ro, Dong-gu, Gwangju 501-757, Korea. Tel: 82-62-220-6684, Fax: 82-62-222-4058, E-mail: [email protected] This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, pro- vided the original work is properly cited. -
Expanding Medical Advisory Board Dr. Lee Shapiro, Chief Medical
Awareness. Diagnosis. Education. Research. Our mission is to support and promote research toward treatment and cure of Scleroderma, Degos Disease, and other related disorders, to promote awareness and understanding of these disorders, especially among health-care professionals, and to encourage collaborative efforts, nationally and internationally, aimed at realizing these goals. Expanding Medical Advisory Board Dr. Lee Shapiro, Chief Medical Thank you to all who attended our Officer of the Steffens Foundation, has forged strong Cruise for a Real Cure! collaborative relationships with Scleroderma and Degos More than 100 people took a ride along Disease experts nationally and internationally. He the Hudson River on the Dutch Apple to recently invited 3 physicians and a medical ethicist, who raise awareness and funding for are prestigious experts in their fields, to join Steffens as Scleroderma and Degos Disease members of the medical advisory board for the research and education. foundation. They all graciously agreed to join Steffens in our mission. It is with great pleasure, we introduce Dr. Lesley Saketkoo, Dr. Leslie Frech, Dr. Patrick Whelan, and Stephen Veit, medical ethicist. Dr. Lesley A Saketkoo, MD, MPH, is a researcher, educator and clinician in scleroderma/systemic sclerosis, sarcoidosis, myositis, pulmonary hypertension and interstitial lung disease. In 2011, she established the Scleroderma and Sarcoidosis Patient Care and Research Center between Tulane and Louisiana State University, “center of excellence” by the European Scleroderma Trials and Research Group (EUSTAR), the Thank you to all who donated to make Scleroderma Foundation, and the Scleroderma Clinical Trials Consortium (SCTC).; the event a success! and also established the Pulmonary Hypertension clinic program at LSU, which is Dutch Apple Cruises & Tours now the LSU-Tulane collaborative Comprehensive Pulmonary Hypertension Center DeMarco’s Italian-American Restaurant (CPHC) at University Medical Center, a Pulmonary Hypertension Association Ellms Family Farms certified center of excellence. -
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. -
Ectodermal Dysplasia (Generic Term)
Ectodermal Dysplasia (generic term) Authors: Doctor Kathleen Mortier1, Professor Georges Wackens1 Creation date: September 2004 Scientific Editor: Professor Antonella Tosti 1Department of stomatology and maxillofacial surgery, AZ VUB Brussels, Belgium [email protected] Definition Clinical classification of Ectodermal dysplasias References Definition Ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures, such as hypohidrosis, hypotrichosis, onychodysplasia and hypodontia or anodontia. About 160 clinically and genetically distinct hereditery ectodermal dysplasias have been cataloged. In the early seventies there existed no definition and no classification. Freire-Maia and Pinheiro tried to put some order in the field of ectodermal dysplasias. Firstly, the group should be defined before an attempt was made to list its conditions. Secondly, the group was so large that it was necessary to split it into several subgroups. So they decided that an ED should present any two of the signs that affected the four structures widely mentioned by the authors who studied the classic EDs – hair, teeth, nails and sweat glands – with or without any other sign (see blow). The system is arbitrary without biological relevance to the pathogenesis and genetics of the specific disorder. However, classification based on clinical signs and symptoms is all that has been available until recently, since the pathogenesis and molecular genetics of the disorder are largely unknown. Clinical classification of Ectodermal dysplasias (Pinheiro and Freire-Maia, 1994) Unknown cause Conditions AD AR XL ? AD? AR? XL? Subgroup 1-2-3-4 1. Christ-Siemens-Touraine (CST) syndrome (MIM 305100; XR BDE 0333; POS 3208; FMP 1) 2. -
Nova Scotia Atlee Perinatal Database Coding Manual 15 Edition (Version
Nova Scotia Atlee Perinatal Database Coding Manual 15th Edition (Version 15.0.0) April 2011 TABLE OF CONTENTS LISTINGS OF HOSPITALS 11 ADMISSION INFORMATION 16 DELIVERED ADMISSION 26 Routine Information – Delivered Admission 26 Routine Information – Labour 57 Routine Information – Infant 77 UNDELIVERED ADMISSION 94 Routine information – undelivered 94 POSTPARTUM ADMISSIONS 104 Routine Information – Postpartum Admission 104 NEONATAL ADMISSIONS 112 Routine Information – Neonatal Admissions 112 ADULT RCP CODES 124 INFANT RCP CODES 143 INDEX OF MATERNAL DISEASES AND PROCEDURES 179 INDEX OF NEONATAL DISEASES AND PROCEDURES 195 1 INDEX FOR ADMISSION INFORMATION Admission date .............................................................................................................................. 17 Admission time .............................................................................................................................. 17 Admission process status ............................................................................................................... 25 Admission type .............................................................................................................................. 17 A/S/D number ................................................................................................................................ 18 Birth date ....................................................................................................................................... 18 Care provider attending ................................................................................................................ -
Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
92 Pulkkinen, Ringpfeil, and Uitto JAM ACAD DERMATOL JULY 2002 Table I. Genodermatoses with known gene defects Reference Disease Mutated gene* Affected protein/function No.† Epidermal fragility disorders DEB COL7A1 Type VII collagen 6 Junctional EB LAMA3, LAMB3, ␣3, 3, and ␥2 chains of laminin 5, 6 LAMC2, COL17A1 type XVII collagen EB with pyloric atresia ITGA6, ITGB4 ␣64 Integrin 6 EB with muscular dystrophy PLEC1 Plectin 6 EB simplex KRT5, KRT14 Keratins 5 and 14 46 Ectodermal dysplasia with skin fragility PKP1 Plakophilin 1 47 Hailey-Hailey disease ATP2C1 ATP-dependent calcium transporter 13 Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 Keratins 1 and 10 46 Ichthyosis hystrix KRT1 Keratin 1 48 Epidermolytic PPK KRT9 Keratin 9 46 Nonepidermolytic PPK KRT1, KRT16 Keratins 1 and 16 46 Ichthyosis bullosa of Siemens KRT2e Keratin 2e 46 Pachyonychia congenita, types 1 and 2 KRT6a, KRT6b, KRT16, Keratins 6a, 6b, 16, and 17 46 KRT17 White sponge naevus KRT4, KRT13 Keratins 4 and 13 46 X-linked recessive ichthyosis STS Steroid sulfatase 49 Lamellar ichthyosis TGM1 Transglutaminase 1 50 Mutilating keratoderma with ichthyosis LOR Loricrin 10 Vohwinkel’s syndrome GJB2 Connexin 26 12 PPK with deafness GJB2 Connexin 26 12 Erythrokeratodermia variabilis GJB3, GJB4 Connexins 31 and 30.3 12 Darier disease ATP2A2 ATP-dependent calcium 14 transporter Striate PPK DSP, DSG1 Desmoplakin, desmoglein 1 51, 52 Conradi-Hu¨nermann-Happle syndrome EBP Delta 8-delta 7 sterol isomerase 53 (emopamil binding protein) Mal de Meleda ARS SLURP-1