DOCSLIB.ORG

NGS Oncology)

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
NGS Oncology) UNIVERSITY OF MINNESOTA PHYSICIANS OUTREACH LABS Submit this form along with the appropriate Molecular requisition (Molecular Diagnostics or MOLECULAR DIAGNOSTICS (612) 273-8445 DATE: TIME COLLECTED: PCU/CLINIC: Molecular NGS Oncology). AM PM PATIENT IDENTIFICATION DIAGNOSIS (Dx) / DIAGNOSIS CODES (ICD-9) - OUTPATIENTS ONLY SPECIMEN TYPE: o Blood (1) (2) (3) (4) PLEASE COLLECT 5-10CC IN ACD-A OR EDTA TUBE ORDERING PHYSICIAN NAME AND PHONE NUMBER: Tests can be ordered as a full panel, or by individual gene(s). Please contact the genetic counselor with any questions at 612-624-8948 or by pager at 612-899-3291. _______________________________________________ Test Ordered- EPIC: Next generation sequencing(Next Gen) Sunquest: NGS Ectodermal dysplasia epidermolysis bullosa simplex with Acne inversa muscular dystrophy Full panel PLEC Full panel EDA Epidermolytic hyperkeratosis NCSTN EDARADD Full panel PSENEN MSX1 KRT1 PSEN1 KRT85 KRT10 Acrodermatitis enteropathica PVRL4 Erythroderma, congenital, with NFKBIA palmoplantar keratoderma, SLC39A4 IKBKG hypotrichosis, and hyper IgE Amyloidosis, primary localized Ectodermal dysplasia/skin fragility DSG1 cutaneous, 1 syndrome Erythrokeratodermia variabilis with PKP1 erythema gyratum repens Full panel Ectrodactyly, ectodermal dysplasia, GJB4 OSMR and cleft lip/palate syndrome 3 Familial benign pemphigus IL31RA TP63 ATP2C1 Atrichia with papular lesions Focal facial dermal dysplasia 3 Focal dermal hypoplasia TWIST2 HR PORCN Epidermodysplasia verruciformis Autosomal recessive hypohidrotic Glomuvenous malformations Full panel ectodermal dysplasia syndrome GLMN TMC6 Griscelli syndrome EDAR TMC8 Full panel Buschke-Ollendorff syndrome Epidermolysis bullosa dystrophica RAB27A COL7A1 MYO5A LEMD3 Epidermolysis bullosa simplex Cleft lip/palate-ectodermal dysplasia MLPH Full panel syndrome Hyaline fibromatosis syndrome KRT14 ANTXR2 PVRL1 KRT5 Hyperpigmentation, Cole disease Epidermolysis bullosa, junctional, Herlitz type KITLG ENPP1 Full panel Hypotrichosis Corneal intraepithelial dyskeratosis LAMA3 Full panel and ectodermal dysplasia LAMB3 DSC3 LAMC2 LPAR6 COL17A1 APCDD1 NLRP1 Darier disease ITGB4 KRT74 ITGA6 DSG4 ATP2A2 DSP LIPH 4/1/2014 Version 1 Ichthyosis Palmoplantar keratoderma, epidermolytic Full panel KRT9 ABHD5 Papillon-Lefèvre syndrome CSTA CTSC KRT2 Peeling skin syndrome KRT1 CDSN SLC27A4 Peeling skin syndrome, acral type KRT10 TGM5 ST14 Pityriasis rubra pilaris TGM1 CARD14 PNPLA1 Poikiloderma with neutropenia ALOX12B USB1 ALOXE3 Porokeratosis, disseminated ABCA12 superficial actinic, 1 CYP4F22 SART3 NIPAL4 Psoriasis, generalized pustular LIPN IL36RN CLDN1 Pyogenic sterile arthritis, pyoderma STS gangrenosum, and acne SPINK5 PSTPIP1 Reticulate acropigmentation of LOR Kitamura Keratosis ADAM10 Full panel Seborrhea-like dermatitis with AQP5 psoriasiform elements MBTPS2 ZNF750 POMP Tylosis with esophageal cancer Kindler syndrome RHBDF2 FERMT1 UV-sensitive syndrome Lipid proteinosis / Urbach-Wiethe Full panel ECM1 ERCC6 Meleda disease ERCC8 SLURP1 UVSS3 Monilethrix Venous malformations, multiple cutaneous and mucosal Full panel TEK KRT81 White sponge nevus KRT83 KRT13 KRT86 KRT4 Olmsted syndrome Woolly hair, autosomal dominant TRPV3 KRT74 Odontoonychodermal dysplasia WNT10A Pachyonychia congenita Full panel KRT17 KRT6B KRT16 KRT6A 4/1/2014 Version 1 .
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
    [Show full text]
  • Keratosis Circumscripta Revisited: a Case Report and Review of the Literature
    CONTINUING MEDICAL EDUCATION Keratosis Circumscripta Revisited: A Case Report and Review of the Literature LCDR Eric P. Brumwell, MC, USN; LCDR Sean J. Murphy, MC, USN GOAL To understand keratosis circumscripta to better manage patients with the condition OBJECTIVES Upon completion of this activity, dermatologists and general practitioners should be able to: 1. Describe the clinical presentation of keratosis circumscripta. 2. Discuss the disorders often compared to keratosis circumscripta. 3. Identify treatment options for keratosis circumscripta. CME Test on page 378. This article has been peer reviewed and approved Einstein College of Medicine is accredited by by Michael Fisher, MD, Professor of Medicine, the ACCME to provide continuing medical edu- Albert Einstein College of Medicine. Review date: cation for physicians. April 2007. Albert Einstein College of Medicine designates This activity has been planned and imple- this educational activity for a maximum of 1 AMA mented in accordance with the Essential Areas PRA Category 1 CreditTM. Physicians should only and Policies of the Accreditation Council for claim credit commensurate with the extent of their Continuing Medical Education through the participation in the activity. joint sponsorship of Albert Einstein College of This activity has been planned and produced in Medicine and Quadrant HealthCom, Inc. Albert accordance with ACCME Essentials. Drs. Brumwell and Murphy report no conflict of interest. The authors report no discussion of off-label use. Dr. Fisher reports no conflict of interest. Keratosis circumscripta, also known as psoriasis been shown to improve, but not resolve, with kerat- circumscripta with palmoplantar keratosis, is a inolytic therapies. Some debate exists concern- rarely reported condition that manifests as well- ing the terminology used to identify this condition.
    [Show full text]
  • Ectodermal Dysplasias: a New Clinical-Genetic Classification
    J Med Genet 2001;38:579–585 579 Ectodermal dysplasias: a new clinical-genetic J Med Genet: first published as 10.1136/jmg.38.9.579 on 1 September 2001. Downloaded from classification Manuela Priolo, Carmelo Laganà Abstract many case reports and personal communica- The ectodermal dysplasias (EDs) are a tions in their listing of EDs, as well as large and complex nosological group of conditions traditionally classified under other diseases, first described by Thurnam in headings, for example dyskeratosis congenita11 1848. In the last 10 years more than 170 and keratitis-ichthyosis-deafness (KID) syn- diVerent pathological clinical conditions drome12 (poikiloderma and immune defect have been recognised and defined as EDs, diseases and erythrokeratodermas, respec- all sharing in common anomalies of the tively). Further, they did not appear to hair, teeth, nails, and sweat glands. Many consider variability of expression and may are associated with anomalies in other have reported, as distinct diseases, conditions organs and systems and, in some condi- that reflect variable expression of the same tions, with mental retardation. pathological entity. Moreover, they included The anomalies aVecting the epidermis pathological conditions which, in our opinion, and epidermal appendages are extremely do not strictly fulfil the diagnostic criteria for variable and clinical overlap is present EDs, such as conditions with secondary among the majority of EDs. Most EDs are involvement of epidermal derivatives rather defined by particular clinical signs (for than a primary defect. We abandoned the 1-2- example, eyelid adhesion in AEC syn- 3-4 designation of EDs, because we believe drome, ectrodactyly in EEC).
    [Show full text]
  • 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.
    [Show full text]
  • Revertant Mosaicism in a Human Skin Fragility Disorder Results from Slipped Mispairing and Mitotic Recombination
    Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination Dimitra Kiritsi, … , Leena Bruckner-Tuderman, Cristina Has J Clin Invest. 2012;122(5):1742-1746. https://doi.org/10.1172/JCI61976. Brief Report Dermatology Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in various ways. Here we describe a disseminated pattern of revertant mosaicism observed in 6 patients with Kindler syndrome (KS), a genodermatosis caused by loss of kindlin-1 (encoded by FERMT1) and clinically characterized by patchy skin pigmentation and atrophy. All patients presented duplication mutations (c.456dupA and c.676dupC) in FERMT1, and slipped mispairing in direct nucleotide repeats was identified as the reversion mechanism in all investigated revertant skin spots. The sequence around the mutations demonstrated high propensity to mutations, favoring both microinsertions and microdeletions. Additionally, in some revertant patches, mitotic recombination generated areas with homozygous normal keratinocytes. Restoration of kindlin-1 expression led to clinically and structurally normal skin. Since loss of kindlin-1 severely impairs keratinocyte proliferation, we predict that revertant cells have a selective advantage that allows their clonal expansion and, consequently, the improvement of the skin condition. Find the latest version: https://jci.me/61976/pdf Brief report Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination Dimitra Kiritsi,1 Yinghong He,1 Anna M.G. Pasmooij,2 Meltem Onder,3 Rudolf Happle,1 Marcel F.
    [Show full text]
  • Mal De Meleda in a Taiwanese
    S.C. Chao, F.J. Lai, M.H. Yang, et al MAL DE MELEDA IN A TAIWANESE Sheau-Chiou Chao, Feng-Jei Lai, Mei-Hui Yang, and Julia Yu-Yun Lee Abstract: Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-α release. A 27-year- old Taiwanese woman who had a history of palmoplantar keratoderma since birth presented with severe erythrokeratoderma of the hands and feet in a glove-and-stocking distribution with conical tapering of the fingers, and involvement of the skin over the major joints and thighs. There were also widespread mottled hyperpigmented macules. Mutation analysis revealed a homozygous missense mutation (G86R) in exon 3 of ARS gene of this patient. Key words: ARS protein, human; Keratoderma, palmoplantar; Mutation, missense; Neuronal nicotinic acetylcholine receptor alpha7; Taiwan J Formos Med Assoc 2005;104:276-8 Keratoderma palmoplantare transgrediens or mal de that appeared soon after birth. The family reported no Meleda (MDM) is a rare autosomal recessive inflam- known consanguinity. She was the only affected member matory keratoderma, characterized by diffuse erythema in the family. On examination, the patient had marked and hyperkeratosis of the hands and feet that appears erythema and hyperkeratosis of the hands and feet soon after birth and progressively extends to the dorsal in a glove-and-stocking distribution, accompanied by aspect of the hands and feet and around the wrist malodor (Fig.).
    [Show full text]
  • Abstract Book
    Abstract Book First World Conference on Ichthyosis August 31 – September 2, 2007 Münster, Germany Organized by Network for Ichthyoses and related keratinization disorders (NIRK) together with Selbsthilfe Ichthyose e.V. and EU-Coordination Action GENESKIN Contacts: H. Traupe, Münster, Email: [email protected] B. Willis, Münster, Email: [email protected] Barbara Kleinow, Email: [email protected] Geske Wehr, Email: [email protected] Location: Lecture Hall Location:Department of Dermatology University Hospital Von Esmarch-Str. 58 48149 Münster Germany Friday, August 31, 2007 page Workshop on clinical diversity and diagnostic standardization D. Metze, Münster Histopathology of ichthyoses: Clues for diagnostic standardization ..................................... 19 I. Hausser, Heidelberg Ultrastructural characterization of lamellar ichthyosis: A tool for diagnostic standardization 13 H. Verst, Münster The data base behind the NIRK register: a secure tool for genotype/phenotype analysis 34 V. Oji, Münster Classification of congenital ichthyosis ................................................................................... 20 M. Raghunath, Singapore Congenital Ichthyosis in South East Asia ............................................................................. 25 Keratinization disorders and keratins I. Hausser, Heidelberg Ultrastructure of keratin disorders: What do they have in common? ................................... 12 M. Arin, Köln Recent advances in keratin disorders .................................................................................
    [Show full text]
  • 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,
    [Show full text]
  • Goltz Syndrome Nsu-Com / Larkin Community Hospital Presenters: Ann R Eed, Do, Hyunhee Park, Do, Julie Frederickson , Do
    GOLTZ SYNDROME NSU-COM / LARKIN COMMUNITY HOSPITAL PRESENTERS: ANN R EED, DO, HYUNHEE PARK, DO, JULIE FREDERICKSON , DO. PROGRAM DIRECTOR: STANLEY SKOPIT, DO, MSE, FAOCD Case presentation 17 year old female with established diagnosis of Goltz syndrome presented to our office Jan. 2011 with c/o “Dry skin and itchy scalp” PE: Syndromic facies w/ aniridia, microphthalmia, short stature, sparse hair, hypodontia, syndactyly, blaschko linear hyper and hypopigmentation, perioral papillomas, scaly scalp and xerotic skin Dx: Xerosis Cutis , Seborrhea and alopecia in patient with Goltz Tx: Ketoconazole 2% shampoo MWF alt with T/Sal Lidex solution BID x 2 weeks to scalp Cerave/Cetaphil to body Biotin 2500 mcg daily Bx’s: 3/8/11 Shave biopsy (R labial commissure) - Verruca with candidiasis 3/22/11 Shave biopsy (L labial commissure) - Impetiginized Verruca with candidiasis Ketoconazole 2% cream BID given for topical treatment Goltz Syndrome Overview Focal Dermal Hypoplasia or Goltz-Gorlin syndrome Rare genodermatosis Multiple abnormalities of mesodermal and ectodermal tissues First described by Dr. Goltz in 1962 Approximately 300 reported cases worldwide Inheritance X-linked dominant 90% female Lethal in males with non-mosaic hemizygous mutations 10% affected individuals: males with genomic or functional mosaicism 95% of cases are sporadic Gene locus Xp11.23 Mutation in PORCN gene lack of Wnt signaling Variability in clinical severity (lyonization) Goltz Syndrome Cutaneous Findings Wu M-C et al. / Dermatologica Sinica 29 (2011) 59-62 Wang
    [Show full text]
  • Blueprint Genetics Ectodermal Dysplasia Panel
    Ectodermal Dysplasia Panel Test code: DE0401 Is a 25 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of ectodermal dysplasia (hidrotic or hypohidrotic) or Ellis-van Creveld syndrome. About Ectodermal Dysplasia Ectodermal Dysplasia (ED) is a group of closely related conditions of which more than 150 different syndromes have been identified. EDs affects the development or function of teeth, hair, nails and sweat glands. ED may present as isolated or as part of a syndromic disease and is commonly subtyped according to sweating ability. The clinical features of the X-linked and autosomal forms of hypohidrotic ectodermal dysplasia (HED) can be indistinguishable and many of the involved genes may lead to phenotypically distinct outcomes depending on number of defective alleles. The most common EDs are hypohidrotic ED and hydrotic ED. X-linked hypohidrotic ectodermal dysplasia (HED) is caused by EDA mutations and explain 75%-95% of familial HED and 50% of sporadic cases. HED is characterized by three cardinal features: hypotrichosis (sparse, slow-growing hair and sparse/missing eyebrows), reduced sweating and hypodontia (absence or small teeth). Reduced sweating poses risk for episodes of hyperthermia. Female carriers may have some degree of hypodontia and mild hypotrichosis. Isolated dental phenotypes have also been described. Mutations in WNT10A have been reported in up to 9% of individuals with HED and in 25% of individuals with HED who do not have defective EDA. Approximately 50% of individuals with heterozygous WNT10A mutation have HED and the most consistent clinical feature is severe oligodontia of permanent teeth.
    [Show full text]
  • Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
    Practice parameter Practice parameter for the diagnosis and management of primary immunodeficiency Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Chief Editor: Francisco A. Bonilla, MD, PhD Co-Editor: David A. Khan, MD Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ These parameters were developed by the Joint Task Force on Practice Parameters, representing Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ the American Academy of Allergy, Asthma & Immunology; the American College of Novartis and Merck.
    [Show full text]
  • The First Reported Case of a Variant of Mal De Maleda of the Gamborg
    Our Dermatology Online Case Report Th e fi rrstst rreportedeported ccasease ooff a vvariantariant ooff MMalal ddee MMaledaaleda ooff tthehe GGamborg-Nielsenamborg-Nielsen ttypeype iinn aann EEgyptiangyptian ooriginrigin ppatientatient Khalid M. Al-Husain1, Ahmed A. Al-Thubaiti1, Farah M. Alzahrani2, Iqbal A. Bukhari3, Mohammad El-Shawarby4 1College of Medicine, Imam Abdulrahman Bin Faisal University (IAU), Dammam, Kingdom of Saudi Arabia, 2College of Medicine, Arabian Gulf University (AGU), Bahrain, 3Dermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU) and King Fahd Hospital of the University, Dammam, Kingdom of Saudi Arabia, 4Pathology Department, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU) and King Fahd Hospital of the University, Dammam, Kingdom of Saudi Arabia Corresponding author: Prof. Iqbal A. Bukhari, E-mail: [email protected] ABSTRACT Mal de Meleda is a rare genodermatosis with an autosomal recessive inheritance. Mutations in the SLURP1 gene are the cause of this disease. Clinically, it is characterized by progressive palmoplantar hyperkeratosis exhibiting a transgradiens pattern extending to the dorsal aspects of the hands and feet in a glove and stocking pattern. It is also associated with hyperhidrosis, nail changes, subungual hyperkeratosis and perioral erythema. Here we report the first case of Gamborg-Nielsen variant of Mal de Meleda disorder in a patient of an Egyptian origin. Key words: Mal de Meleda; Keratoderma; Genodermatosis; SLURP1 gene INTRODUCTION in
    [Show full text]