DOCSLIB.ORG

Congenital Diseases and Syndromes Jarrah Ali Al-Tubaikh Maximilian F

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Congenital Diseases and Syndromes Jarrah Ali Al-Tubaikh Maximilian F Congenital Diseases and Syndromes Jarrah Ali Al-Tubaikh Maximilian F. Reiser Congenital Diseases and Syndromes An Illustrated Radiological Guide Dr. Jarrah Ali Al-Tubaikh Prof. Dr. Maximilian F. Reiser, FRCR, FACR Universitätsklinikum München Universitätsklinikum München Klinikum Großhadern Klinikum Großhadern Institut für Klinische Radiologie Institut für Klinische Radiologie Marchioninistr. 15 Marchioninistr. 15 81377 München 81377 München Germany Germany [email protected] [email protected] Radiologist, Medical Illustrator Department of Diagnostic Radiology Sabah Hospital, Kuwait All illustrations marked with were drawn by the author. ISBN: 978-3-642-00159-8 e-ISBN: 978-3-642-00160-4 DOI: 10.1007/978-3-642-00160-4 Springer Dordrecht Heidelberg London New York Library of Congress Control Number: 2009921988 © Springer-Verlag Berlin Heidelberg 2009 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfi lm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer. Violations are liable to prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specifi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publishers cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Cover design: eStudioCalamar, Figueres/Berlin Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) This book is dedicated to my mother, my father, my family, and my beloved country Kuwait. Preface Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a syn- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malforma- tions as early as possible. Although radiology offers very powerful tools for diagno- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a defi nition, description, etiology, diagnostic crite- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today. Important clinical manifestations, rare radio- logical signs, gross pathological morphology, or special classifi cations are illustrated by using digital medical illustrations and digital photo manipulation. Radiology is a visual science, and no matter how well-written the description of a sign, if you do not see the sign, it is usually diffi cult to identify it in a real situation. As a radiologist, artist, professional graphic designer, and medical illustrator, I used to collect and draw the diffi cult and rare signs by using digital media. Over time, a huge archive of disease signs accumulated in my computer, from where this book came into life. When I started studying congenital diseases and their radiological features, I faced many diffi culties in fi nding defi nitions of the anomalies and their descriptions. There is no clear-cut line that tells the junior radiologist which case is a specialized case and which case is a general congenital anomaly that he/she should be aware of. You can easily get caught up in details and be sidetracked when reading a big reference text- book. For example, if you want to study a case of dwarfi sm, you will fi nd yourself reading about case one, which has a similarity to case two, that will refer you to case three, and so on. In this book, I tried to collect and illustrate many of the cases in which radiology plays an important diagnostic role. Moreover, I included congenital malformations that are commonly mentioned in the radiological board examinations, vii viii Preface or can be faced occasionally in a busy radiological department. Some of the cases included are rare and considered to be specialty-related cases, but in my opinion they are interesting to know about. The main goal of this book is to serve as a visual guide for radiology students and doctors interested in congenital diseases. The book is not intended as a substitute for standard radiological textbooks or common reference texts. Readers who are inter- ested in more details are kindly requested to refer to the selected references supplied or to any specialized medical textbook. Finally, I hope this book and its illustrations serve the reader by simplifying the congenital diseases and malformations for him/her. After all, increasing the quality and precision of diagnosis is the aim of any doctor. Munich, Germany Jarrah Ali Al-Tubaikh Maximilian F. Reiser Acknowledgments I would like to thank the people who contributed to this project by supplying me with many of the cases illustrated in this book from their private archives: Alaa Abou-Beih, Bader Al-Mahdi, Khaled Al-Sayyed, Magdi Al-Taweel, Tarek Al-Zayat, Ibrahim Helmi, and Rajae Makar. Also, I would like to thank the people who supported me and this project, and helped me in many ways to accomplish it: Samar Al-Farra, Moneera Al-Husaini, Ahmed Al-Mutairi, Mohammed Sami Khalifa (MD), Ibrahim Al-Abdulhadi (MD), Salman Al-Haqqan, Jalal Al-Baghli, Salman Jamal, Bashar Al-Shawaf, Ali Al-Shubbar, Adel Reda (MD), Mohammed Awad, Sameer Abu-Rabea, and Wieland Sommer (MD). ix Contents 1 The CNS . 1 1.1 Anencephaly (Acrania). 2 1.2 Encephalocele. 3 1.3 Holoprosencephaly . 5 1.4 Hydranencephaly . 8 1.5 Schizencephaly . 10 1.6 Septo-optic Dysplasia (de Morsier Syndrome) . 12 1.7 Corpus Callosum Dysgenesis . 13 1.8 Gyral Abnormalities . 15 1.9 Gray Matter Heterotopias . 18 1.10 Arnold-Chiari Malformations. 20 1.11 Dandy-Walker Malformation . 23 1.12 Cavum Septum Pellucidum and Cavum Vergae . 26 1.13 Fahr Disease . 28 1.14 Menkes and Wilson Diseases . 30 1.15 Cerebellar Anomalies . 32 2 The Head and Neck . 35 2.1 Eagle Syndrome . 36 2.2 Hyperostosis Frontalis Interna . 37 2.3 Craniofacial Fibrous Dysplasia and Its Anomalies. 38 2.4 Gardner Syndrome . 41 2.5 Choanal Atresia. 42 2.6 Congenital Cystic Lesions of the Head and Neck . 43 2.7 External Auditory Canal Atresia. 49 2.8 Congenital Anomalies of the Internal Ear (Congenital Hearing Loss) . 50 2.9 Hearing Loss Syndromes . 53 2.10 Petrous Bone Vascular Anomalies . 56 2.11 Orbital Anomalies. 59 2.12 Congenital Cholesteatoma . 64 3 The Chest and Heart . 67 3.1 Azygos Fissure . 68 3.2 Scimitar Syndrome (Hypogenic Lung Syndrome) . 69 3.3 Horseshoe Lung . 71 xi xii Contents 3.4 Poland Syndrome . 73 3.5 Bronchiectasis. 74 3.6 Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia) . 76 3.7 Aortic Arch Anomalies . 78 3.8 Coronary Artery Anomalies . 83 3.9 Rare Congenital Heart Anomalies . 88 4 The Abdomen and Pelvis. 95 4.1 Heterotaxy Syndromes . 96 4.2 Chilaiditi Syndrome . 98 4.3 Meckel Diverticulum . 99 4.4 Duodenal and Jejunoileal Atresias . 101 4.5 Budd-Chiari Syndrome. 102 4.6 Cruveilhier-Baumgarten Syndrome . 104 4.7 Choledochal Cyst and Caroli Disease. 108 4.8 Mirizzi Syndrome . 110 4.9 Congenital Anomalies of the Spleen. 111 4.10 Anomalies of the Inferior Vena Cava . 113 4.11 Congenital Anomalies of the Kidneys . 117 4.12 Congenital Uterine Malformations. 121 4.13 Retrocaval Ureter . 125 4.14 Hematocolpos . 127 4.15 Alagille Syndrome (Arteriohepatic Dysplasia) . 129 5 The Musculoskeletal System . 131 5.1 Basic Concepts in Bone Dysplasias . 132 5.2 Congenital Radioulnar Synostosis . 139 5.3 Klippel-Feil Syndrome (Blocked Cervical Vertebrae) . 140 5.4 Spinal Dysraphism . 142 5.5 Vertebral Clefts. 145 5.6 Arcuate Foramen (Kimmerle Anomaly). 147 5.7 Supracondylar Process of the Humerus . 148 5.8 Tarsal Coalition. 149 5.9 Paget Disease (Ostitis Deformans) . 151 5.10 Osteopetrosis (Albers-Schönburg Disease/Marble Bone Disease). 153 5.11 Mucopolysaccharidosis. 156 5.12 Ollier Disease and Maffucci Syndrome . 159 5.13 Osteogenesis Imperfecta. 161 5.14 Caudal Regression Syndrome and Sirenomelia (Mermaid Syndrome) . ..
Load more

Recommended publications
  • Exostoses, Enchondromatosis and Metachondromatosis; Diagnosis and Management
    Acta Orthop. Belg., 2016, 82, 102-105 ORIGINAL STUDY Exostoses, enchondromatosis and metachondromatosis; diagnosis and management John MCFARLANE, Tim KNIGHT, Anubha SINHA, Trevor COLE, Nigel KIELY, Rob FREEMAN From the Department of Orthopaedics, Robert Jones Agnes Hunt Hospital, Oswestry, UK We describe a 5 years old girl who presented to the region of long bones and are composed of a carti- multidisciplinary skeletal dysplasia clinic following lage lump outside the bone which may be peduncu- excision of two bony lumps from her fingers. Based on lated or sessile, the knee is the most common clinical examination, radiolographs and histological site (1,10). An isolated exostosis is a common inci- results an initial diagnosis of hereditary multiple dental finding rarely requiring treatment. Disorders exostosis (HME) was made. Four years later she developed further lumps which had the radiological associated with exostoses include HME, Langer- appearance of enchondromas. The appearance of Giedion syndrome, Gardner syndrome and meta- both exostoses and enchondromas suggested a possi- chondromatosis. ble diagnosis of metachondromatosis. Genetic testing Enchondroma are the second most common be- revealed a splice site mutation at the end of exon 11 on nign bone tumour characterised by the formation of the PTPN11 gene, confirming the diagnosis of meta- hyaline cartilage in the medulla of a bone. It occurs chondromatosis. While both single or multiple exosto- most frequently in the hand (60%) and then the feet. ses and enchondromas occur relatively commonly on The typical radiological features are of a well- their own, the appearance of multiple exostoses and defined lucent defect with endosteal scalloping and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis.
    [Show full text]
  • SKELETAL DYSPLASIA Dr Vasu Pai
    SKELETAL DYSPLASIA Dr Vasu Pai Skeletal dysplasia are the result of a defective growth and development of the skeleton. Dysplastic conditions are suspected on the basis of abnormal stature, disproportion, dysmorphism, or deformity. Diagnosis requires Simple measurement of height and calculation of proportionality [<60 inches: consideration of dysplasia is appropriate] Dysmorphic features of the face, hands, feet or deformity A complete physical examination Radiographs: Extremities and spine, skull, Pelvis, Hand Genetics: the risk of the recurrence of the condition in the family; Family evaluation. Dwarf: Proportional: constitutional or endocrine or malnutrition Disproportion [Trunk: Extremity] a. Height < 42” Diastrophic Dwarfism < 48” Achondroplasia 52” Hypochondroplasia b. Trunk-extremity ratio May have a normal trunk and short limbs (achondroplasia), Short trunk and limbs of normal length (e.g., spondylo-epiphyseal dysplasia tarda) Long trunk and long limbs (e.g., Marfan’s syndrome). c. Limb-segment ratio Normal: Radius-Humerus ratio 75% Tibia-Femur 82% Rhizomelia [short proximal segments as in Achondroplastics] Mesomelia: Dynschondrosteosis] Acromelia [short hands and feet] RUBIN CLASSIFICATION 1. Hypoplastic epiphysis ACHONDROPLASTIC Autosomal Dominant: 80%; 0.5-1.5/10000 births Most common disproportionate dwarfism. Prenatal diagnosis: 18 weeks by measuring femoral and humeral lengths. Abnormal endochondral bone formation: zone of hypertrophy. Gene defect FGFR fibroblast growth factor receptor 3 . chromosome 4 Rhizomelic pattern, with the humerus and femur affected more than the distal extremities; Facies: Frontal bossing; Macrocephaly; Saddle nose Maxillary hypoplasia, Mandibular prognathism Spine: Lumbar lordosis and Thoracolumbar kyphosis Progressive genu varum and coxa valga Wedge shaped gaps between 3rd and 4th fingers (trident hands) Trident hand 50%, joint laxity Pathology Lack of columnation Bony plate from lack of growth Disorganized metaphysis Orthopaedics 1.
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation
    Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Bovée, J.V.M.G.; Rozeman, L.B.; Sangiorgi, L.; Briaire-de Bruijn, I.H.; Mainil-Varlet, P.; Bertoni, F.; ... ; Hogendoorn, P.C.W. Citation Bovée, J. V. M. G., Rozeman, L. B., Sangiorgi, L., Briaire-de Bruijn, I. H., Mainil-Varlet, P., Bertoni, F., … Hogendoorn, P. C. W. (2004). Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C. Human Mutation, 24, 466-473. Retrieved from https://hdl.handle.net/1887/8144 Version: Not Applicable (or Unknown) License: Downloaded from: https://hdl.handle.net/1887/8144 Note: To cite this publication please use the final published version (if applicable). HUMAN MUTATION 24:466^473 (2004) RAPID COMMUNICATION Enchondromatosis (Ollier Disease, Maffucci Syndrome) Is Not Caused by the PTHR1 Mutation p.R150C Leida B. Rozeman,1 Luca Sangiorgi,2 Inge H. Briaire-de Bruijn,1 Pierre Mainil-Varlet,3 F. Bertoni,4 Anne Marie Cleton-Jansen,1 Pancras C.W. Hogendoorn,1 and Judith V.M.G. Bove´e1* 1Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands; 2Laboratory of Oncology Research, Rizzoli Orthopedic Institute, Bologna, Italy; 3Institute of Pathology, University of Bern, Bern, Switzerland; 4Department of Pathology, Rizzoli Orthopedic Institute, Bologna, Italy Communicated by Arnold Munnich Enchondromatosis (Ollier disease, Maffucci syndrome) is a rare developmental disorder characterized by multiple enchondromas. Not much is known about its molecular genetic background. Recently, an activating mutation in the parathyroid hormone receptor type 1 (PTHR1) gene, c.448C>T (p.R150C), was reported in two of six patients with enchondromatosis.
    [Show full text]
  • What Is Your Diagnosis?
    Photo Quiz What Is Your Diagnosis? CUTIS Do Not Copy A 6-week-old male infant was referred to the dermatology department for evaluation of enlarging facial lesions noted shortly after birth. The patient was delivered at 36 weeks’ gestation by normal spontaneous vaginal delivery with no perinatal complications. His growth and development were otherwise nor- mal. Physical examination revealed large, bright red, nonconfluent macules and plaques in a bilateral temporal distribution extending medially to both eye- lids and laterally to the scalp. PLEASE TURN TO PAGE 119 FOR DISCUSSION Shilpa S. Sawardekar, MD; Heather L. Salvaggio, MD; Andrea L. Zaenglein, MD Drs. Sawardekar and Salvaggio were from and Dr. Zaenglein is from the Department of Dermatology and Pediatrics, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania. Dr. Sawardekar currently is from the Department of Dermatology, Eastern Virginia Medical School, Norfolk. Dr. Salvaggio currently is from the Division of Dermatology, Bassett Medical Center, Cooperstown, New York. The authors report no conflict of interest. Correspondence: Andrea L. Zaenglein, MD, Department of Dermatology, HU14, Penn State Milton S. Hershey Medical Center, 500 University Dr, Hershey, PA 17033 ([email protected]). WWW.CUTIS.COM VOLUME 92, SEPTEMBER 2013 113 Copyright Cutis 2013. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Photo Quiz Discussion The Diagnosis: PHACE Syndrome CUTIS HACE (posterior fossa brain malformations, syndrome is made in the following scenarios: a large hemangiomas, arterial anomalies, cardiac hemangioma greater than 5 cm plus 1 minor crite- Pdefects and coarctation of the aorta, eye and ria, a hemangioma of the neck or upper torso plus endocrine abnormalities) syndrome is a neurocu- 1 major or 2 minor criteria, or no hemangioma plus taneousDo disorder characterized Not by a spectrum of 2 major Copy criteria.4 abnormalities.
    [Show full text]
  • PHACE Syndrome by Cristina Camacho
    www.ComplexChild.com PHACE Syndrome by Cristina Camacho At four weeks old, our baby girl, Elyse, was diagnosed with PHACE Syndrome. This uncommon condition wasn't even known until 1996 when Dr. Ilona J. Frieden, director of Pediatric Dermatology at UCSF Children's Hospital, and her colleagues first used the acronym PHACE to describe it. The word PHACE is an acronym that describes these symptoms: P Posterior fossa malformations (brain malformations) H Large segmented Hemangioma (mainly on the face) A Arterial anomalies of the head and neck C Coarctation of the aorta and cardiac defects E Eye anomalies Children with PHACE Syndrome mainly have one thing in common, a large facial hemangioma or benign tumor sometimes known as a strawberry birthmark. Other symptoms vary in each child. Some children have more life threatening symptoms, while others just have mild symptoms. In Elyse’s case, she had life threatening symptoms that required her to be hospitalized most of her first year and receive home nursing care. When Elyse was diagnosed, there were only 200 reported cases of PHACE. There are no known causes and it is not hereditary. This condition is also more common in girls than in boys. It is important that a child suspected to have PHACE be evaluated by a multidisciplinary vascular anomalies team that includes pediatric dermatology, cardiology and ophthalmology. Testing will include a head and chest MRI/MRA, and an echocardiogram of the heart. Elyse's Story When I was pregnant with Elyse, there were no warning signals, and my pregnancy was completely normal. We were expecting a little girl and couldn’t have been happier.
    [Show full text]
  • Phace Syndrome P
    DOI: 10.14260/jemds/2015/324 CASE REPORT A RARE CASE REPORT: PHACE SYNDROME P. Indira1, A. Swamynaidu2, N. Jayalaxmi3 HOW TO CITE THIS ARTICLE: P. Indira, A. Swamynaidu, N. Jayalaxmi. “A Rare Case Report: Phace Syndrome”. Journal of Evolution of Medical and Dental Sciences 2015; Vol. 4, Issue 13, February 12; Page: 2239-2240, DOI: 10.14260/jemds/2015/324 INTRODUCTION: A syndrome is defined as a recognizable pattern of medical conditions that occur together. Initially described as an association of large cutaneous hemangiomas of the head and anomalies of the cerebral vasculature by pascual-castroviejo in 1978. Subsequently been coined the term PHACE association by Frieden et.al. Frieden created the term PHACE, which is an acronym which refers to Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/ coarctation of the aorta and Eye anomalies. PHACES SYNDROME is PHACE syndrome plus: Sternal cleft, supraumbilical raphe, or both. CASE REPORT: A 6 yrs old male child presented with red colour patch over left side of face since birth and progressive increase in size and decrease in vision of the left eye. On examination, the child had an erythematous patch mainly on the left side of face. An ophthalmic examination of the left side revealed micro-opthalmous and microcornea with corneal opacity. Examination of other systems was unremarkable. Echocardiography was normal, Magnetic Resonance Imaging (MRI) of orbits and brain showed the presence of Hemangioma in left temporal fossa and periorbital soft tissues with intraorbital extension and coloboma of left eye, hypoplastic left cerebellar hemisphere and left unilateral megalencephaly with prominent sulci/cisterns.
    [Show full text]
  • Spd 2014 Poster Presentations
    SPD 2014 POSTER PRESENTATIONS ABSTRACT OWNER TITLE CATEGORY Admani, Shehla Countering Staphylococcus Atopic Dermatitis Overgrowth During Patch Testing in Moderate-Severe Atopic Dermatitis Patients Aggarwal, Smita A Rare Case of Sinus Pericranii Vascular Lesions Arca, Ercan Clinical and dermoscopic features Tumors/Neoplasms of congenital melanocytic nevi in Turkish children Barrick, Benjamin Penile and scrotal edema: an under Psoriasis/Inflammatory Skin recognized presentation of Crohn’s Conditions Disease Bayart, Cheryl Refractory Pyoderma Gangrenosum Psoriasis/Inflammatory Skin Associated with Chronic Recurrent Conditions Multifocal Osteomyelitis: Novel Therapeutic Options Bercovitch, Lionel Iatrogenic acquired acrodermatitis Miscellaneous enteropathica associated with treatment of hypermanganesemia in an era of trace element shortage Brandt, Staci Cutaneous Tolerability and Subject Medications/Therapies Satisfaction of an Over the Counter Cleansing and Moisturizing Regimen in Subjects Aged 7 to 11 Years With Acne Prone Skin Brandt, Staci Tolerability and Cosmetic Atopic Dermatitis Acceptability of a Body Wash in Atopic Dermatitis Prone Subjects SPD 2014 POSTER PRESENTATIONS ABSTRACT OWNER TITLE CATEGORY Caldwell, Chauncey The Prevalence of Alopecia Areata Miscellaneous Among 572,617 Pediatric Patients Seen in Dermatology Private Practices throughout the United States Chiu, Yvonne Analysis of Systemic Sclerosis Psoriasis/Inflammatory Skin Candidate Genes from Whole Conditions Exome Sequencing of Pediatric Morphea Lesional Tissue Diaz,
    [Show full text]
  • 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 ␣6␤4 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
    [Show full text]
  • Association of Hearing Loss with PHACE Syndrome
    OBSERVATION ONLINE FIRST Association of Hearing Loss With PHACE Syndrome Kelly J. Duffy, PhD; Christina Runge-Samuelson, PhD; Michelle L. Bayer, BS; David Friedland, MD, PhD; Cecille Sulman, MD; Robert Chun, MD; Joseph E. Kerschner, MD; Denise Metry, MD; Denise Adams, MD; Beth A. Drolet, MD Background: PHACE syndrome describes a spectrum nance imaging features of lesions consistent with of anomalies associated with large facial infantile hem- intracranial hemangiomas involving auditory struc- angiomas and characterized by posterior fossa malfor- tures. All 6 patients had facial hemangiomas in a nearly mations, hemangiomas, arterial anomalies, coarctation identical distribution ipsilateral to the ear with the hear- of the aorta and cardiac defects, and eye abnormalities. ing loss, with involvement of the proposed facial seg- With improved recognition and imaging practices of ments S1 and S3, the affected ear, the periauricular re- infants with PHACE syndrome, additional associations gion, and the midoccipital area of the scalp. have been identified. To our knowledge, the potential association of ipsilateral hearing loss and PHACE syn- Conclusions: There is an underrecognized risk of hear- drome has not been previously emphasized. ing loss in patients with PHACE syndrome, although the exact nature of such deficiencies can vary. Patients with Observations: We describe 6 patients, 4 with definite PHACE syndrome who have cutaneous hemangiomas in- and 2 with probable PHACE syndrome, according to the volving the ear should be evaluated for intracranial hem- new diagnostic criteria, and associated auditory deficien- angiomas and monitored for hearing loss. Early detec- cies. One patient had isolated conductive hearing loss; tion and therapy of intracranial hemangiomas may slow 2 patients had isolated sensorineural hearing loss; 1 pa- or stop tumor growth, resultant hearing loss, and struc- tient had mixed hearing loss (both conductive and sen- tural damage.
    [Show full text]
  • EUROCAT Syndrome Guide
    JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE
    [Show full text]
  • To the Editor
    Endocr. J./ A. MUSSA et al.: HYPOTHYROIDISM IN PHACES SYNDROME doi: 10.1507/endocrj. K07E-155 LETTER TO THE EDITOR Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome. MUSSA Alessandro1, CORRIAS Andrea1, BALDASSARRE Giuseppina2, BIAMINO Elisa2, SILENGO Margherita2. 1. Pediatric Endocrinology, Department of Paediatrics, University of Torino, Italy 2. Clinical Genetics, Department of Paediatrics, University of Torino, Italy Received December 12, 2007; Accepted December 20, 2007; Released online February 4, 2008 Correspondence to: Mussa Alessandro MD, Division of Pediatric Endocrinology, Department of Paediatrics, University of Torino, Regina Margherita Children Hospital, piazza Polonia 94, 10126 Torino, Italy The authors declare that no funding sources supported this work and that they have no competing financial interests with respect to this article. Key wrods: Congenital hypothyroidism, Cerebellar atrophy, PHACE syndrome To the Editor Dear Sir, WE read the recent interesting report by Tajima T et al.[1] describing a patient suffering from congenital hypothyroidism and cerebellar atrophy. The patient was reported to have a normal in situ thyroid gland with a functional defect only. The Authors commented on the extremely rare association between congenital hypothyroidism and cerebellar anomalies, described currently only in 3 subjects (but always associated to other malformations). NKX2-1 defect and hypothyroidism-induced cerebellar developmental failure have been discussed and excluded. We would like to add a remark based on our own experience with a girl (which case report is currently in press) affected by a neurocutaneous condition known as PHACES syndrome, which acronym refers to the association of facial haemangiomas, the hallmark of the syndrome, and a spectrum of malformative anomalies including posterior fossa malformations of the brain, arterial anomalies, cardiac defects, eye abnormalities, and sternal clefting [2].
    [Show full text]