Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

1219 Pages·2002·22.72 MB·English

by  Peter M. Royce, Beat Steinmann

Connective Tissue
and Its
Heritable Disorders
SECOND EDITION

Connective Tissue
and Its
Heritable Disorders
Molecular, Genetic, and
Medical Aspects
SECOND EDITION
Edited by
Peter M. Royce
and
Beat Steinmann
University of Zurich Children’s Hospital, Zurich, Switzerland
Thisbookisprintedonacid-freepaper.
Copyright2002byWiley-Liss,Inc.,NewYork.Allrightsreserved.
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LibraryofCongressCataloging-in-PublicationData:
Connectivetissueanditsheritabledisorders:molecular,geneticandmedicalaspects/
editors,PeterM.RoyceandBeatSteinmann.--2nded.
p.;cm.
Includesbibliographicalreferencesandindex.
ISBN0-471-25185-2(cloth:alk.paper)
1.Connectivetissues--Diseases--Geneticaspects.2.Connective
tissues--Diseases--Molecularaspects.I.Royce,PeterM.II.Steinmann,BeatU.
[DNLM:1.ConnectiveTissueDisease--genetics.2.ConnectiveTissue--anatomy&
histology.WD375C74852002]
RC924.C542002
616.7(cid:1)7042--dc21
2001026920
PrintedintheUnitedStatesofAmerica.
10987654321
Contents
Preface Peter M. Royce and Beat Steinmann ix
Acknowledgments xi
PrefacetotheFirstEdition Peter M. Royce and Beat Steinmann xiii
Contributors xv
Introduction Research on Collagen in the Author’s Laboratory,
1952–1982
Karl A. Piez 1
Heritable Disorders of Connective Tissue: A
Personal Account of the Origins, Evolution,
Validation,and Expansion of a Concept
Victor A. McKusick 13
BIOLOGY OF EXTRACELLULAR MATRIX
Chapter1 Morphologyand Chemical Compositionof
ConnectiveTissue
PartI Structure ofthe Skin and Tendon
Karen A. Holbrookand Lynne T. Smith 19
PartII Cartilage
NicholasP.Morris,DouglasR.Keene,andWilliam
A. Horton 41
PartIII Bone
RobertK. Schenk, WillyHofstetter, and RolfFelix 67
PartIV TheCardiovascular System
Daniela Quaglino and IvonnePasqualiRonchetti 121
PartV TheEye
Richard Mayne 145
v
vi Contents
Chapter2 Collagen
PartI The Collagen Family: Structure, Assembly, and
Organization in the Extracellular Matrix
Cay M. Kieltyand Michael E. Grant 159
PartII Gene Structure
Mon-Li Chu and Darwin J. Prockop 223
Chapter3 Elastin and theMicrofibrillarApparatus
Joel Rosenbloomand WilliamR. Abrams 249
Chapter4 Glycosylated Matrix Proteins
DickHeinega˚rd,AndersAspberg,AhndersFranze´n,
and Pilar Lorenzo 271
Chapter5 AdhesiveGlycoproteins
Klausvon der Mark and Lydia Sorokin 293
Chapter6 Keratins
E. BirgitteLane 329
Chapter7 Extracellular Matrix Degradation
Gillian Murphyand JohnJ. Reynolds 343
HERITABLEDISORDERS OF CONNECTIVE TISSUE
Chapter8 Osteogenesis Imperfecta
Peter H. Byers and WilliamG. Cole 385
Chapter9 TheEhlers-DanlosSyndrome
Beat Steinmann, Peter M. Royce, and Andrea
Superti-Furga 431
Chapter10 CutisLaxa and Premature AgingSyndromes
Jeffrey M. Davidson and MariaGabriella Giro 525
Chapter11 PseudoxanthomaElasticum
KennethH. Neldner and BertholdStruk 561
Chapter12 The Marfan Syndrome and Other Microfibrillar
Disorders
Reed E. Pyeritz and Harry C. Dietz 585
Chapter13 TheHomocystinurias
Flemming Skovby and Jan P. Kraus 627
Chapter14 MenkesDiseaseandtheOccipitalHornSyndrome
NinaHorn and Zeynep Tu¨mer 651
Contents vii
Chapter15 EpidermolysisBullosa
Leena Bruckner-Tuderman 687
Chapter16 ProlidaseDeficiency
Peter M. Royce and Beat Steinmann 727
Chapter17 α -AntitrypsinDeficiency
1
Diane WilsonCox 745
Chapter18 Heritable Forms of Ricketsand Osteomalacia
Michael P. Whyte 765
Chapter19 Osteopetrosis
Michael P. Whyte 789
Chapter20 Alkaptonuria
Bert N. La Du 809
Chapter21 FibrodysplasiaOssificansProgressiva
FrederickS.Kaplan,EileenM.ShoreandJ.Michael
Connor 827
Chapter22 Disordersof Lysosomal Enzymes
PartI General Considerations
Ulrich N. Wiesmann 841
PartII Clinical Phenotypes
JulesG. Leroy 849
Chapter23 Skeletal Dysplasias
PartI Chondrodysplasias:General Conceptsand
Diagnosticand Management Considerations
WilliamA. Hortonand JacquelineT. Hecht 901
PartII Chondrodysplasias: Disorders of Cartilage Matrix
Proteins
WilliamA. Hortonand JacquelineT. Hecht 909
PartIII Skeletal Dysplasias Related to Defects in Sulfate
Metabolism
AndreaSuperti-Furga 939
PartIV Craniosynostosis Syndromes and Skeletal Dys-
plasias Caused by Mutations in Fibroblast Growth
Factor ReceptorGenes
Clair A. Francomano and Maximilian Muenke 961
viii Contents
PartV Defects in Skeletal Morphogenesis
Stefan Mundlosand BjornR. Olsen 993
Chapter24 Disordersof Keratinization
Meral J. Arin,Daniel Hohl,and DennisR. Roop 1025
Chapter25 AlportSyndrome
Karl Tryggvason and Paula Martin 1069
Chapter26 MiscellaneousDisorders
PartI Corneal Dystrophies Due to Mutations in the
Kerato-EpithelinGene (βig-h3)
Joel Rosenbloom 1103
PartII Progressive PseudorheumatoidDysplasia
Wafaa M. Suwairi and Matthew L. Warman 1107
PartIII TheCamptodactyly-Arthropathy-Coxa
Vara-PericarditisSyndrome
Wafaa M. Suwairi and Matthew L. Warman 1111
PartIV Bruck Syndrome
Beat Steinmann and Peter M. Royce 1115
PartV Osteoporosis-PseudogliomaSyndrome
Beat Steinmann and Peter M. Royce 1119
PartVI MyopathiesDue to Defects in Collagen VI
Beat Steinmann and Peter M. Royce 1123
PartVII KnoblochSyndrome
Beat Steinmann and Peter M. Royce 1129
AppendixI InternationalNomenclature ofConstitutional
Disordersof Bone: Osteochondrodysplasias 1131
AppendixII Extracellular Collagen Metabolitesin BodyFluids
Leila Risteli and JuhaRisteli 1141
Index 1161
Preface
Weweregratifiedbythereceptionaccordedthefirsteditionofthisbook,anddelighted
thatitshouldhavebeenfoundusefulbysomany.Nevertheless,giventhepassageoftime
andtheintensityofadvancesinthefielditwasboundtobecomeoutdatedsoonerorlater,
andthe need fora second editionbecame clearsome timeago.With theencouragement
ofourcolleagues,whichweshould,perhaps,haveresistedhadweappreciatedatthetime
that to produce a second edition involved no less effort than to produce a first, and the
supportofJohnWiley&Sons,weembarkeduponourplanningforthisneweditionsome
four years ago. Given the developments that occur almost weekly in some area or other
ofconnectivetissueresearchthereisno‘‘perfectmoment’’atwhichtoproduceavolume
of the scope of this, but we have striven to ensure that it is as up to date as possible by
givingallcontributorstheopportunitytoaddasection,‘‘RecentDevelopments,’’totheir
respectivechaptersattheproofsstagetotakeaccountofthemostrecentlymadeavailable
informationonlyshortlybeforepublication.
The structure of the first edition is maintained in the second, although the content
has considerably expanded. Part One, ‘‘Biology of Extracellular Matrix,’’ addresses the
morphological, physiological, and molecular biological aspects of the connective tissues
andtheirconstituentsundernormalconditions,whileinPartTwo,‘‘HeritableDisorders
ofConnectiveTissue,’’specific disorders, orgroupsofdisorders, areextensively covered
indedicatedchapters.Anumberofdisordershavebeenaddedtothoseconsideredinthe
firstedition,someofthelesscommonoronlyrecentlydefinedofwhichareincludedinan
additionalchapter,‘‘MiscellaneousDisorders,’’towardstheendofthebook.Inallcases,
all aspects of each disorder, whether scientific or clinical, are described in detail, and it
ishoped thatthe reviews willprove useful to bothresearchers and medical practitioners
alike.AnewAppendixincludesachapteroncollagenmetabolitesinbodyfluids,thisbeing
occasioned by the commercial availability of kits that may be diagnostically useful that
werenotonthemarketatthetimeofthefirstedition.Finally,wehavebeenpleasedtobe
abletoaddthereminiscencesofKarlPiezinthecollagenareatothoseofVictorMcKusick
as they relate to heritable connective tissue disorders. These two contributions not only
makepleasantreadinginthemselves,butalsohelptoprovideacontextualfoundationfor
thechaptersthatfollow,andservetoemphasisehowsignificanttheprogressthathasbeen
madesubsequentlyinarelativelyshortspaceoftime.
We would close by thanking all the contributors and expressing our hope that this
secondeditionwillnotbefoundwanting.
PeterRoyce
BeatSteinmann
January2002
ix