SKIBO-Diseases Disorders Affecting the Skin and Bones: A Clinical, Dermatologic, and Radiologic Synopsis

214 Pages·1999·11.55 MB·English

by  Prof. Dr. med. Jürgen Freyschmidt

J. Freyschmidt . G. Freyschmidt
SKIBO-Diseases - Disorders Affecting the Skin and Bones
Springer
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J. Freyschmidt . G. Freyschmidt
SKIBO-Diseases
Disorders Affecting
the Skin and Bones
A Clinical, Dermatologic, and Radiologic Synopsis
With 57 Figures in 236 Separate Illustrations, Some in Color
and 10 Tables
, Springer
Prof. Dr. med. Jiirgen Freyschmidt
Radiologische Klinik, Zentralkrankenhaus
St. Jiirgen-Strasse, 28205 Bremen, Germany
Dr. med. Gisela Freyschmidt
Oberneulander Landstrasse 58,28355 Bremen, Germany
Translator: Terry C. Telger, 6112 Waco Way, Forth Worth TX 76133, USA
Title of the original German edition:
Haut-, Schleimhaut- und Skeletterkrankungen - SKIBO-Diseases
© Springer-Verlag Berlin Heidelberg 1996. ISBN-13: 978-3-642-64159-6
TSBN-13 978-3-642-64159-6 e-TSBN-13: 978-3-642-59867-8
DOl: 10.1007/978-3-642-59867-8
Library of Congress Cataloging-in-Publication Data
Freyschmidt,J. (Jiirgen) [Haut-, Schleimhaut -und Skeletterkrankungen. English] SKIBO
diseases: disorders affecting the skin and bones: a clinical, dermatologic, and radiologic
synopsis / J. Freyschmidt, G. Freyschmidt. p. cm. Includes bibliographical references and
index.
1. Cutaneous manifestations of general diseases. 2. Musculoskeletal system -Diseases -
Diagnosis. 3. Skin -Radiography. 4. Diagnosis, Radioscopic. I. Freyschmidt, G. (Gisela)
II. Freyschmidt, J. (Jiirgen) Haut-, Schleimhaut- und Skeletterkrankungen. English.
III. Title. [DNML: 1. Skin Manifestations. 2. Skin Diseases -diagnosis. 3. Bone Diseases -diag
nosis.4.Diagnosis,DifferentiaI.WR 143 F894h 1998a] RLlOO.F74 1998 616.5-dc21
DNML/DLC 98-10617
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For Carla
Preface
With the growing, necessary trend toward specialization in medicine, there
is an increased likelihood that multisystem diseases with "interdiscipli
nary" features will be misclassified and misdiagnosed. Given the general
ly low prevalence of these diseases, at least for the present, even "general
ists" cannot be expected to have the expertise to include such rare disor
ders in their primary differential diagnosis. But it is equally true that all
patients have a right to an accurate diagnosis established by scientific and
empirical means, regardless of whether a correct diagnosis will have dif
ferent therapeutic implications than an incorrect one. Moreover, there are
many rare congenital syndromes that, once recognized, should prompt a
referral for genetic counseling.
Many of the diseases described in this monograph were correctly classi
fied only because the authors, a long-married couple, were able to com
pare notes on unidentified, multisymptomatic disorders they saw in the
hospital and office settings and pool the knowledge from their respective
fields (dermatology and diagnostic radiology). The result of this collabo
rative effort is a practice-oriented monograph that will motivate diagnos
ing physicians to think of multisystem illnesses involving the skin, mucous
membranes, and bones ("SKIBO" diseases) and render a specific diagno
sis by interpreting the protean features of these diseases from a synoptic
perspective. The critical step in making a correct diagnosis is to look
specifically for symptoms that belong to another discipline (dermatology,
orthopedics, internal medicine, radiology). Rather than try to interpret
these changes "single handed;' we hope that, with the help of this book,
physicians will be able to suspect a SKIBO disease and recognize the need
to seek proper specialist consultation in order to establish a diagnosis.
We thank Dr. Zimmermann-Schroder for her great help in procuring the
dermatologic illustrations, many of which are from the collection of the
Department of Dermatology (Director: Friedrich A. Bahmer, M. D., Ph. D.)
of the Zentralkrankenhaus St. Juergen Strasse in Bremen.
Bremen, spring, 1998 The Authors
Contents
Introduction . . . . . . . . . . .
Tables of Differential Diagnoses. 2
1 Congenital Disorders 1 and Developmental Anomalies 13
1.1 Nail-Patella Syndrome ............... . 13
1.2 Enchondromatosis with Cavernous Hemangiomas
(e.g., Maffucci's Syndrome). . . . . . . . . . . . . . 15
1.3 Fibroosseous Lesions with Cafe-au-Iait Spots . . . 18
1.3.1 Fibrous Metaphyseal Defects with Cafe-au-Iait Spots
(Jaffe-Campanacci Syndrome). 18
1.3.2 Fibrous Dysplasia. . . . . 20
1.4 Neurofibromatosis Type 1 20
1.5 Tuberous Sclerosis . . . . 24
1.6 Osteopoikilosis with Dermatofibrosis Lenticularis
Disseminata and Other Cutaneous Lesions. . . . . 27
1.7 Osteopathia Striata and Other Skeletal Malformations
with Focal Cutaneous Hypoplasia or Cutaneous Atrophy
(e.g., Goltz-Gorlin Syndrome) . . . . . . . . . . . . 29
1.8 Melorheostosis with Circumscribed Scleroderma . 32
1.9 Gardner's Syndrome . . . . . 36
1.1 0 Cronkhite-Canada Syndrome . . . . . . . . . . . . 38
1.11 Proteus Syndrome. . . . . . . . . . . . . . . . . . . 38
1.12 Basal Cell Nevus Syndrome (Godin-Goltz Syndrome). 39
1.13 Ichthyosis with Chondrodysplasia Punctata
(Conradi-Hiinermann Syndrome, Happle's Syndrome) . 42
1.14 Congenital Ichthyosiform Erythroderma
with Acro-osteolysis . . . . . . . . . . . . . . . . . . . . 43
1.15 Refsum's Syndrome. . . . . . . . . . . . . . . . . . . . . 43
1.16 Hereditary Palmoplantar Keratosis with Drumstick Fingers
and Bony Hypertrophy. . . . . . . . . . . . . . . . . . . . 44
1.17 Mutilating Palmoplantar Keratoderma . . . . . . . . . . . 47
1.18 Epidermolysis Bullosa Dystrophica with Acro-osteolysis . 49
1.19 Rothmund-Thomson Syndrome. . . . . . . . . . . . . . . 50
1 Strictly speaking, the congenital disorders include some diseases and syndromes
(e.g., pachydermoperiostosis and angiodysplasias) that are classified differently
because of their dominant clinical and radiologic features.
X Contents
1.20 Werner's Syndrome. ..................... 51
1.21 Ehlers-Danlos Syndrome ................... 52
1.22 Metaphyseal Chondrodysplasia with Complete Alopecia . 54
1.23 Satoyoshi's Syndrome. 54
1.24 Gaucher's Disease. . . . . . . . 55
.........
1.25 Fabry's Disease 57
1.26 Congenital Copper Deficiency. 59
2 Collagen Diseases . . . . . . . . . . . 61
2.1 Progressive Systemic Sclerosis (PSS) 62
2.2 Systemic Lupus Erythematosus (SLE). 68
2.3 Polymyositis and Dermatomyositis . 70
2.4 Sjogren's Syndrome. . . . . . . . 72
2.5 Jo-1 (Antisynthetase) Syndrome ... 72
2.6 Sharp's Syndrome. . . . . . . . . . . 74
2.7 Undifferentiated Inflammatory Systemic Connective
Tissue Disease. . . . . . . . . . . . . . . . . . . . . . . 75
3 Rheumatic Disorders . 77
3.1 Rheumatoid Arthritis. . 77
3.2 Fibroblastic Rheumatism. 77
3.3 Gouty Arthritis . . . . . . 78
3.4 Hemochromatosis ..... 82
3.5 Relapsing Polychondritis (RP) . 85
3.6 Seronegative Spondyloarthropathies 87
3.6.1 Ankylosing Spondylitis (AS) ..... 89
3.6.2 Psoriatic Spondylarthritis and Psoriatic Arthritis . 94
3.6.3 Pustulotic Arthro-osteitis (PAO) ........... 101
3.6.4 Reiter's Syndrome and Other Forms of Reactive Arthritis llO
3.6.5 Oligoarticular Juvenile Rheumatoid Arthritis (Type II) . ll6
3.6.6 Enterospondylarthritis
(Crohn's Disease, Ulcerative Colitis, etc.) . ll6
3.6.7 Undifferentiated Spondyloarthropathy . 120
3.7 Other Forms of Reactive Arthritis. 121
3.7.1 Lyme Arthritis. . . 121
3.7.2 Rheumatic Fever 124
3.8 Beh.,-:et's Syndrome 126
3.9 Acne-Associated Skeletal Changes. 127
4 Infectious Diseases 131
4.1 Leprosy ..... 131
4.2 Syphilis ..... 135
4.3 Actinomycosis. 138
4.4 Mycetoma ... 140
4.5 Bacillary (Epitheloid) Angiomatosis in AIDS 141
Contents XI
5 Neoplastic and Granulomatous Diseases. 143
5.1 Lymphoma ....... 143
5.2 Mycosis Fungoides . . . 143
5.3 POEMS Plasmacytoma. 145
5.4 Langerhans Cell Histiocytosis . 148
5.4.1 Abt-Letterer-Siwe Syndrome .. 149
5.4.2 Eosinophilic Granuloma . . . . 150
5.4.3 Hand-Schuller-Christian Syndrome 152
5.5 Multicentric Reticulohistiocytosis (MR) 153
5.6 Sarcoidosis. . 155
5.7 Mastocytosis. . . . . . . . . . . . . . . . 162
6 Angiodysplastic Skin Lesions and Skeletal Changes . 167
6.1 Congenital Angiodysplasias 167
6.1.1 Weber Type ....... 168
6.1.2 Klippel-Trenaunay Type . . 170
6.1.3 Servelle-Martorell Type .. 172
6.1.4 Stewart -Bluefarb Syndrome 175
6.2 Acquired Angiodysplasias . 175
6.2.1 Hemangioma with Osteomalacia 177
6.2.2 Glomus Tumors . . . . . . . . . . 178
7 Periostoses . . . . . . . 179
7.1 Pachydermoperiostosis. 181
7.2 EMO Syndrome ..... 183
7.3 Hypertrophic Osteoarthropathy. 185
7.4 Periosteal Ossification in Varicose Symptom Complex 188
7.5 Scurvy .......................... . 189
8 Other Diseases .......................... 191
8.1 Nonsystemic Trophic Disorders of the Hands
and Feet with Acro-osteolysis . 191
8.2 Sudeck's Syndrome . . . . . . . 192
8.3 Lipoatrophic Diabetes Mellitus 194
8.4 Pancreatitic Bone Lesions . . . 198
8.5 Interstitial Calcinosis. . . . . . 200
8.6 Chromium and Nickel Allergy
Due to Internal Fixation Material . 202
Subject Index ........................... 203
Introduction
The etiology and pathogenesis of diseases that to devote a whole chapter to similar disorders,
show synchronous or metachronous involve but the authors of this book do not have the req
ment of the skin, mucous membranes, and bones uisite expertise. Moreover, discoveries in molec
are well known in the case of some entities but ular biology and other fields are progressing so
are poorly understood in others. For example, in swiftly that any information and hypotheses of
patients with mucosal inflammations due to im fered today may be outdated by the time the book
munvasculitis, symptoms will appear concomi is published. Instead, this monograph will focus
tantly or sequentially in anatomic regions with on established clinical and radiologic features
mucosal structures, involving for example the that can lead to a diagnosis and, in the case of the
eyes, mouth, gastrointestinal tract, pleura, or the foregoing group of syndromes, should be
large and small joints of the axial and appendic learned even if their pathogenesis is not fully
ular skeleton. While we know that the symptoms understood.
(e.g., conjunctivitis, diarrhea, joint swelling with This book employs conventional nosologic and
limited motion) are based on the location of the pathogenic classifications. The introductory ta
inflamed mucosae, we do not yet know the prin bles list the dermatologic, clinical, and radiolog
ciples that govern the timing of involvement of ic features that are essential in making an accu
different organ systems in certain diseases. rate differential diagnosis.
A pattern of errors or defects simultaneously in
volving various known genes or gene locations When is it worthwhile to consult this book?
gives rise to even more complex disorders with In cases where skeletal radiographs reveal pre
diverse symptoms that are not referable to a dominantly localized or generalized changes
particular anatomic structure. An example is that have a discernible pathoanatomic pattern
Gardner's syndrome. (e.g., destructive changes vs. sclerosis or new
Less is known about genetic syndromes that bone formation) but defy nosologic classifica
have not been adequately researched and are as tion, the physician should first inspect the dis
sociated, perhaps randomly, with a combination robed patient externally and look for any muco
of cutaneous and skeletal manifestations such as cutaneous lesions that would suggest a prelimi
cafe-au-lait spots and nonossifying fibromas of nary classification. Then, aided by this mono
bone or fibrous dysplasia. graph, the examiner should try to relate the le
Today for many disorders it is only speculated sions to a specific disorder, provided the patient
that they are caused by previously unknown ge actually has a bi-, oligo- or multisymptomatic
netic alterations that induce specific biochemical process involving the skin, mucous membranes,
abnormalities in common basic structures of the and bones. Of course, the preliminary derma to
skin and bone (i.e. collagen). Meanwhile there logic diagnosis will require confirmation by a
is hard scientific evidence that the proteoglycan specialist in dermatology.
loss is a common pathogenic principle for psor Conversely, when predominantly cutaneous
iatic arthritis and psoriatic spondylarthritis as lesions are seen in a patient who additionally
well as for the mucocutaneous manifestations of complains of general musculoskeletal or rheu
psoriasis-associated musculoskeletal disorders matoid symptoms, the physician should con
that are genetically transmitted among others sider whether an association may exist with the
via the HLA-B27 locus. It would be fascinating presenting skin lesions. A good example of this