Heiko Traupe
Springer Berlin Heidelberg
0e druk, 2012
9783642736520
The Ichthyoses
A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy
Specificaties
Paperback, 253 blz.
|
Engels
Springer Berlin Heidelberg |
0e druk, 2012
ISBN13: 9783642736520
Rubricering
Verwachte levertijd ongeveer 9 werkdagen
Samenvatting
It is a great pleasure for me to see this work in print. As outlined by Dr. Traupe, at least 20 different types of ichthyosis have been identified to date. This book will effectively help to establish a correct diagnosis, as a basis for genetic counseling. Dr. Traupe proposes a new classification of the ichthyoses, based on reason able clinical criteria. He lets the reader share in his enormous knowledge and safely guides him through the difficult field of nomenclature. He describes the particular nature of these scaling disorders in a manner as simple as possible. During the last few years, research on ichthyosis has become a fascinating scientific challenge due to the introduction of novel investigative approaches. The main advantage of this book lies in the fact that the author successfully combines recent achievements made in lipid analysis, enzymology, electron microscopy, and molecular genetics. Heiko Traupe began his career in dermatology 11 years ago, as a resident in the Department of Dermatology in Munster. As we were both interested in the genetic aspects of skin diseases, this was the starting point of a most fruitful collaboration, which is still continuing. During our common work in Munster, Dr. Traupe was able, thanks to his unceasing clinical curiosity, to describe many novel aspects within the field of ichthyosis, and I took pride in coauthoring papers on new items such as cryptorchidism as a fea ture associated with X-linked recessive ichthyosis, autosomal dominant lamellar ichthyosis, and alopecia ichthyotica.
Specificaties
ISBN13:9783642736520
Taal:Engels
Bindwijze:paperback
Aantal pagina's:253
Uitgever:Springer Berlin Heidelberg
Druk:0
Inhoudsopgave
1 Introduction.- 1.1 Definition of the Term “Ichthyosis”.- 1.2 History of the Ichthyoses.- 1.3 New Classifieation and Tables for Differential Diagnosis of the Ichthyoses.- 1.4 Epidermal Lipids and the Bioehemistry of Keratinization.- 1.4.1 Introduction.- 1.4.2 Changes in Lipid Composition of Epidermal Layers during Keratinization.- 1.4.3 Organization and Metabolism of Epidermal Lipids.- 1.4.4 Epidermal Lipids and the Permeability Barrier.- 1.4.5 Effect of Retinoids on Epidermal Lipid Metabolism.- 1.4.6 Disorders of Comification Associated with Abnormalities in Epidermal Lipid Metabolism.- 1.4.7 Conclusion.- 2 Isolated Vulgar Ichthyoses.- 2.1 Autosomal Dominant Iehthyosis Vulgaris.- 2.1.1 Historieal Aspeets.- 2.1.2 Incidenee and Clinical Features.- 2.1.3 Histologie and Ultrastructural Features.- 2.1.4 Biochemical Aspects.- 2.1.5 Genetic Counseling.- 2.2 X-Linked Reeessive Iehthyosis.- 2.2.1 Historical Aspects.- 2.2.2 Incidence.- 2.2.3 Clinical Features.- 2.2.4 Histologie and Ultrastructural Features.- 2.2.5 Biochemistry.- 2.2.6 Genetics.- 2.2.7 Genetic Counseling.- 3 Associated Ichthyoses of the Vulgaris Type.- 3.1 Refsum’s Syndrome (Heredopathia Ataetiea Polyneuritiformis).- 3.1.1 Historieal Aspects.- 3.1.2 General Clinieal Features.- 3.1.3 Cutaneous Manifestations.- 3.1.4 Histologic and Ultrastruetural Findings.- 3.1.5 Bioehemieal Aspects.- 3.1.6 Therapy.- 3.1.7 Genetie Counseling.- 3.2 Assoeiated Steroid-Sulfatase Deficieney.- 3.2.1 X/Y Transloeations and Loss of Xp223-pter.- 3.2.2 XRI and Kallmann’s Syndrome.- 3.2.3 XRI and Hypertrophie Pylorie Stenosis: Possible Implications for the Carter Effect.- 3.2.4 Genetic Counseling.- 3.3 Iehthyosis and Hypogonadism: Reflections on the so-ealled Rud’s Syndrome.- 3.3.1 General Remarks.- 3.3.2 How a Syndrome was Made up.- 3.3.3 Current Coneepts: Evidence for Genetic Heterogeneity.- 3.4 Multiple Sulfatase Deficieney.- 3.4.1 Historieal Aspects.- 3.4.2 Clinical Features.- 3.4.3 Biochemical and Genetic Aspeets.- 3.4.4 Genetic Counseling.- 4 Isolated Congenital Ichthyoses.- 4.1 Harlequin Fetus.- 4.1.1 Historical Aspects.- 4.1.2 Clinical Features.- 4.1.3 Histologic Features.- 4.1.4 Biochemical Aspects.- 4.1.5 Genetic Counseling.- 4.2 The Lamellar Ichthyoses.- 4.2.1 Classification, History, and Remarks on Nomenclature.- 4.2.2 Autosomal Dominant Lamellar Iehthyosis.- 4.2.3 Heterogeneity of Autosomal Recessive Lamellar Ichthyosis.- 4.2.4 Genetic Counseling in Lamellar Ichthyosis.- 4.3 Alopecia Ichthyotica: A Characteristic Feature of many Types of Congenital Ichthyosis.- 4.4 The Epidermolytic (Aeanthokeratolytic) Ichthyoses.- 4.4.1 Classification.- 4.4.2 Bullous Ichthyotic Erythroderma of Brocq.- 4.4.3 Ichthyosis Bullosa of Siemens.- 4.4.4 Ichthyosis Hystrix of Curth and Macklin.- 4.4.5 Genetic Counseling of the Epidermolytic Ichthyoses.- 4.4.6 General Comments on Prenatal Diagnosis.- 5 Associated Congenital Ichthyoses.- 5.1 The Sjögren-Larsson Syndrome.- 5.1.1 Historical Aspects.- 5.1.2 Clinical Features.- 5.1.3 Histologic Features.- 5.1.4 Biochemical Aspects.- 5.1.5 Genetic Counseling.- 5.2 Ichthyosis and Triehothiodystrophy: the Tay and PIBI(D)S Syndromes.- 5.2.1 Historical Aspects and Classification.- 5.2.2 Clinical Features of the Tay Syndrome.- 5.2.3 Clinical Features of the PIBI(D)S Syndrome.- 5.2.4 Histologic Features of Tay and PIBI(D)S Syndromes.- 5.2.5 Biochemical Aspects.- 5.2.6 Genetic Aspects and Counseling.- 5.3 The Comèl-Netherton Syndrome.- 5.3.1 Historical Aspects.- 5.3.2 Clinical Features.- 5.3.3 Histologic and Ultrastructural Features.- 5.3.4 Pathogenesis of Triehorrhexis Invaginata.- 5.3.5 Biochemical Aspects.- 5.3.6 Remarks on Therapy.- 5.3.7 Genetic Aspects and Counseling.- 5.4 X-Linked Dominant Ichthyosis.- 5.4.1 Historical Aspects and Nomenclature.- 5.4.2 Clinical Features.- 5.4.3 Histologic and Ultrastructural Features.- 5.4.4 Homology in the Mouse.- 5.4.5 Genetic Counseling.- 6 Recently Recognized Ichthyoses.- 6.1 Dorfman’s Syndrome: Neutral Lipid Storage Disease with Ichthyotic Erythroderma.- 6.1.1 Historical Aspects.- 6.1.2 Clinical Features.- 6.1.3 Histologic and Ultrastructural Features of the Skin.- 6.1.4 Genetic Counseling.- 6.2 Hystrix-like Ichthyosis with Deafness: the HID Syndrome.- 6.2.1 Historical Aspects and Nomenclature.- 6.2.2 Clinical Features.- 6.2.3 Histologic and Ultrastructural Features.- 6.2.4 Differential Diagnosis.- 6.2.5 Genetic Counseling.- 6.3 Not an Ichthyosis at All: the Keratitis, Ichthyosis-like Hyperkeratosis, and Deafness (KID) Syndrome.- 6.3.1 Historical Aspects and Nomenclature.- 6.3.2 Clinical Features.- 6.3.3 Histologic Features.- 6.3.4 Treatment.- 6.3.5 Genetic Counseling.- 6.4 The Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome.- 6.4.1 Historical Aspects and Nomenclature.- 6.4.2 Clinical Features.- 6.4.3 Histologic Features.- 6.4.4 Genetic Counseling.- 6.4.5 Clues for Differential Diagnosis.- 6.5 Peeling-Skin Syndrome: Clinical and Morphological Evidence for Two Types.- 6.5.1 Historical Aspects.- 6.5.2 Peeling-Skin Syndrome, Type A.- 6.5.3 Peeling-Skin Syndrome, Type B.- 6.5.4 Is Peeling-Skin Syndrome, Type B, Identical to the Comèl-Netherton Syndrome?.- 6.6 Autosomal Dominant Congenital Ichthyosis and Keratoderma Hereditaria Mutilans of Vohwinkel.- 6.7 Congenital Migratory Ichthyosis with Neurologic and Ophthalmologic Abnormalities.- 6.8 Ichthyoses of Uncertain Status.- 6.8.1 Unestablished Ichthyoses with Bone Disease.- 6.8.2 Unestablished Ichthyoses in Association with Alopecia or Hair Shaft Abnormalities.- 6.8.3 Unestablished Ichthyoses with Neurologic Involvement.- 6.8.4 Unestablished Ichthyoses and Renal Impairment.- 6.8.5 Miseellaneous.- 7 Therapy.- 7.1 Topical Therapy.- 7.1.1 Introduction.- 7.1.2 Salicylic Acid: a Drug I Do not Use.- 7:1.3 Commonly Used Active Substances: Sodium Chloride, Urea, Lactic Acid, and Propylene Glycol.- 7.1.4 Therapeutic Pitfalls in the Management of Children.- 7.2 Systemic Therapy.- 7.2.1 Retinoids.- 7.2.2 Other Systemie Treatment Modalities.- 8 Subject Index.