عنوان

Ichthyoses :

3642736521

9783642736520

b541118

Ichthyoses :

[Book]

a guide to clinical diagnosis, genetic counseling, and therapy.

Heiko Traupe

[Place of publication not identified]

Springer

2013

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 Sjoegren-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 Comel-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 Comel-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.

Heiko Traupe

Heiko Traupe

[Book]

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