Lymphedema

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 7 covers Cholestasis-Lymphedema Syndrome, Distichiasis and Lymphedema, and Hereditary Lymphedema. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Urticaria

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Hereditary Angioedema ◽  
Urticaria Pigmentosa ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Cold Urticaria ◽  
Basic Defect ◽  
Wells Syndrome ◽  
Mode Of Inheritance

Chapter 8 covers Familial Cold Urticaria, Hereditary Angioedema, Melkersson-Rosenthal Syndrome, Muckle-Wells Syndrome, NOMID/CINCA, and Urticaria Pigmentosa. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Disorders of Subcutaneous Tissue

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Subcutaneous Tissue ◽  
Cerebrotendinous Xanthomatosis ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Partial Lipodystrophy ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 6 covers Cerebrotendinous Xanthomatosis, Familial Multiple Lipomatosis, Familial Symmetric Lipomatosis, Fibrodysplasia Ossificans Progressiva, Lipogranulomatosis, Partial Lipodystrophy, and Berardinelli-Seip Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Other Disorders

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 9 covers Congenital Erosive and Vesicular Dermatosis, Erythermalgia, Michelin Tire Baby, and Stiff Skin. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Premature Aging

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Werner Syndrome ◽  
Cockayne Syndrome ◽  
Premature Aging ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Basic Defect ◽  
Mode Of Inheritance

Chapter 12 covers Cockayne Syndrome, De Barsy Syndrome, Hallermann-Streiff Syndrome, Hutchinson-Gilford Progeria, and Werner Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Photosensitivity

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Xeroderma Pigmentosum ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Polymorphous Light Eruption ◽  
Kindler Syndrome ◽  
Rothmund Thomson Syndrome ◽  
Hartnup Disorder ◽  
Mode Of Inheritance

Chapter 13 covers Bloom Syndrome, Hartnup Disorder, Kindler Syndrome, Polymorphous Light Eruption, Rothmund-Thomson Syndrome, and Xeroderma Pigmentosum. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Immune Deficiency Diseases

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Immune Deficiency ◽  
Differential Diagnosis ◽  
Granulomatous Disease ◽  
Associated Anomalies ◽  
Treatment Mode ◽  
Mucocutaneous Candidiasis ◽  
Griscelli Syndrome ◽  
Deficiency Diseases ◽  
Job Syndrome ◽  
Mode Of Inheritance

Chapter 14 covers Chediak-Higashi Disease, Chronic Granulomatous Disease, Epidermodysplasia Verruciformis, Familial Mucocutaneous Candidiasis, Griscelli Syndrome Types 1, 2, and 3, Job Syndrome, Mucoepithelial Dysplasia, and Wiskott-Aldrich Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Genetic Skin Disorders

2012 ◽  
Author(s):  
Virginia Sybert
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Genetic Disorder ◽  
Recurrence Risk ◽  
Treatment Mode ◽  
Comprehensive Survey ◽  
Practical Tool ◽  
Molecular Information ◽  
Information Treatment ◽  
Mode Of Inheritance

This lavishly-illustrated resource represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, containing sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.

Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome

2008 ◽  
Vol 28 (4) ◽  
pp. 343-346 ◽  
Author(s):  
M. J. Canto ◽  
S. Cano ◽  
J. Palau ◽  
F. Ojeda
Keyword(s):  
Prenatal Diagnosis ◽  
Low Risk ◽  
Associated Anomalies ◽  
Term Outcome ◽  
Risk Population ◽  
Long Term Outcome

scholarly journals OP32.09: Prenatal diagnosis of ductus venosus agenesis: anatomic variants, associated anomalies and impact on the postnatal course

2014 ◽  
Vol 44 (S1) ◽  
pp. 141-142
Author(s):  
A. Zamprakou ◽  
A. Geipel ◽  
U. Gembruch ◽  
B.S. Strizek ◽  
I. Gottschalk ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ductus Venosus ◽  
Associated Anomalies ◽  
Anatomic Variants

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

Sign in / Sign up

Export Citation Format

Share Document