Clinical, Biochemical, Pathogenic and Diagnostic Assessment
Author(s): Elias P.M. (San Francisco, Calif.)
Williams M.L. (San Francisco, Calif.)
Crumrine D. (San Francisco, Calif.)
Schmuth M. (Innsbruck)
Publication year: 2010
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Current Problems in Dermatology , Vol. 39
Editor(s): Itin P. (Basel)
Jemec G.B.E. (Roskilde)
X + 144 p., 89 fig., 15 in color, 9 tab., hard cover, 2010
The authors’ overview reflects their unique perspective that the clinical phenotype in the inherited ichthyoses mirrors a ‘best attempt’ by a metabolically compromised epidermis to maintain a barrier sufficiently impermeable for survival in a desiccating external environment.
The basis for threats to survival is illuminated, and the systemic problems, including growth failure, also reflect a compromised barrier. A new consensus classification of these disorders is provided, and the distinguishing clinical features of each disorder are described. Further, the latest molecular genetic information is succinctly reviewed with up-to-date and comprehensive references. Yet, the major emphases of this volume are on disease pathogenesis and on the identification of key ultrastructural features.
This publication will prove an invaluable aid to dermatologists, pediatric dermatologists and pediatricians dealing with patients with inherited ichthyoses. In addition, clinical geneticists and dermatopathologists will find it interesting reading.