Acta Dermatovenerol Croat 2008;16(1):45 BOOK REVIEW

Joel L. Spitz, editor. Genodermatoses. A Clinical Guide to Genetic Skin Disorders.

Philadelphia, Baltimore, New York: Lippincott Williams & Wilkins, 2005. Format: hard cover, one volume. Second edition. Pages 400, chapters 13. ISBN 0-7817-4088-6.

Although dermatologists frequently deal with is that it should alert clinicians seeing infants with genodermatoses in practice, this is one of the large segmental facial hemangiomas to be aware rare books in which this complex matter has been of the potential structural anomalies of the heart, adjusted for use in daily routine. In the last de- eyes, central nervous system and arterial vascu- cades, considerable progress has been made in lature. The fourth chapter of the book is dedicated the field of genetics and in the understanding of to connective tissue disorders. Genodermatoses genetically determined disorders. The editor of the with malignant potential, i.e. basal cell book gathered 12 authors, while Vaune J. Hatch syndrome, xeroderma pigmentosum, Muir-Torre made a great job by in enriching the contents of syndrome, dyskeratosis congenita, Peutz-Jegh- the book with more than 300 full-color illustrations. ers syndrome, , Gardner syn- Each syndrome is described on one to two pages. drome, multiple endocrine neoplasia type IIb and When there are synonyms, they are listed at the new Birt-Hogg-Dube syndrome, are presented in a beginning. Bulleted text summarizes the patterns separate chapter. It is followed by description of a of inheritance, prenatal diagnosis, incidence, age group of epidermolyses and porphyrin metabolism of presentation, pathogenesis, key features, dif- disorders, a group of genodermatoses associated ferential diagnosis, laboratory data, management with photosensitivity, and disorders associated and prognosis. Boxed features highlight clinical with immunodeficiency. In the chapter on hair and pearls and breadth to the material. Full body dia- nail disorders, two new syndromes are described: grams and clinical photographs of each syndrome EEC (Ectrodactyly-Ectodermal Dysplasia-Cleft are included. At the end of each chapter, additional lip/palate syndrome) and AEC (Ankyloblepharon reading is suggested. In the first chapter, the dis- filiforme adenatum-Ectodermal Cleft palate syn- orders of cornification are described. Description drome). In chapter 12, the following disorders of Mal de Meleda is found in this chapter. In chap- associated with chromosomal abnormalities are ter two, disorders of pigmentation are described, presented: Down syndrome, Turner syndrome, i.e. oculocutaneous albinism types I and II, then and Klinefelter syndrome. The Hermansky-Pudlak syndrome, Chediak-Higashi book ends with a chapter on genodermatoses syndrome, Griscelli syndrome, Waardenburg syn- characterized by short stature, followed by highly drome, piebaldism, , LEOP- useful lists of support groups, institutions and lab- ARD syndrome, Carney complex, neurofibroma- oratories all over the world specialized in the study tosis I and II, McCune-Albright syndrome and and management of particular genodermatoses. . In chapter three, among disor- This book is specially designed for dermatolo- ders of vascularization, description is included of gists, pediatricians and family doctors as a guide the new PHACE syndrome (Posterior fossa brain to genetic skin disorders and an ideal resource for malformations, large facial Hemangioma, Arterial clinical practice. anomalies, Cardiac anomalies and aortic coarc- tation, Eye abnormalities, sternal clefting and/or Aida Pašić, MD, PhD supraumbilical raphe). The importance of PHACE

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