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January 1993

Neurofibromatosis: Phenotype, Natural History, and Pathogenesis

Author Affiliations

Chicago, Ill

Arch Dermatol. 1993;129(1):119. doi:10.1001/archderm.1993.01680220135033

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


The second edition of this book attempts to update our understanding of neurofibromatosis. This book represents the perspective and study of Dr Riccardi, who has extensively observed patients with neurofibromatosis. Dr Riccardi organizes his discussion of the manifestations of neurofibromatosis by organ systems. He begins with an extensive and thorough discussion of the skin changes of patients with neurofibromatosis, a chapter that provides a comprehensive review for the dermatologist. The ensuing chapters review other affected organs, eg, nervous system, eye, skeletal system, and psychiatric and emotional disturbances. The chapter about forms of neurofibromatosis that Dr Riccardi classifies as "non—von Recklinghausen [neurofibromatosis]" provides the reader with tremendous insight about neurofibromatosis 2 and rare variants that have received little attention in the literature.

The chapters are peppered with anecdotal cases, each with a teaching point. This case-oriented approach to education about neurofibromatosis is much more effective than merely enumerating facts and highlights

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