The second edition of Neurofibromatosis: A Handbook for Patients, Families and Health Care Professionals is much better than a simple handbook. Korf and Rubenstein have expertly woven patient viewpoints and medical concerns related to the combined and distinctive issues of neurofibromatosis (NF) (NF1, NF2, and schwannomatosis) into an outstanding perspective on these genetic conditions.
The introduction and background provide a concise historical perspective, adeptly distinguishing between the forms of NF, and they give a human touch in the section devoted to personal perspectives. These perspectives are carried throughout 12 of 15 chapters and provide a unique approach to the integration of personal issues by way of individual sketches that are initially provided in chapter 2, which is entitled “The Many Faces of NF.”
The “Pathogenesis” and “Genetics and Genetic Counseling” chapters are appropriate for the target audience and cover the salient issues of autosomal dominant conditions with variable clinical expressivity. A few complex issues related to general principles of genetics that are exemplified in NF are explained particularly well—including disease versus disorder, sporadic versus familial cases, mosaicism, and genetic testing.
Of the 150 pages devoted to clinical care issues related to the NFs, two-thirds are devoted to NF1 in five chapters: “Diagnosis and Management,” “Neurofibromas and Malignant Peripheral Nerve Sheath Tumors (MPNSTs),” “Other Tumors and Abnormalities,” “Learning Problems,” and “Other Seemingly Unrelated Manifestations Associated with This Condition.” Management options are well stated and are provided in an unbiased and direct manner. The emphasis on bone issues in NF1 is welcome, whereas the MPNST perspective may be a bit shortchanged, given the significant morbidity and mortality now recognized with this manifestation.
The two chapters devoted to NF2 cover the condition with the right level of perspective. Even though the condition is quite rare, a chapter on schwannomatosis is appropriate because it delineates a distinctive condition associated with MPNSTs that is sometimes confused with both NF1 and NF2.
The last three chapters on psychosocial impact are terrific additions to the NF literature; they provide perspectives on quality of life and research on living with a genetic condition. Like the first four chapters, these common themes of the NFs are explored with the appropriate lumping and splitting as specified by the respective concern.
In summary, this book accomplishes its primary aim: to provide patients and families with a treatise that goes beyond the multitude of brochures and informational Web pages. It is well written, with selectively appropriate citations and references that are up to date. It will uniquely serve the patients, and it provides a terrific reference for those who seek information as their initial exposure to any of the NF conditions. It serves as an outstanding example of textbook information that patient support organizations should emulate as a service to their respective constituencies.