Columbus, OH - March 2016
Neurocutaneous syndromes -- the group of neurologic disorders that have associated lesions in the skin and eyes and can cause tumors in the nervous and other body systems -- have been the subject of much genetic and pathophysiologic research over the last decade. A new book edited by two neurologists at Nationwide Children’s Hospital highlights the insights from that research and shows that “classic doctoring” still has a big role to play in diagnosis and treatment.
“With some of these syndromes, you can see something that is visible on the skin and know what it implies for the brain or other organs, particularly if you know certain other symptoms that the patient has experienced,” says Monica P. Islam, MD, lead editor and neurologist at Nationwide Children’s.
Drs. Islam and Roach are the editors of Neurocutaneous Syndromes, volume 132 of the venerable Handbook of Clinical Neurologyseries published by Elsevier. It provides a comprehensive look at the disorders and serves as a reference for clinicians and researchers.
The overall category of neurocutaneous syndromes may seem obsolete to some, as genetic and pathophysiological discoveries have served to differentiate the disorders in a way that was impossible before, the editors write in their preface. But the visible manifestations of these disorders are an important link between them and an important diagnostic tool.
“The physical examination is arguably more important than the DNA testing in tuberous sclerosis, for example,” says Dr. Roach, who is also professor of Pediatrics and Neurology at The Ohio State University College of Medicine. “For 12 to 15 percent of the people who meet the diagnostic criteria, the DNA testing is negative. The patient may have a mosaic form, so that all the cells do not have the mutation. The DNA test misses it.”
Drs. Roach and Islam are co-directors of the Tuberous Sclerosis Clinic at Nationwide Children's.
The new book is a kind of analogue of the “classic doctoring” approach to neurocutaneous syndromes. If you’re too reliant on technology to make a diagnosis, you may miss the association between a skin marking and neurologic disorder, says Dr. Islam, who is also an assistant professor of Clinical Pediatrics at OSU’s College of Medicine. In the same way, a doctor who is too reliant on online information may not have the knowledge to recognize a specific neurocutaneous condition.
“This is a compilation of possibilities,” says Dr. Roach of the volume. “For someone who wants to learn about these conditions, it’s in this one place.”
Drs. Roach and Islam coauthored chapters on tuberous sclerosis complex and pseudoxanthoma elasticum, and Dr. Islam is the sole author on a chapter about neurocutaneous melanosis. Nationwide Children’s neurologists Geoffrey Heyer, MD, Melissa Chung, MD, and Margie Ream, MD, contributed chapters on PHACE syndrome, hereditary hemorrhagic telangiectasia and hypomelanosis of Ito, respectively.
Islam MP, Roach ES. Neurocutaneous Syndromes. (Waltham, MA: Elsevier B.V., 2015) 344.