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Study Investigates Syndrome Akin to Neurofibromatosis

-- Eric Metcalf

Tuesday, November 17, 2009

TUESDAY, Nov. 17 (HealthDay News) -- A condition recently named Legius syndrome -- associated with SPRED1 mutations -- may be difficult to differentiate from neurofibromatosis type 1 based on dermatologic findings, according to research published in the Nov. 18 issue of the Journal of the American Medical Association.

Ludwine Messiaen, Ph.D., of the University of Alabama in Birmingham, and colleagues analyzed data from a clinical cohort of NF1-negative individuals with SPRED1 mutations and their family members, as well as a group of 1,318 individuals with signs of neurofibromatosis type 1 but no detectable NF1 mutation.

In the first group, of 42 SPRED1-positive subjects, the researchers found that 20 met diagnostic criteria for neurofibromatosis type 1 based on café au lait macules or family history. None had neurofibromas, typical bone lesions, or symptomatic optic pathway gliomas, however. In the larger group, 34 probands had different SPRED1 mutations, and 31 of these subjects had more than five café au lait macules.

"We currently are conservative regarding the clinical surveillance of SPRED1-positive patients and recommend the same medical follow-up as that for patients with NF1. Less stringent surveillance may possibly be recommended for these patients if clinical data from several hundreds of patients confirm the low frequency of benign and malignant tumors," the authors conclude. "It is important that clinicians who are involved in the care, diagnosis, and treatment of individuals with NF1, should be aware that Legius syndrome can resemble NF1."

A co-author is an employee of MRC-Holland.

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Specialties Cardiology
Diabetes & Endocrinology
Internal Medicine
Family Practice

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