November 18, 2009

Pigmentary Findings in Neurofibromatosis Type 1–like Syndrome (Legius Syndrome)Potential Diagnostic Dilemmas

Author Affiliations

Author Affiliations: Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City.

JAMA. 2009;302(19):2150-2151. doi:10.1001/jama.2009.1690

The study by Messiaen and colleagues1 in this issue of JAMA provides a significant advance in understanding the clinical presentation and genetic spectrum of individuals with SPRED1 mutations that alter sprouty-related EVH1 domain–containing protein 1 function. It is clearly a vanguard report for understanding neurofibromatosis type 1 (NF1)–like syndrome, recently designated Legius syndrome.2 Legius syndrome is deemed a more appropriate term to avoid confusion in counseling families regarding anticipatory guidance. The term NF1-like syndrome implies overlap with myriad medical complications associated with NF1, which this report demonstrates is not the case. The few reports of individuals with loss-of-function SPRED1 mutations have shown that the primary phenotype of Legius syndrome is café au lait macules, sometimes associated with axillary freckling, inguinal freckling, or both.35 Messiaen et al1 provide supportive information on the phenotype of Legius syndrome with an increased number of individuals, document the lack of a specific genotype-phenotype correlation, and clarify the clinical overlap with NF1.

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