The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.
Neurofibromatosis type 1 is diagnosed clinically based on the presence of two of seven criteria developed by a panel of experts in 1987. The sixth criterion focuses on skeletal findings and is as follows: "A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudarthrosis." The wording for this criterion is misleading. In particular, "thinning of long bone cortex" is not the characteristic radiographic presentation, and no mention of long bone bowing is included. The distinctive clinical feature of long bone dysplasia in neurofibromatosis type 1 is anterolateral bowing of the lower leg (portion of the body delimited by the knee and ankle). The usual radiographic findings of long bone dysplasia in neurofibromatosis type 1 at first presentation, prior to fracture, are anterolateral bowing with medullary canal narrowing and cortical thickening at the apex of the bowing. We suggest that anterolateral bowing of the lower leg, with or without fracture or pseudarthrosis, is a more appropriate description of the primary finding that a clinician will use to fulfill the sixth diagnostic criterion for neurofibromatosis type 1. Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1.
Stevenson
David A
DA
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.
Viskochil
David H
DH
Schorry
Elizabeth K
EK
Crawford
Alvin H
AH
D'Astous
Jacques
J
Murray
Kathleen A
KA
Friedman
J M
JM
Armstrong
Linlea
L
Carey
John C
JC
D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D011859:Radiography; D013977:Tibia / Q000000981:diagnostic imaging* / Q000473:pathology / Q000503:physiopathology