AJR Get Involved! Join ARRS Today
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
 QUICK SEARCH:   [advanced]


     


This Article
Right arrow Abstract Freely available
Right arrow Figures Only
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hassell, D. S.
Right arrow Articles by Fanburg-Smith, J. C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hassell, D. S.
Right arrow Articles by Fanburg-Smith, J. C.
Social Bookmarking
 Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
Hotlight (NEW!)
Right arrow
What's Hotlight?
DOI:10.2214/AJR.07.2589
AJR 2008; 190:582-588
© American Roentgen Ray Society


Original Research

Imaging Appearance of Diffuse Neurofibroma

Douglass S. Hassell1, Laura W. Bancroft1, Mark J. Kransdorf1,2, Jeffrey J. Peterson1, Thomas H. Berquist1, Mark D. Murphey2,3 and Julie C. Fanburg-Smith4

1 Department of Radiology, Mayo Clinic, 4500 San Pablo Rd., Jacksonville, FL 32224-3899.
2 Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, DC.
3 Departments of Radiology and Nuclear Medicine, Uniformed Services University of the Health Sciences, Bethesda, MD.
4 Department of Soft Tissue Pathology, Armed Forces Institute of Pathology, Washington, DC.

Received May 16, 2007; accepted after revision September 26, 2007.

 
Address correspondence to D. S. Hassell (dshassell{at}gmail.com).

The opinions or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the Department of the Army or the Department of Defense.


Abstract
Top
Abstract
Introduction
Materials and Methods
Results
Discussion
References
 
OBJECTIVE. The purposes of this study were to describe the imaging appearance of diffuse neurofibroma in 10 patients and to summarize demographic data on a large group of patients.

MATERIALS AND METHODS. Retrospective review of the pathology and radiology teaching databases at two institutions yielded the cases of 339 patients with a pathologic diagnosis of diffuse neurofibroma. Diagnostic-quality images were available for 10 patients. Images from MRI (n = 8), CT (n = 5), and sonographic (n = 1) examinations were evaluated for lesion location, size, depth of involvement, growth pattern, and intrinsic signal intensity, attenuation, or echogenicity. Demographic information, associated lesions, and tumor location were recorded for all patients.

RESULTS. Among 10 patients with images, eight of whom had neurofibromatosis, diffuse neurofibroma involved the skin and subcutaneous tissues (n = 9) and frequently extended to the fascia over muscle (n = 6). Plaquelike (n = 5) and infiltrative (n = 3) growth patterns were most common. One lesion had a mixed growth pattern. Prominent internal vascularity was common (n = 5). MRI signal intensity and CT attenuation were typically nonspecific. Enhancement was intense in all five patients with contrast-enhanced MR examinations. Including patients with and those without images, 349 diffuse neurofibromas were present in 339 patients. The mean patient age was 35.1 years. Lesions involved the extremities (n = 120), trunk (n = 122), head and neck (n = 98), and deep structures (n = 9).

CONCLUSION. Diffuse neurofibroma frequently grows as a plaquelike or infiltrative lesion involving the skin and subcutaneous tissues. Prominent internal vascularity is common. There is a much wider soft-tissue and age distribution and association with neurofibromatosis than previously reported.

Keywords: diffuse neurofibroma • neurofibromatosis


Introduction
Top
Abstract
Introduction
Materials and Methods
Results
Discussion
References
 
Neurofibroma is common, representing approximately 5% of all benign soft-tissue tumors in large surgical series. Three types of neurofibroma are classically described: localized, diffuse, and plexiform [1, 2]. The localized variety is the most common, representing approximately 90% of these lesions, and is the subtype most familiar to radiologists because its imaging appearance has been well documented. The plexiform subtype is essentially pathognomonic of neurofibromatosis 1 (NF1) and also is well reported.

Diffuse neurofibroma is an uncommon subtype of neurofibroma that has received little attention in the imaging literature. It has been reported to occur most commonly among children and young adults, typically involving the skin and subcutaneous tissues of the head and neck [37]. NF1 has been reported in only a minority of patients with diffuse neurofibroma [1, 3, 69]. Unlike other types of neurofibroma, which have a masslike pattern of growth, diffuse neurofibroma is a poorly defined lesion that spreads along connective tissue septa and surrounds rather than destroys adjacent normal structures [1, 3, 6, 7]. Surgical excision is not mandatory because malignant transformation is rare [2]. Resection is performed when the tumor is severely disfiguring or severely compromises function [10]. Complete resection is often difficult because of the extensive and infiltrative nature of many of these lesions [2, 3, 8, 10].

The scant literature on the imaging features of diffuse neurofibroma consists of scattered case reports [1, 5, 810]. In the largest case series to date [11], investigators examined the sonographic findings of diffuse neurofibroma in seven patients. As are most superficial lesions, diffuse neurofibroma is often evaluated clinically. If biopsy is needed, it is usually performed without imaging. The extent of large lesions may have to be determined with cross-sectional imaging. The pur pose of this study was to retrospectively examine the imaging features of pathologically proven diffuse neurofibroma to define the typical radiologic features. We also reviewed demographic and pathologic data on a large group of patients with diffuse neurofibroma to better define the spectrum of patient presentations, including age and sex, anatomic distribution of the lesions, and the existence of comorbid conditions.


Materials and Methods
Top
Abstract
Introduction
Materials and Methods
Results
Discussion
References
 
The study was conducted in accordance with the requirements of our institutional review board. In accordance with the requirements for a retrospective study, informed consent was not required. Retrospective searches were conducted of the pathology and radiology teaching databases at two institutions to identify cases of pathologically proven diffuse neurofibroma. One database covered 1994–2006 and the other 1960–2006. Inclusion criteria were confirmed pathologic diagnosis of diffuse neurofibroma, known lesion location, and availability of the demographic information on patient age and sex. A total of 339 patients met these criteria. In addition, we identi fied a subset of 10 patients with diagnostic-quality MR, CT, and/or sonographic images of diffuse neuro fibroma. In all cases, the diagnosis of diffuse neuro fibroma was made in accordance with pre viously described pathologic features and criteria [6] (Fig. 1A, 1B).


Figure 1
View larger version (142K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 1A 31-year-old man with neurofibromatosis. Histologic features of diffuse neurofibroma. Photomicrograph shows diffuse neurofibroma cells with short fusiform and round shapes present within fine fibrillary collagen background (black arrows). Scattered fat cells (white arrows) are present.

 

Figure 2
View larger version (131K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 1B 31-year-old man with neurofibromatosis. Histologic features of diffuse neurofibroma. Photomicrograph shows multiple laminated bodies (arrows) that resemble Wagner-Meissner tactile corpuscles and are characteristic of diffuse neurofibroma.

 

Demographic data were available on all 339 patients in the study group and included age and sex. Lesion location and associated pathologic diagnoses were determined from pathology reports. Lesion location was classified as head and neck, trunk, extremity, or deep. The head and neck classification included all structures of the head and neck region, both superficial and deep. The trunk consisted of the skin, subcutaneous tissues, fascia, and muscles of the chest, abdomen, and pelvis. The shoulder and hip regions were considered part of the trunk. The deep classification included all intrathoracic, intraabdominal, and intrapelvic structures (e.g., posterior mediastinum, lung apex, bladder, and mesentery).

Four musculoskeletal radiologists working in consensus reviewed diagnostic examinations of the subset of 10 patients who had MR, CT, or sonographic images or a combination of these images. Lesion size was measured, and maximal dimension recorded. When a lesion extended beyond the entire field of view, a maximal dimension was estimated. For analysis, lesions were subdivided by size into three groups: smaller than 5 cm, 5–15 cm, and larger than 15 cm. The dominant growth pattern was classified as plaquelike, infiltrative, masslike, or mixed. A plaquelike growth pattern was assigned to lesions that appeared as a thick slab of abnormal tissue without interposed noninvolved tissue. The maximal thickness of these lesions was measured. Lesions with poorly defined margins and areas of interposed uninvolved tissue were defined as infiltrative. The masslike growth pattern was assigned to lesions with well-defined margins and a roughly round or ovoid appearance. A mixed growth pattern displayed features of more than one primary growth pattern. The presence of involvement of skin, subcutaneous fat, fascia, muscle, and other tissues was assessed. Internal vascularity was subjectively established if vessels were clearly identified within the lesion on MRI, CT, or sonography.

Eight MRI examinations were available for eight patients. Lesion signal intensity was evaluated on T1-weighted, T2-weighted, and contrast-enhanced T1-weighted images. On T1-weighted images, signal intensity was defined relative to skeletal muscle and fat. Non-fat-suppressed T2-weighted images (spinecho, fast spin-echo, and turbo spin-echo sequences) were available for five of the eight patients who had MR images. Fat-suppressed T2-weighted images were available for the other three patients. Because of the variability in T2-weighted sequences, lesion signal intensity was determined relative to skeletal muscle. Gadolinium-enhanced images were available for five patients, and enhancement was subjectively defined as absent, mild, moderate, or intense. Images from five CT examinations were available for five patients. Three patients had undergone unenhanced imaging, and two had undergone contrast-enhanced imaging. Both unenhanced and contrast-enhanced CT scans were evaluated for lesion attenuation relative to skeletal muscle, and the lesions were defined as having low attenuation, similar attenuation, or high attenuation. If a diffuse neurofibroma exhibited fat attenuation, this finding was noted. Sonographic images were available for one patient and had been obtained at biopsy. A lesion was defined as hypoechoic, isoechoic, or hyperechoic on the basis of its echogenicity compared with adjacent normal tissues.


Results
Top
Abstract
Introduction
Materials and Methods
Results
Discussion
References
 
MRI, CT, and Sonographic Imaging Features
The imaging group included five male and five female patients (mean age, 40.6 ± 19.1 [SD] years; range, 13–69 years) (Table 1). Neurofibromatosis 1 (NF1) was present in seven patients and neurofibromatosis 2 (NF2) in one patient. The mean time between imaging and pathologic diagnosis was 7.3 months (range, 0–24 months). Imaging preceded pathologic diagnosis in all 10 cases. Diffuse neurofibromas were distributed on the trunk (n = 6), head and neck (n = 3), and extremities (n = 1). Lesions were typically large, most being larger than 15 cm (n = 5) or between 5 and 15 cm (n = 4). Only one lesion was smaller than 5 cm (n = 1).


View this table:
[in this window]
[in a new window]

 
TABLE 1: Patient Demographics and Characteristics of Diffuse Neurofibromas in Patients with Images Available

 

A plaquelike pattern of growth was dominant in five lesions. The mean plaque thickness was 2.5 cm (Fig. 2A, 2B). Skin and subcutaneous tissue involvement was present in all five plaquelike diffuse neurofibromas. Extension to the fascia overlying muscle was present in two of five plaquelike lesions. Deep extension into the left orbit was present in one patient (Fig. 3A, 3B, 3C). One plaquelike gluteal lesion was associated with a large hematoma in the subcutaneous tissues.


Figure 3
View larger version (86K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 2A 65-year-old man with plaquelike diffuse neurofibroma. Sagittal T1-weighted MR image (TR/TE, 500/16) shows thick plaquelike diffuse neurofibroma involving skin and subcutaneous tissues of back. Deep aspect (black arrow) of mass is well-defined, and deeper subcutaneous tissues are uninvolved. Small flow voids (white arrows) reflect prominent internal vascularity.

 

Figure 4
View larger version (103K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 2B 65-year-old man with plaquelike diffuse neurofibroma. Sagittal T2-weighted MR image (3,200/104) shows diffuse neurofibroma (white arrows) is markedly hyperintense in relation to muscle (black arrow).

 

Figure 5
View larger version (135K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 3A 24-year-old man with plaquelike diffuse neurofibroma of left temporal region with intraorbital extension. Axial T1-weighted MR image (TR/TE, 350/16) shows plaquelike diffuse neurofibroma extending from left temporal (thick arrow) to nasal region. Mass extends into orbit (thin arrow).

 

Figure 6
View larger version (146K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 3B 24-year-old man with plaquelike diffuse neurofibroma of left temporal region with intraorbital extension. Axial T2-weighted MR image (2,926/80) shows diffuse neurofibroma (arrows) to be mildly hyperintense in relation to muscle but of overall intermediate signal intensity.

 

Figure 7
View larger version (127K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 3C 24-year-old man with plaquelike diffuse neurofibroma of left temporal region with intraorbital extension. Axial contrast-enhanced T1-weighted MR image (400/19) shows prominent enhancement of diffuse neurofibroma (arrows).

 
Three lesions had an infiltrative growth pattern as opposed to the more common plaquelike growth pattern (Fig. 4A, 4B). Two infiltrative lesions were centered in the subcutaneous fat with extension to overlying skin and fascia overlying muscle. The third infiltrative lesion did not involve the skin or subcutaneous tissues and originated in the vastus medialis muscle above the left knee. All infiltrative lesions contained macroscopic fat, which in one case suggested a diagnosis of liposarcoma.


Figure 8
View larger version (99K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 4A 31-year-old woman with diffuse neurofibroma of left lateral buttock region shows infiltrative growth pattern. Axial T1-weighted MR image (TR/TE, 650/11) shows infiltrative diffuse neurofibroma (arrow) centered within subcutaneous tissue of left lateral buttock region.

 

Figure 9
View larger version (88K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 4B 31-year-old woman with diffuse neurofibroma of left lateral buttock region shows infiltrative growth pattern. Axial contrast-enhanced T1-weighted MR image (550/12) with fat saturation shows enhancement of infiltrative diffuse neurofibroma with extension to skin (thick arrow) and fascia (thin arrow) overlying right gluteal musculature.

 
One diffuse neurofibroma manifested as a mass centered in the subcutaneous tissues of the right frontal region (Fig. 5A, 5B). One final diffuse neurofibroma had a mixed growth pattern (Fig. 6A, 6B, 6C). This diffuse neurofibroma involved the skin and subcutaneous tissues in a plaquelike manner and the entire gluteus maximus muscle in an infiltrative manner without destroying the overall morphologic features of the muscle.


Figure 10
View larger version (147K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 5A 20-year-old man with masslike diffuse neurofibroma of right frontal region. Axial fat-suppressed T2-weighted MR image (TR/TE, 2,200/80) shows diffuse neurofibroma (arrow) to be mildly hyperintense in relation to skeletal muscle (seen on other axial images) or of overall intermediate signal intensity.

 

Figure 11
View larger version (150K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 5B 20-year-old man with masslike diffuse neurofibroma of right frontal region. Coronal contrast-enhanced T1-weighted MR image (500/17) with fat saturation shows intense enhancement of diffuse neurofibroma (arrow).

 

Figure 12
View larger version (102K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 6A 62-year-old woman with diffuse neurofibroma of right buttock. Axial T1-weighted MR image (TR/TE, 467/9) shows plaquelike thickening of skin (thin white arrow) of right gluteal region, which is slightly hyperintense in relation to muscle. At deep aspect of skin thickening, diffuse neurofibroma becomes more infiltrative (thick white arrow). Diffuse neurofibroma extends to and infiltrates right gluteus maximus muscle (black arrow), which is markedly enlarged.

 

Figure 13
View larger version (82K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 6B 62-year-old woman with diffuse neurofibroma of right buttock. Axial contrast-enhanced T1-weighted MR image (594/10) with fat saturation shows diffuse infiltration and marked enlargement of gluteus maximus muscle (arrow) with maintenance of overall muscle structure.

 

Figure 14
View larger version (158K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 6C 62-year-old woman with diffuse neurofibroma of right buttock. Sonographic image obtained during biopsy of diffuse neurofibroma shows mixed sonographic appearance. Superficial subcutaneous portion (black arrow) of mass is hyperechoic with small irregular hypoechoic areas. Deep intramuscular portion (white arrow) of mass is hypoechoic.

 

Overall, skin and subcutaneous tissues were involved by nine of 10 diffuse neurofibromas. There was extension to the fascia overlying muscle in six cases and involvement of structures deep to the fascia in two cases. Prominent internal vascularity was present in five lesions (Fig. 2A, 2B).

On T1-weighted MR images, signal intensity was similar to (n = 4) or mildly higher than (n = 3) that of skeletal muscle. In one case, the lesion was nearly isointense to fat. On T2-weighted images, lesions were either mildly (n = 4) or markedly (n = 4) hyperintense to skeletal muscle. Enhancement was intense in all five patients for whom contrast-enhanced T1-weighted images were available.

Attenuation on the unenhanced CT scans of three patients varied from lower than that of skeletal muscle (n = 1) through similar to that of skeletal muscle (n = 1) to similar to that of fat (n = 1). In the last case, the lesion of nearly fat attenuation had internal reticulations with attenuation similar to that of skeletal muscle. The diffuse neurofibroma had similar attenuation to muscle in one of two patients with contrast-enhanced CT scans. In the second patient with contrast-enhanced images, the lesion had reticulations with attenuation similar to that of skeletal muscle with areas of interposed fat attenuation. Absolute enhancement of diffuse neurofibroma on CT could not be determined because no patient had both unenhanced and contrast-enhanced images.

Sonographic images were available for one patient, in whom the diffuse neurofibroma had a mixed growth pattern (Fig. 6C). The superficial portion of the diffuse neurofibroma exhibited plaquelike involvement of the skin and subcutaneous tissues. This portion of the lesion was hyperechoic with multiple irregular hypoechoic areas. The deep infiltrative portion of this diffuse neurofibroma involved the entire gluteus maximus muscle and was diffusely hypoechoic.

Demographic Data
The demographic group consisted of 159 (47%) male and 180 (53%) female patients. The mean age was 35.1 ± 18.2 years (range, 1–94 years). The incidence of neurofibromatosis among the patients without images was unknown because the historical records on neurofibromatosis were incomplete. A total of 349 diffuse neurofibromas were identified in the 339 patients. Lesion distribution included the extremities (n = 120, 34%), trunk (n = 122, 35%), head and neck (n = 98, 28%), and deep structures (n = 9, 3%) (Fig. 7). No additional pathologic lesion was identified in 306 (88%) of the patients. Thirty-four (10%) of the lesions were mixed plexiform and diffuse neurofibroma and were identified in 34 patients. Underlying malignant lesions were present in nine (3%) of the diffuse neurofibromas in nine patients. Among these tumors were four malignant peripheral nerve sheath tumors, one dermatofibrosarcoma protuberans, one angio sarcoma, one neuroectodermal tumor, and two malignant tumors that were not otherwise specified.


Figure 15
View larger version (15K):
[in this window]
[in a new window]
[as a PowerPoint slide]
 
Fig. 7 Chart shows distribution of 349 diffuse neurofibromas in 339 patients.

 


Discussion
Top
Abstract
Introduction
Materials and Methods
Results
Discussion
References
 
Diffuse neurofibroma is a relatively rare tumor that has been reported to occur primarily in children and young adults [37]. The wide age range of patients in our study, however, serves to redefine this demographic characteristic, as does the expanded scope of soft-tissue involvement. Although it has been previously described as the most typical site [38], the head and neck region accounted for only 28% of all lesions in our series. Trunk and extremity lesions were more common, each accounting for slightly more than one third of all diffuse neurofibromas.

The incidence of neurofibromatosis among patients with diffuse neurofibroma has been reported to be approximately 10% [6]. Although the incidence of neurofibromatosis in our entire study population is unknown, seven of the 10 patients in the imaging subset had NF1. Another patient had NF2. These findings and those of Megahed [12] suggest an increased incidence of NF1 among patients with diffuse neurofibroma. Some authors [3, 4] have speculated that the low reported incidence of NF1 among patients with diffuse neurofibroma may be related to difficulty in diagnosing NF1 in young patients. That the mean age of the imaging patients in our study was 41 years, clearly beyond the child–young adult age group identified by others as the most common cohort with diffuse neurofibroma, may be evidence of a greater association with neurofibromatosis.

In the small number of patients in whom an associated lesion was identified at pathologic examination, plexiform neurofibroma was found in 34 (79%) of 43 instances. Because plexiform neurofibroma is strongly associated with NF1, the association between diffuse neurofibroma and NF1 may be stronger than previously thought. Underlying malignancy, most commonly a malignant peripheral nerve sheath tumor, was present in 3% (9/349) of the lesions in our series. This low incidence of associated malignancy is concordant with the belief that malignant transformation of diffuse neurofibroma is rare [3, 4].

Most diffuse neurofibromas were isointense or mildly hyperintense in relation to muscle on T1-weighted images and mildly or markedly hyperintense to muscle on T2-weighted images. These signal intensity characteristics are similar to those described in previous case reports [5, 8, 9]. Intense enhancement on contrast-enhanced images was the rule and has been reported previously [5, 9]. Prominent internal vascularity was also a common finding in our study and has been previously reported [8, 9].

Although the signal intensity was not specific, the pattern of growth was quite characteristic of diffuse neurofibroma. Skin and subcutaneous tissue involvement was most typical. Extension to fascia overlying muscle and to deeper tissues was less common. A plaquelike growth pattern was present in five of 10 patients and was most characteristic. This pattern was previously described by de Varebeke et al. [5] in a case report of diffuse neurofibroma of the neck. Microscopic analysis has shown that diffuse neurofibroma is known to infiltrate the dermis and subcutaneous tissue, often extending along connective tissue septa [1, 3, 6, 7]. The imaging appearance of a plaquelike mass therefore is not unexpected.

Three diffuse neurofibromas in our study had an infiltrative growth pattern with internal areas of macroscopic fat. This infiltrative growth pattern is another presentation of diffuse neurofibroma. The appearance of two of these lesions was similar to that described by Huang et al. [1]. The internal macroscopic fat within the two infiltrative subcutaneous diffuse neurofibromas seen at imaging most likely represented preserved subcutaneous fat within tissue infiltrated by the diffuse neurofibroma. The third diffuse neurofibroma with macroscopic fat arose within the vastus medialis muscle. The amount of fat within this lesion was greater than would be expected even in the setting of complete atrophy or fatty replacement of the muscle. Mesenchymal elements, including mature fat and ectatic vessels, have been reported to be associated with neurofibromatous tissue [6]. The presence of the mesenchymal fat may account for the appearance of this diffuse neurofibroma.

In our study, imaging preceded pathologic diagnosis in all 10 cases. Detailed information on clinical decision-making at initial presentation was available for only two patients. In these two cases, the diagnosis of diffuse neurofibroma was not initially entertained clinically. In one case, diffuse neurofibroma was prospectively suggested on the basis of the imaging features of the lesion, namely, its plaquelike growth pattern. In the other cases, we had incomplete information regarding the clinical decision-making at imaging and image-guided or surgical biopsy.

Sonography has been increasingly used in the evaluation of soft-tissue masses, including diffuse neurofibroma. Wide availability, lack of ionizing radiation, cost-effectiveness, and speed of examination are advantages of sonography. Sonography, however, can be limited in assessment of the extent of large lesions and in discerning lesion margins. Chen et al. [11] reported on the sonographic features of diffuse neurofibroma. All seven diffuse neurofibromas in their study were located in the subcutaneous fat zone, and all were hyperechoic masses permeated by multiple interconnecting irregular hypoechoic tubular or nodular structures. Sonographic images, obtained at the time of biopsy, were available for a single patient in our imaging subset. The subcutaneous plaquelike portion of this diffuse neurofibroma with a mixed growth pattern had sonographic features similar to those described by Chen et al. The deeper, infiltrative portion, however, was diffusely hypoechoic, differing from the subcutaneous diffuse neurofibromas described by Chen et al. It is difficult to draw conclusions from a single case, but perhaps the sonographic appearance of deeper tissue (e.g., muscle) involvement differs from that of subcutaneous tissue involvement. More study is needed into the sonographic appearance of deep involvement by diffuse neurofibroma.

Limitations of this study include its retrospective nature, small number of patients with relevant images, and variability of the imaging protocols among patients. Lack of information regarding clinical decision-making at imaging and biopsy and about the surgical procedures performed are additional limitations. Nonetheless, we believe the patient demographics, lesion locations, pathologic subtype information, and imaging findings are revealing. Diffuse neurofibroma affects a wider age range of patients than previously believed, and there is a more even distribution of cases among the head and neck, trunk, and extremities. The incidence of underlying malignancy associated with diffuse neurofibroma is low, but the association with neurofibromatosis is likely greater than previously reported.

Imaging features most suggestive of diffuse neurofibroma include a plaquelike or infiltrative pattern of growth involving the skin and subcutaneous tissues, prominent internal vascularity, and marked contrast enhancement. In our experience, few lesions manifest with the combination of plaquelike growth, prominent internal vascularity, and marked enhancement, and these features in particular are strongly suggestive of diffuse neurofibroma. Although the imaging experience with this lesion is too limited for the conclusion that the plaquelike appearance is pathognomonic of diffuse neurofibroma, this appearance is quite characteristic. Cutaneous lymphoma and hemangioma, in some instances, are two additional differential considerations. The infiltrative growth pattern, in contrast, is nonspecific. Nonneoplastic conditions such as cellulitis and hemorrhage can manifest in this manner and are much more common than diffuse neurofibroma. Angiomatous lesions such as hemangioma, angiolipoma, and angiomyolipoma also can mimic the infiltrative appearance of some diffuse neurofibromas.

As are most superficial lesions, diffuse neurofibromas are often evaluated clinically; if pathologic diagnosis is needed, biopsy is often performed without imaging. Imaging may be needed to determine the extent of large lesions and those suspected of having deeper extension. Cross-sectional imaging, including MRI, CT, and sonography, is well suited to defining the extent of disease, and the findings may suggest the diagnosis of diffuse neurofibroma before pathologic confirmation.


References
Top
Abstract
Introduction
Materials and Methods
Results
Discussion
References
 

  1. Huang GS, Huang CW, Lee HS, et al. Diffuse neurofibroma of the arm: MR characteristics. AJR 2005;184 :1711 –1712[Free Full Text]
  2. Coakley D, Atlas MD. Diffuse neurofibroma obstructing the external auditory meatus. J Laryngol Otol 1997;111 : 145–147[Medline]
  3. Van Zuuren EJ, Posma AN. Diffuse neurofibroma on the lower back. J Am Acad Dermatol 2003;48 : 938–940[CrossRef][Medline]
  4. Kapadia SB, Janecka IP, Curtin HD, Johnson BL. Diffuse neurofibroma of the orbit associated with temporal meningocele and neurofibromatosis-1. Otolaryngol Head Neck Surg 1998;119 : 652–655[CrossRef][Medline]
  5. de Varebeke SJ, De Schepper A, Hauben E, et al. Subcutaneous diffuse neurofibroma of the neck: a case report. J Laryngol Otol 1996; 110:182 –184[Medline]
  6. Weiss SW, Goldblum JR. Benign tumors of peripheral nerves. In: Enzinger and Weiss's soft tissue tumors, 4th ed. St. Louis, MO: Mosby, 2001:1132 –1140
  7. Kransdorf MJ, Murphey MD. Neurogenic tumors. In: Imaging of soft tissue tumors, 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2006:334 –338
  8. Beggs I, Gilmour HM, Davie RM. Diffuse neurofibroma of the ankle. Clin Radiol 1998;53 : 755–759[CrossRef][Medline]
  9. Peh WC, Shek TW, Yip DK. Magnetic resonance imaging of subcutaneous diffuse neurofibroma. Br J Radiol 1997;70 :1180 –1183[Abstract]
  10. Ergun SS, Emel E, Karabekir S, et al. Extracranial diffuse neurofibroma with intracranial extension. Plast Reconstr Surg 2000; 105:801 –803[CrossRef][Medline]
  11. Chen W, Jia JW, Wang JR. Soft tissue diffuse neurofibromas: sonographic findings. J Ultrasound Med2007; 26:513 –518[Abstract/Free Full Text]
  12. Megahed M. Histopathologic variants of neurofibroma: a study of 114 cases. Am J Dermatopathol 1994;16 : 486–495[Medline]

Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?



This Article
Right arrow Abstract Freely available
Right arrow Figures Only
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hassell, D. S.
Right arrow Articles by Fanburg-Smith, J. C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hassell, D. S.
Right arrow Articles by Fanburg-Smith, J. C.
Social Bookmarking
 Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
Hotlight (NEW!)
Right arrow
What's Hotlight?


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS