musculoskeletal fibromatoses

Note: This copy is for your personal, non-commercial use only. To order presentation-ready copies for distribution to your colleagues, use the RadioGraphics Reprints form at the end of this article. 2143AFIP ARCHIVES Mark D. Murphey, MD • Chad M. Ruble, MD • Sean M. Tyszko, LCDR, MC, USN • Andrew M. Zbojniewicz, MD • Benjamin K. Potter, MAJ, MC, USA • Markku Miettinen, MD Musculoskeletal fibromatoses represent a wide spectrum of fibroblastic and myofibroblastic neoplasms with similar pathologic appearances and vari- able clinical behavior. These lesions can be categorized by location (super- ficial or deep) or by the age group predominantly affected. Superficial fi- bromatoses in adults (palmar and plantar) and children (calcifying aponeu- rotic fibroma, lipofibromatosis, and inclusion body fibromatosis) are often small slow-growing lesions; their diagnosis is suggested by location. Deep fibromatoses in adults (desmoid type and abdominal wall) and children (fi- bromatosis colli and myofibroma and myofibromatosis) are frequently large and more rapidly enlarging; location of these lesions may be nonspecific. Radiographic findings typically are nonspecific. Cross-sectional imaging (ultrasonography, computed tomography, or magnetic resonance [MR] imaging) reveals lesion location, extent, and involvement of adjacent struc- tures for staging and evaluation of local recurrence. MR imaging findings of predominantly low to intermediate signal intensity, nonenhancing bands of low signal intensity on long repetition time MR images that represent collagenized regions, and extension along fascial planes (“fascial tail” sign) add specificity for diagnosis. Additional features that aid in diagnostic spec- ificity include an abdominal wall location related to pregnancy (abdominal wall fibromatosis), a lower neck location in a young child (fibromatosis colli), an adipose component (lipofibromatosis), or multiple lesions in young children (myofibromatosis). Treatment may be conservative or surgi- cal resection, depending on the specific diagnosis. Local recurrence is com- mon after surgical resection owing to the infiltrative growth of these lesions. Recognition that the appearances of the various types of musculoskeletal fibromatoses reflect their pathologic characteristics improves radiologic as- sessment and helps optimize patient management. radiographics.rsna.org From the Archives of the AFIP Musculoskeletal Fibromatoses: Radiologic-Pathologic Correlation1 LEARNING OBJECTIVES FOR TEST 6 After reading this article and taking the test, the reader will be able to: Identify the radio- ■ logic manifestations of the musculoskele- tal fibromatoses. Describe the ■ pathologic basis of the radiologic features of the mus- culoskeletal fibro- matoses. Discuss the patho- ■ logic appearance and variations of the musculoskeletal fibromatoses as well as the treatment op- tions and prognoses. RadioGraphics 2009; 29:2143–2176 • Published online 10.1148/rg.297095138 • Content Code: 1From the Department of Radiologic Pathology (M.D.M., C.M.R.) and Department of Soft Tissue and Orthopedic Pathology (M.M.), Armed Forces Institute of Pathology, 6825 16th St NW, Building 54, Room M-133A, Washington, DC 20306; Department of Radiology and Nuclear Medicine, Uniformed Services University of the Health Sciences, Bethesda, Md (M.D.M.); Department of Radiology, National Naval Medical Center, Bethesda, Md (S.M.T.); Department of Radiology, West Virginia University, Morgantown, WV (A.M.Z.); and Integrated Department of Orthopaedics and Rehabilitation, Walter Reed Army Medical Center, Washington, DC (B.K.P.). Received June 30, 2009; revision requested July 29 and received August 21; accepted August 26. All authors have no financial relationships to disclose. Address correspondence to M.D.M. (e-mail: murphey@afip.osd.mil). The opinions or assertions contained herein are the private views of the authors and are not to be construed as official nor as reflecting the views of the Departments of the Army, Navy, or Defense. See last page TEACHING POINTS CME FEATURE See accompanying test at http:// www.rsna.org /education /rg_cme.html 2144 November-December 2009 radiographics.rsna.org Introduction The musculoskeletal fibromatoses represent a wide range of fibroblastic to myofibroblastic pro- liferations that are grouped together because of their similar pathologic appearances. The clinical behavior of these tumors is intermediate between that of benign and malignant fibrous lesions; they commonly manifest infiltrative growth, resulting in frequent local recurrence but lacking meta- static potential. The World Health Organization (WHO) Committee for Classification of Soft Tissue Tumors in 2002 (1) categorized these le- sions as superficial or deep, based on their ana- tomic location. The superficial fibromatoses in- clude palmar and plantar fibromatosis. The deep fibromatoses include desmoid type and abdomi- nal wall fibromatosis. Several types of fibroma- tosis primarily affect children, and these include fibromatosis colli, lipofibromatosis, calcifying aponeurotic fibroma, inclusion body fibromatosis, and myofibroma and myofibromatosis. The superficial fibromatoses, whether they occur in adults (palmar and plantar) or children (calcifying aponeurotic fibroma, lipofibromato- sis, and inclusion body fibromatosis), are typi- cally small lesions that grow slowly. Diagnosis of these superficial lesions is often suggested by their clinical appearances and location. The deep fibromatoses in both adults (desmoid type and abdominal wall) and children (fibromatosis colli and myofibroma and myofibromatosis) are usu- ally larger and often enlarge more rapidly. The diagnosis of deep fibromatoses may be suggested by their clinical characteristics, particularly anatomic location and patient age: fibromatosis colli, which typically involves the lower neck and sternocleidomastoid muscle in a young child; ab- dominal wall fibromatosis, which manifests as a mass involving the rectus abdominus muscle and is often related to pregnancy; or myofibromatosis, which occurs as multicentric disease in a young child. However, the clinical findings of desmoid type fibromatosis are often nonspecific. Cross- sectional imaging (ultrasonography [US], com- puted tomography [CT], or magnetic resonance [MR] imaging) reveals lesion location, extent, and involvement of adjacent structures and thus is useful for tumor staging and evaluation of lo- cal recurrence. Additional MR imaging features, which are related to underlying pathologic char- acteristics, provide increased specificity for diag- nosis of musculoskeletal fibromatoses. Treatment of musculoskeletal fibromatoses may range from conservative management to surgical resection and is influenced by the specific diagnosis and lesion extent determined at imaging evaluation. Local recurrence is common after surgical resec- tion, owing to the infiltrative growth seen patho- logically in these lesions. In this article, we review, illustrate, and cor- relate the clinical, pathologic, and radiologic features of the various types of musculoskeletal fibromatoses and discuss their treatment and prognosis. Superficial Fibromatoses Palmar Fibromatosis Clinical Features.—Palmar fibromatosis was originally described in 1831 by the French physician Dupuytren and is often referred to as Dupuytren disease or contracture (1–5). It is the most common of the superficial fibroma- toses, affecting 1%–2% of the general population (1–5). The disease is seen almost exclusively in Caucasians and is particularly frequent in those of Northern European ancestry and in lands settled by immigrants from these areas. The highest prevalence of palmar fibromatosis is seen in northern Scotland, Iceland, Norway, and Australia (5). Palmar fibromatosis is rare in populations of African or Asian descent. The dis- ease most commonly occurs in patients over 65 years of age, with a frequency of 20% in this age group (1–6). Men are three to four times more likely to be affected by the disease than women, and lesions are bilateral in 40%–60% of patients (1–5). The etiology of palmar fibromatosis is not completely understood, but it is thought to be multifactorial, including associations with trauma, microvascular injury, immunologic processes, and genetic factors (up to 68% of pa- tients may have a family history of musculoskel- etal fibromatoses) (1–5). Patients present clinically with painless, sub- cutaneous nodules. These nodules may progress slowly (over months to years) to fibrous cords or bands that attach to and cause traction on the underlying flexor tendons, resulting in flexion contractures of the digits (Dupuytren contrac- tures) (Fig 1). The ulnar sided rays, particularly the fourth and fifth digits, are most commonly involved in palmar fibromatosis (1). Patients with this disease commonly have other types of fibro- matoses, including plantar fibromatosis (5%–20% of cases), Peyronie disease, and knuckle pads (3, 5). Knuckle pad involvement (or knuckle pad fibromatosis) is caused by focal fibrous thickening dorsally at the proximal interphalangeal (PIP) or metacarpalphalangeal (MCP) joint (Fig 2), may precede the development of palmar fibromatosis, and is usually asymptomatic (7). Additional dis- eases that are associated with palmar fibromatosis include diabetes mellitus (20% of patients), epi- lepsy (50% of male patients and 25% of female Teaching Point RG ■ Volume 29 • Number 7 Murphey et al 2145 Figure 2. Knuckle pad fibromatosis in a 29-year-old man. (a) Clinical photograph shows nodular thickening over the dorsum of the PIP joint (ar- row). (b) Lateral radiograph reveals nodular thickening over the third and fourth PIP joints of the hand (arrows). (c) Sagittal T1-weighted (516/10) MR image demonstrates an intermediate-signal-intensity soft-tissue mass dorsal to the PIP joint of the third digit (arrowhead). (d) Sagittal fat- suppressed T1-weighted (567/10) postcontrast MR image shows moderate diffuse enhancement of the knuckle pad mass (arrowhead). (e) Axial fat- suppressed proton density–weighted (2850/25) MR image shows intermedi- ate signal intensity in the soft-tissue mass (arrowhead). Figure 1. Palmar fibromatosis in a 62-year-old man with ulnar digit contractures (Dupuytren contractures). (a) Clinical photograph reveals thick bands that cause flexion contractures of the ulnar sided digits and associated puckering of the pal- mar skin (arrows). (b, c) Axial (b) and sagittal (c) T1-weighted (repetition time msec/echo time msec = 633/20) MR images show low-signal-intensity superficial bands (arrows) that cause flexion contractures because of their attachment to the flexor tendons (T). (d) Intraoperative photograph demonstrates initial release and resection of the band of palmar fibromatosis (arrowheads) from the flexor tendon sheath (T). 2146 November-December 2009 radiographics.rsna.org of tendon) on T1- and T2-weighted images (Fig 1). In 18% of cordlike lesions, the signal intensity was slightly higher than that of tendon (intermedi- ate to low signal) on T1- and T2-weighted images (13). The nodular masses had more variable signal intensity, with 85% revealing intermediate signal intensity on both T1- and T2-weighted images and 15% showing low signal intensity with all pulse sequences (Figs 1, 2). The corresponding histo- logic analysis revealed that the lesions of low signal intensity with all pulse sequences contained rela- tive hypocellularity and abundant dense collagen. In contradistinction, the lesions of intermediate signal intensity on both T1- and T2-weighted im- ages were more cellular or mixed, with less abun- dant collagen (13). Lesions with a higher cellular component have been shown to have a higher local recurrence rate following local excision (13,14). This information is important because preop- erative MR imaging may assist the surgeon in determining the appropriate timing for excision (13,14). Postcontrast MR imaging (ie, performed after intravenous administration of contrast mate- rial) often reveals diffuse enhancement of variable degree—but, in our experience, more prominent- ly—in lesions with increased cellularity (Fig 2). Treatment and Prognosis.—There is no signifi- cant evidence supporting the efficacy of any non- operative treatment of palmar fibromatosis such as splinting, topical agents, or steroid injections (15,16). Although spontaneous regression of pal- mar fibromatosis has been reported in rare cases, surgical excision remains the treatment of choice (Fig 1). Surgical intervention is usually indicated for disease that causes flexion contracture greater than 20° at the MCP joints or more than 30° at the PIP joints (15). More recently, indications for surgery have depended more directly on patient symptoms, although the aforementioned criteria remain useful guidelines. Operative treatments have included fasciotomy (selective or segmental) and radical fasciectomy. However, use of radi- cal fasciectomy has been largely abandoned, and selective fasciectomy of only diseased locations is now most commonly advocated (15,17). The low- est rate of recurrence (less than 10%) has been re- ported in those patients who undergo dermatofas- ciectomy with skin grafting, although this extensive surgery should be reserved for patients with severe disease (18–20). Surgical complications, including infection, digit ischemia, and digital nerve injury, occur in approximately 17% of patients, with high- er rates reported in cases of recurrent disease (16). Local recurrence is common, affecting 30%– 40% of patients undergoing local excision and as high as 40%–50% at 5 years after surgery patients), alcoholism (particularly liver disease related to alcoholism), and keloids (1–5). Pathologic Features.—At gross pathologic exam- ination, palmar fibromatosis lesions appear gray- white or gray-yellow, depending on their collagen content. The nodules in palmar fibromatosis are typically very small (<1 cm) and often coalescent. Lesions are usually intimately related to the palmar aponeurosis and may be adherent to the overlying skin, causing puckering or dimpling (Fig 1). At histologic analysis, palmar fibromatosis dem- onstrates a uniform fibroblastic-myofibroblastic proliferation of spindle-shaped cells with variably prominent vascularity, although the vascularity is typically less than that seen in desmoid type fibro- matosis (6,8,9). The degree of cellularity depends on the age of the lesion, with younger lesions (pro- liferative phase) revealing hypercellularity. Older, more chronic lesions demonstrate much less cel- lularity, with relatively more prominent collagen content. Moderate mitotic activity can be present but is not indicative of malignancy. Cytogenetic aberrations, particularly a gain at chromosome 7 or 8, have been detected in approximately 10% of cases of palmar fibromatosis (1–5). Imaging Features.—Radiographic findings of palmar fibromatosis are typically normal, other than the flexion contractures. US reveals hy- pervascular, hypoechoic nodules in the palmar subcutaneous tissues, superficial to the flexor ten- dons (10–12). US also allows real-time dynamic assessment of the integrity of the flexor mecha- nism of the digits. CT shows nonspecific, nodular regions of thickening with attenuation values similar to or slightly higher than those of muscle. At MR imaging, palmar fibromatosis appears as multiple nodular (including knuckle pad fibro- matosis) or cordlike, superficial soft-tissue masses that arise from the proximal palmar aponeurosis and extend superficially in parallel with the flexor tendons (Figs 1, 2). Lesion length varies from 10 to 55 mm (2–10 mm in diameter), and lesions ter- minate in either a branching or nodular configura- tion at the level of the distal metacarpal (13). The intrinsic appearance of palmar fibromatosis is variable. Yacoe and co-workers (13) evaluated the MR imaging appearance of palmar fibromato- sis in 11 patients and correlated the findings with the histologic cellularity of the lesions (3). These authors observed 22 cordlike and 13 nodular soft- tissue masses on MR images of these patients (13). In 82% of the cordlike masses, the signal intensity was predominantly hypointense (similar to that Teaching Point RG ■ Volume 29 • Number 7 Murphey et al 2147 (18,20). Despite the significant incidence of lo- cal recurrence, flexion contractures are reliably improved with surgical intervention, and only approximately 17% of patients with recurrent disease require reoperation (19). In the study of Yacoe and colleagues (13), active lesions with increased cellularity (with intermediate signal intensity on T1- and T2-weighted MR images) correlated with a higher local recurrence rate. We believe that MR imaging, in addition to de- termining lesion extent, may help indicate which lesions are optimal for excision and may help lessen the likelihood of local recurrence following surgery (21). Lesions demonstrating higher de- grees of cellularity at MR imaging may be better managed by delaying surgical intervention, thus allowing them to mature with increased collagen- ization before the initial resection (21). Follow-up MR imaging may reveal evidence of this matura- tion, as the lesions progressively demonstrate in- creasingly lower signal intensity (13,21). Plantar Fibromatosis Clinical Features.—Plantar fibromatosis was reported by Dupuytren in 1832 but was more extensively described by Ledderhose in 1897 (3). It is frequently referred to as Ledderhose disease. Plantar fibromatosis occurs less often than palmar Figure 3. Plantar fibromatosis in a 27-year-old woman with a slowly enlarging soft-tissue mass. (a) Clinical photograph shows a medial plantar soft- tissue mass (arrows). (b) Short-axis CT image of the foot reveals a soft-tissue-attenuation mass (*) in the medial aspect of and extending deep to the plantar aponeurosis (arrowheads). (c) Photomicrograph (original magnification, ×200; hematoxylin-eosin [H-E] stain) reveals a relatively hypercellular tumor composed of fascicles of fibroblasts that represent the more proliferative phase of plantar fibromatosis. disease, with a prevalence of 0.23% (22). Although the frequency of the condition increases with age (similar to palmar fibromatosis), plantar disease is seen most often in patients aged 30–50 years (1–5). In a large study from the Armed Forces Institute of Pathology (AFIP) by Fetsch and col- leagues (6), 44% of patients were younger than 30 years of age. Men are affected twice as commonly as women, although there is a marked female pre- dilection among the pediatric age group. Bilateral involvement is seen in 20%–50% of patients and is typically metachronous with a 2–7-year inter- val (1–5). Concomitant palmar disease occurs in 10%–65% of patients and is usually metachronous with a 5–40-year interval (only rarely synchro- nous) (1–5). Knuckle pads are seen in 42% of pa- tients (5). Similar to palmar fibromatosis, plantar disease is believed to have a multifactorial etiology, including genetic and traumatic causes. The dis- ease is also seen more commonly in patients with diabetes mellitus, epilepsy, keloids, and alcoholism with liver disease (1–5). Patients typically present with a soft-tissue mass composed of one (plantar fibroma) or more firm, subcutaneous nodules on the medial as- pect of the sole of the foot (Fig 3). Nodules may be multiple in 33% of cases (3,5). Patients are frequently asymptomatic; less commonly, they may experience pain, which is usually associated 2148 November-December 2009 radiographics.rsna.org Figure 4. Plantar fibromato