Macrodystrophia lipomatosa: A troubled second big toe Radiology Case Reports Volume 3, Issue 4, 2008 RCR Radiology Case Reports | radiology.casereports.net 1 DOI: 10.2484/rcr.2008.v3i4.92 Citation: Mahmood A, Mahmood NF. Macrodystrophia Lipomatosa: A troubled second big toe. Radiology Case Reports. [Online] 2008;3:92. Copyright: © 2008 The Authors. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 2.5 License, which permits reproduction and distribution, provided the original work is properly cited. Commercial use and derivative works are not permitted. Abbreviations: CT, computed tomography; MRI, magnetic resonance imaging Ali Mahmood, M.D. (Email: StrikerMD@hotmail.com), is in the Department of Surgery, St. Joseph Mercy Oakland Hospital and Medical Center, Pontiac, MI, USA. Nadia F. Mahmood, M.D., is in the Department of Radiology, St. Joseph Mercy Oak- land Hospital and Medical Center, Pontiac, MI, USA. Published: October 1, 2008 DOI: 10.2484/rcr.2008.v3i4.92 Macrodystrophia Lipomatosa: A troubled second big toe Ali Mahmood, M.D., and Nadia F. Mahmood, M.D. We report the case of a 4-year-old boy who presented to our facility with an enlarged right sec- ond toe. After radiography ruled out acute pathology, an MRI showed increased adipose tissue at the distal aspect of the appendage. Although the parent felt that the appendage was unaesthetic, there was no functional issue, and further discussion with the pediatricians and pediatric surgeons resolved the need for immediate intervention. Macrodystrophia Lipomatosa is a rare entity that predominantly affects the pediatric population. Distributed evenly in the males and females, the disease pertains to hypertrophy of fibroadipose tissue of the distal upper and lower extremities. Macrodystrophia Lipomatosa is a rare entity that predominantly affects the pediatric population. Dis- tributed evenly in the males and females, the disease pertains to hypertrophy of fibroadipose tissue of the distal upper and lower extremities. Introduction Case Report A 4-year-old boy presented to our facility with significant enlargement of the right second toe. The patient’s mother stated that the involved digit had always been disproportionately large; however it was progressively growing in relation to the remaining digits. He had undergone resection of the distal phalanx of the second toe at the age of one year due to the hypertrophy present at that time. The working diagnosis given at that time was progressive macrodactyly of the second digit. The child did not have any other medical problems, prior hospitalizations or history of recent trauma. He maintained an adequate range of motion of the lower extremity and his second toe was not tender or warm to palpation. The mobility of the digit was slightly com- promised, however he was able to move it. There did not appear to be any abnormality with his balance, although he was not entirely comfortable with his ambula- tion. The patient’s mother complained not only of the aesthetic problem, but stated that she had to purchase two different sizes of shoes for her child. An x-ray of the affected extremity was obtained immediately to rule out an acute process (Fig. 1), followed by an MRI study (Fig. 2). The surgery team was consulted, and after significant RCR Radiology Case Reports | radiology.casereports.net 2 DOI: 10.2484/rcr.2008.v3i4.92 Macrodystrophia Lipomatosa: A Troubled Second Big Toe Figure 1. 4-year-old boy with macrodystrophia lipomatosa. AP radiograph of the right foot demonstrates enlargement of the soft tissues (arrow) of the second toe, which appears to be laterally deviated and approximates the first digit in size. Note is made of distal phalanx resection of the second toe with broadening and irregularity of the distal aspect of the remaining distal phalanx. Macrodystrophia lipomatosa is a form of localized gigantism characterized primarily by proliferation of mesenchymal elements, particularly with a dispropor- tionate increase in adipose tissue (1-3). First described by Feriz in 1925, the disease entity was expanded and has been repeatedly reported in both the upper and lower extremities (4, 5). A confirmed etiology does not exist; however, hypotheses include irregularities in the fetal circulation, lipomatous degeneration, malignant components of nerve origin altering somatic cells during embryo development, and insults to growth-inhibiting factors (6, 7, 8). However, these abnormalities were not described in our patient’s histopathology, nor are they Discussion Figure 2. 4-year-old boy with macrodystrophia lipomatosa. MRI axial T1 weighted image demonstrates increased adi- pose tissue (arrow) around the distal aspect of the second toe, which is laterally deviated. discussion physicians and family members determined that surgery would not be immediately offered. Pathol- ogy reports obtained from a separate institution, where the patient had undergone amputation of his distal phalanx, described an enlarged gross specimen with near normal architecture but with significant amounts of normal-appearing adipose tissue. His condition was attributed to macrodystrophia lipomatosa. Plans were made to monitor the child extensively to ensure mobil- ity and functionality. Should these be compromised or the disfigurement become excessive, the pediatric surgeons would intervene. RCR Radiology Case Reports | radiology.casereports.net 3 DOI: 10.2484/rcr.2008.v3i4.92 Macrodystrophia Lipomatosa: A Troubled Second Big Toe described in numerous other patients reported in the literature (9). Grossly, the disease affects the second or third digits of the lower or upper extremity and renders them thickened, pale, and nontender to palpation, with often impressive soft-tissue hypertrophy. Histopatho- logical analysis revealed marked hypertrophy of adipose tissue with possible involvement of the bone marrow, periosteum, muscles, and nerve sheaths. Abnormal tissue often proliferates along the median nerve distribu- tion of the hand and plantar region of the foot (10, 11). There have been isolated reported cases of hypertrophied adipose tissue extending beyond the extremities and into the abdomen (12). The integrity of the underlying trabicular architecture, however, remains normal (13). Interestingly, the sheer mass effect of the adipose tissue deposits can cause symptoms such as carpal tunnel syndrome, particularly when the deposits are situated beneath the flexor retinaculum and impinge on the median nerve (14). The disease usually presents at birth and manifests as one of the two forms of true macrodactyly. The first type, coined “static,” causes the involved digit to grow proportionately in relation to the other digits [15]. The second type, “progressive,” involves growth of the involved digit more rapidly than the rest of the extrem- ity, which is more in concordance with macrodystrophia lipomatosa. Radiographic evidence of macrodystrophia lipoma- tosa consists of soft-tissue overgrowth prominently in the median and plantar nerve distribution. Soft-tissue radiolucency is often accompanied by elongated, thick- ened phalanges with splayed distal ends resembling a “mushroom” shape (15, 16). These findings are usually on the volar aspect of the digit and the respective distal end. Magnetic resonance imaging (MRI) studies have rapidly become the test of choice for elucidating the characteristic findings and helping establish the diag- nosis. T1- and T2-weighted images, particularly in the coronal cross sections, reveal the proliferation of adipose tissue (17, 18). Bony or muscular abnormalities, such as cortical thickening or fibrous thickening, are also visual- ized using MRI studies. Sagittal short-tau inversion-re- covery (STIR) images confirm the fatty lesions by signal suppression. It is important to differentiate macrodystrophia lipomatosa from other diseases. Differential diagnoses include neurofibromatosis, lymphangiomatosis, he- mangiomatosis, fibrolipomatosis of the nerve, Klippel- Trenaunay-Weber syndrome, Maffucci’s syndrome, and Ollier’s disease (enchondromas). Neurofibromatosis exhibits signal hyperintense neurofibromas on T2- weighted MR images, and the distal phalanges are not the most heavily affected (19). Neurofibromatosis also is associated with a familial prevalence. Lymphangiomato- sis grossly presents with limb swelling accompanied with pitting edema. MR imaging reveals lesions that are hy- perintense to muscle on T1-weighted images and hyper- intense to fat on T2-weighted images (15). Hemagioma- tosis presents with MR imaging that is hyperintense to vasculature and clinically might project an appreciable bruit. Klippel-Trenaunay-Weber syndrome consists of hemangiomas, arteriovenous fistulae, and limb hyper- trophy with MRI studies revealing intermittent areas of low and high signal representing sporadic deposits of calcium and hemosiderin (8, 15). Fibrolipomatosis of the nerve is differentiated by MRI studies that reveal fatty deposits within the nerve sheath, causing marked enlargement of the nerve itself. Maffucci’s syndrome can cause macrodactyly; however, it is characterized by benign enlargements of cartilage (enchondromas), bone deformities, and dark, irregularly shaped hemangiomas. Ollier’s disease predominantly involves the cartilage and often encompasses various parts of the skeletal body. It is not restricted to a synchronous single extremity. Other overgrowth syndromes have been attributed to germline mutations such as Beckwith Wiedemann syndrome and Proteus syndrome. This could possibly suggest that there exists an undiscovered germline mutation leading to macrodactyly of an affected extremity (20, 21). Cosmetic abnormalities remain a significant reason for surgical intervention in the treatment of mac- rodystrophia lipomatosa. Bony-growth-resembling osteophytes may lead to degenerative changes in joints, warranting operative removal for symptomatic relief. The slanting of articular surfaces leading to secondary joint disease curbs mobility by retarding joint movement and must be addressed. Furthermore, the asymmetric nature of the disease prohibits normal activity, particu- larly in the child population, where posture and gait are exceedingly impressionable and sensitive. Interestingly, although surgical intervention may improve immedi- ate symptoms and fix cosmetic deformities, disease often recurs in the affected extremity. The literature has described proximal involvement of the affected extrem- ity following distal amputation (9, 22). Liposuction has been used in attempts to “debulk” the fatty adipose RCR Radiology Case Reports | radiology.casereports.net 4 DOI: 10.2484/rcr.2008.v3i4.92 Macrodystrophia Lipomatosa: A Troubled Second Big Toe References 1. Barsky AJ. Macrodactyly. J Bone Joint Surg Am. 1967;49:1255-66. [PubMed] 2. Brodwater BK, Major NM, Goldner RD, Layfield LJ. Macrodystrophia lipomatosa with associated fibrolipom- atous hamartoma of the median nerve. Pediatr Surg Int. 2000;16:216-8. [PubMed] 3. Silverman TA, Enzinger FM. Fibrolipomatous hama- rtoma of nerve. A clinicopathologic analysis of 26 cases. Am J Surg Pathol. 1985;9(1):7-14. [PubMed] 4. Feriz H. Macrodystrophia lipomatosa progres- siva. 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Br. J Dermatol. 2006;154:1194-8. [PubMed] RCR Radiology Case Reports | radiology.casereports.net 5 DOI: 10.2484/rcr.2008.v3i4.92 Macrodystrophia Lipomatosa: A Troubled Second Big Toe 22. Bailey EJ, Thompson FM, Bohne W, Dyal C. Mac- rodystrophia lipomatosa of the foot: a report of three cases and literature review. Foot Ankle Int. 1997;18:89- 93. [PubMed] Macrodystrophia Lipomatosa: A troubled second big toe Introduction Case Report Discussion References