Journal of Plastic Surgery and Hand Surgery
ISSN: 2000-656X (Print) 2000-6764 (Online) Journal homepage: http://www.tandfonline.com/loi/iphs20
Lipomatous tumours of the face in infants: diagnosis and treatment Linnea Langhans, Susanne Christiansen Frevert & Mikael Andersen To cite this article: Linnea Langhans, Susanne Christiansen Frevert & Mikael Andersen (2015) Lipomatous tumours of the face in infants: diagnosis and treatment, Journal of Plastic Surgery and Hand Surgery, 49:5, 260-264, DOI: 10.3109/2000656X.2015.1034725 To link to this article: http://dx.doi.org/10.3109/2000656X.2015.1034725
Published online: 09 Apr 2015.
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J Plast Surg Hand Surg, 2015; 49: 260–264 © 2015 Informa Healthcare ISSN: 2000-656X print / 2000-6764 online DOI: 10.3109/2000656X.2015.1034725
REVIEW ARTICLE
Lipomatous tumours of the face in infants: diagnosis and treatment Linnea Langhans1, Susanne Christiansen Frevert2 & Mikael Andersen1 Department of Plastic Surgery, Breast Surgery and Burns Treatment and 2Department of Radiology, Copenhagen National Hospital, Copenhagen, Denmark
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Abstract Purpose: The aim of this review is to present the different lipomatous tumours of the face typically found in infants. Lipomatous tumours induce a diagnostic challenge due to the low frequency, and the fact that the different lipomatous tumours mimic each other. Method: This study developed a flowchart for use in the evaluation of these tumours, including congenital infiltrating lipomatosis of the face, lipoblastomas, and liposarcomas. Results and conclusions: The clinical presentation, histological features, imaging characteristics and treatment options are covered. It is suggested that a careful clinical examination is followed by magnetic resonance imaging. A histological analysis is often necessary to establish a definitive diagnosis, and a core needle biopsy is preferred in regards to sampling. Surgery is the treatment of choice, and should be performed by multidisciplinary teams in highly experienced centres. Individual surgical planning is mandatory. Key Words: Congenital infiltrating lipomatosis of the face, lipoblastoma, liposarcoma, infants
Introduction The presence of asymmetry and distortion of the face in an infant due to a lipomatous tumour is a rare condition. The clinical presentation induces a diagnostic challenge, since physicians rarely encounter these patients, and the fact that the different lipomatous tumours mimic each other. Additionally, lipomatous tumours are often mistaken for vascular or lymphatic lesions, which are more common [1,2]. Clinical examination and medical history may lead to a preliminary diagnosis based on the presence of certain clinical findings. Imaging modalities are useful in differentiating between soft tissue tumours, but are less useful in differentiating between the individual lipomatous tumours [3-5]. Accurate diagnosis is important in order to provide the most appropriate surgical treatment, and assure optimum functional and cosmetic outcome. Lipomatous tumours account for only 7% of all soft tissue neoplasms in the first year of life. The majority are benign and composed of lipoblastomas and various types of lipomas, primarily located on the trunk [6,7]. The rarity of the different lipomatous tumours emphasises the need to provide physicians with a guide that is feasible in the diagnostic evaluation. In this review we focus on the lipomatous tumours of the face typically found in infants, highlighting the clinical presentation, histological features, imaging characteristics, and treatment options. Our aim is to develop a flowchart for use in the diagnostic evaluation. Adipose tissue The formation of adipose tissue occurs during the fifth month of foetal development. Mesenchymal stem cells differentiate into lipoblasts, which later proliferate and differentiate into immature
lipocytes that accumulate lipid and expand in size. The result is a mature monovacuolar lipocyte containing a large lipid droplet and a flattened peripherally located nucleus. Postnatal growth of adipose tissue happens mainly by lipoblasts differentiating into lipocytes contrary to growth in adolescence, which is primarily a result of individual enlargement of lipocytes. There are two types of adipose tissue: white adipose tissue and brown adipose tissue. Brown adipose tissue arises from a different cell line of lipoblasts, and the development is slightly different from that of white adipose tissue. Brown adipose tissue is well developed in infants, but with age it is turned into white adipose tissue. Consequently, white adipose tissue composes the majority of the adipose tissue in adults [8]. Tumours can emerge from both types of adipose tissue, but the development of the lipomatous tumours is not completely established [9]. Lipomatous tumours of the face Congenital infiltrating lipomatosis of the face Congenital infiltrating lipomatosis of the face (CIL-F) represents a distinct type of lipomatosis first described by Slavin et al. [9] in 1983. Since then, less than 60 cases have been reported [10]. CIL-F is characterised by a diffuse fatty infiltration of the facial soft tissue, generally noted at birth or shortly after. Lipomatosis refers to the diffuse infiltration contrary to a lipoma, which is often well-defined and encapsulated. No gender predilection or abnormal psychomotor development has been reported [11]. Several mechanisms including congenital cytomegalovirus infection, trauma, and alterations in chromosome 12 have been proposed, but the aetiology remains unknown [1,12]. Patients typically present with a unilateral swelling usually located in the middle and lower third of the face. The lesion
Correspondence: Miss Linnea Langhans, MD, Copenhagen National Hospital, Department of Plastic Surgery, Breast Surgery and Burns Treatment, Blegdamsvej 9, Copenhagen Ø, 2100 Denmark. E-mail: [email protected] (Received 31 October 2014; accepted 23 February 2015) Ó 2015 Informa Healthcare.
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Figure 1. An 11-month old female with CIL-F of the left side of the face.
Figure 2. An 11-month old female with CIL-F of the left side of the face.
slowly expands as the patient develops and it can reach a significant size, leading to severe distortion of the facial structures [13]. Rapid growth has been reported in some cases, especially in the first year of life [12]. The tumour is nontender, with poorly defined borders, and a relatively firm consistency on the clinical examination. In addition to pronounced facial asymmetry, other clinical findings include ipsilateral hemimacroglossia, upper lip ptosis, and faint cutaneous capillary stain of the cheek [13]. The overlying skin is sometimes unaffected. Other morphologic criteria are hypertrophy of adjacent bone and the oral mucosa (Figures 1 and 2) [9,12,13]. Underlying bone hypertrophy can be associated with anomalies in teeth eruption [11]. Histopathological features of CIL-F include adipose tissue composed of non-encapsulated mature lipocytes infiltrating adjacent muscle and soft tissue. Lipoblasts and malignant characteristics are absent. Fibrous elements and increased numbers of nerve bundles and vessels are present [9,13].
The condition can exist as two different types. The majority are termed lipoblastomas, and are generally superficially well-circumscribed tumours surrounded by a fibromembranous capsule. The clinical impression can resemble a simple encapsulated lipoma. A smaller proportion infiltrate adjacent soft tissue, and are usually located deeper than the above-mentioned. This proportion is considered diffuse and is termed lipoblastomatosis [7]. Clinically patients present with a painless slowly or rapidly growing mass. A rapid enlargement is especially found in the lipoblastomas of the head and neck [16]. Symptoms are often due to tumour compression of surrounding structures, and, depending on the location, nerve compression can be present [4]. Macroscopically these tumours are lobulated, soft, and with a smooth surface. The typical morphology of lipoblastomas characteristically demonstrates sheets of adipocytes separated by fibrovascular septa and myxoid areas with a plexiform vascular pattern and small primitive mesenchymal cells. Mitoses are rare and nuclear atypia is not seen [3,7]. Cytogenetic analyses have identified a characteristic rearrangement of the long arm on chromosome 8 (8q11-13) occurring in nearly 90% of the lipoblastomas [14,17].
Lipoblastoma and lipoblastomatosis Lipoblastomas are benign tumours occurring in infancy and early childhood, and close to 90% are diagnosed before the age of 3 years [14]. Lipoblastoma was initially described by Jaffe et al. [15] in 1926 as a tumour of immature fat cells, and less than 200 cases have been reported [4,5]. Lipoblastomas compose 30% of the lipomatous tumours in children. There is a predilection for the trunk and extremities, but 48 cases of paediatric lipoblastomas in the head and neck have been reported [16]. A male predominance is generally seen, but there is some inconsistency regarding this matter [4]. Lipoblastomas are not associated with any syndromes or conditions [7].
Liposarcomas Liposarcomas constitute less than 3% of the soft tissue sarcomas in the first 2 decades of life [14]. Liposarcomas generally occur in middle aged adults, with a peak incidence in the fifth to sixth decade of life. Liposarcomas have a predilection for the lower extremities; hence, liposarcomas of the face in infants are extremely rare [2]. Still it is very important to differentiate liposarcomas from benign lipomatous tumours before surgical
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262 L. Langhans et al. treatment is initiated. The clinical appearance is a progressively growing tumour resembling the benign infiltrating lipomatous tumours. Liposarcomas are classified into five different histological sub-types, of which myxoid liposarcoma is the one most commonly found in children [14,18]. Macroscopically, it is a soft multilobulated tumour with partial encapsulation and a gelatinous cut surface [18]. Histopathological analysis reveals primitive mesenchymal cells, monovacuolated signet ring cells, and multivacuolated lipoblasts in a rich myxoid stroma with a characteristic vascular pattern. Lobulation is incomplete and mature lipocytes may be present in the periphery. Normally these tumours harbour small round cells, besides lipoblasts and the myxoid stroma, with a small degree of atypia and very few mitoses. Round cell liposarcomas may sometimes show high mitotic activity [14]. Cytogenetic analyses demonstrate a distinctive translocation t(12;16)(q13;p11) and a FUS-DDIT3 gene fusion in 95% of myxoid liposarcomas [7,19,20]. Imaging modalities Magnetic resonance imaging (MRI) is the most valuable radiological technique in establishing the diagnosis of lipomatous tumours. Identification of fat within the tumour is diagnostic for lipomatous tumours and differentiate them from other soft tissue tumours and lymphatic or vascular malformations [1]. A biopsy performed prior to imaging can induce reactions in the tissue that may disturb the image. By guiding the biopsy to the most suspicious part of the lesion, imaging performed prior to this procedure can improve the quality of the obtained specimen [21]. Imaging modalities are very useful in assessing the exact location and extent of the lipomatous tumour, and MRI is particularly valuable in demonstrating the relation to adjacent anatomic structures. In children, MRI has become the modality of choice due to high quality images and lack of radiation [2].
Congenital infiltrating lipomatosis MRI can confirm the fatty nature of CIL-F, and demonstrate a diffuse lipomatous infiltration with increased thickness of the subcutaneous fat on the affected side (Figure 3). The lesion displays high signal intensity on T1- and T2-weighted MR images [11]. If a facial nerve encasement is present, MRI will illustrate this too. A careful clinical examination will reveal potential underlying bone hypertrophy, and computed tomography (CT) is a relevant supplement to MRI later on, when planning corrections of the bony structures. Especially threedimensional CT is useful in demonstrating asymmetry of the facial bones [11]. Despite the presence of typical clinical features, imaging is not always reliable in differentiating CIL-F from a liposarcoma [12]. Lipoblastoma and lipoblastomatosis Lipoblastomas appear as well-defined lobulated tumours on imaging, but the appearance depends on the amount of fat, in relation to the amount of myxoid stroma. Most lipoblastomas display high signal intensity on T1- and T2-weighted MR images, compatible with a predominance of fat. However, a lipoblastoma that contains a large proportion of myxoid stroma will demonstrate low signal intensities on T1-weighted images and high signal intensities on T2-weighted images [17]. If immature lipoblasts containing less fat are abundant in the tumour, it results in an intermediate signal intensity on T1-weighted MRI [16]. In contrast, a lipoblastoma with a large proportion of mature lipocytes may have an appearance similar to a lipoma [17]. On CT the fat in the lipoblastoma will appear as areas of low attenuation and signal intensity like that of subcutaneous adipose tissue. The most important differential diagnosis is myxoid liposarcoma; however, it is not possible to differentiate a lipoblastoma from a liposarcoma with current imaging modalities [2]. Liposarcomas Liposarcomas consist of less fat and more non-lipomatous elements which results in an heterogeneous appearance on MRI [2]. Although MRI has a high sensitivity identifying well-differentiated liposarcomas, its positive predictive value is extremely low. A lesion considered suspicious of liposarcoma is, therefore, more likely to represent a benign lipomatous tumour [21]. When a lipomatous tumour does not meet the diagnostic criteria of a lipoma, a presumptive diagnosis of malignancy may be suggested. Imaging modalities are useful in differentiating lipomatous tumours from other soft tissue tumours, but are less useful in differentiating the individual lipomatous tumours. MRI is valuable in surgical planning and postoperative surveillance.
Figure 3. MRI demonstrating a large infiltrating lipomatous tumour in an 11-month old female with CIL-F of the left side of the face.
Biopsy A histological analysis might be necessary due to the abovementioned difficulties in establishing a conclusive diagnosis on imaging. A biopsy requires enough representative material for histological analysis without simultaneously contaminating the nearby tissue, and should be performed if malignancy is suspected. Fine needle aspiration (FNA) is easy to perform and has low morbidity. However, FNA does not allow for evaluation of
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tissue architecture, and the specimen gained is not always enough to perform a supplementary cytogenetic analysis. FNA has a rather high incidence of non-diagnostic or false results in patients with lipomatous tumours [21]. Because of these disadvantages a core needle biopsy (CNB) is generally preferred, although performing a CNB in the facial region can be difficult because of nearby crucial anatomic structures [21]. If the histological analysis shows non-encapsulated mature lipocytes without the presence of lipoblasts or malignant cells, the diagnosis of CIL-F can be confirmed [1]. Simple lipomas show similar histological appearance and represent a differential diagnosis, but can be excluded based on imaging. Lipoblasts are seen in both lipoblastoma and myxoid liposarcoma and it might not be possible to distinguish these tumours microscopically. Lipoblasts are never present in CIL-F, and can, therefore, be excluded. Cytogenetic or molecular pathological analyses are useful in the case of lipoblastoma vs liposarcoma, since each tumour often presents with specific translocations [19].
recommended. If the tumour does not create any symptoms of nerve impingement, a “wait and see” policy might be an alternative to surgical treatment. A follow-up period of 3 years after surgical excision is recommended [5].
Treatment Surgery is regarded as the first choice in the treatment of the lipomatous tumours described here. Treatment should be performed by multidisciplinary teams in highly experienced centres. A careful assessment of tumour extent and relation to adjacent anatomical structures is of major importance, before surgical excision is performed.
Conclusion The diagnostic evaluation of lipomatous tumours of the face in infants should consist of a careful clinical examination. Distinctive clinical findings such as hypertrophy of the underlying bone and oral mucosa can lead to a preliminary diagnosis of CIL-F. However, the different tumours often mimic each other, and MRI should, therefore, follow the clinical examination. MRI can confirm the presence of a lipomatous tumour and its relation to adjacent tissue. CNB can be performed to distinguish CIL-F from lipoblastomas and liposarcomas. FNA is often inconclusive and, therefore, not recommended. Cytogenetic analyses can help differentiate between lipoblastoma and liposarcoma. The treatment of choice is surgery, and it should be performed by multidisciplinary teams in highly experienced centres (Figure 4). The timing and extent of the surgical procedure depends on the type of tumour, symptoms, and clinical findings. Prior to surgery, a careful assessment of the extent of tumour and its relation to adjacent anatomical structures is of major importance. Individual surgical planning is required for each patient. Comprehensive information regarding the condition should be given to the parents. They should be informed about the course of treatment, the relatively high recurrence rate, and a possible need for additional surgery later in life. The flowchart presented here can be applied in the diagnostic evaluation of lipomatous tumours, independent of the patients age.
CIL-F The timing of surgery has been debated over the years. Previously, early and aggressive surgical treatment was advised to control the infiltrative behaviour of CIL-F and to improve cosmetic appearance [9]. A more conservative approach has been recommended recently, with liposuction in the early phase, eventually followed by a wider resection [22]. The conservative approach is suggested to be maintained until the end of growth. Later in life surgical corrections of both soft tissue and bony structures may be performed. Due to hypertrophy of the bone, a mandibular resection can be necessary [23]. A different procedure commonly used in the treatment of CIL-F is superficial parotidectomy and extensive facial nerve dissection using an electrostimulator [12]. The overall objective is to alleviate the symptoms instead of a full eradication, since complete excision is next to impossible [13]. A high recurrence rate up to 62% has been reported, and, on average, patients have two or three operations performed [24]. Based on the extent of tumour, symptoms, and clinical findings, individual surgical planning is required for each patient. Lifelong follow-up might be necessary in these patients. Lipoblastoma and lipoblastomatosis A complete surgical excision without compromising function constitutes a curative treatment [4]. Lipoblastomas do not tend to recur if completely resected. This is contrary to lipoblastomatosis, which are more prone to recur because of the infiltrative nature. A total recurrence rate of 27% has been reported [16]. Generally a single surgical procedure is preferred, but, if the entire tumour cannot be safely excised, a staged approach is
Liposarcomas Liposarcomas of the head and neck are often treated with surgery alone. These tumours require a wide surgical excision with preferably 2 cm or more surrounding the macroscopic tumour. Chances of achieving this are low due to the delicate anatomy of the facial region, and, as a result, a relatively high frequency of positive surgical margins is seen [21]. However, reconstructive surgery including free tissue transfer enhances the possibility of a more extensive resection. The recurrence rate of liposarcoma in children varies from 8.3%–37%, and survival rates are reported to be between 47%–100% [2]. Often local infiltration of adjacent anatomic structures is identified, indicating that the patient has locally advanced disease at the time of diagnosis. In these patients chemotherapy or radiotherapy may compose the primary treatment [21].
A case of congenital infiltrating lipomatosis of the face An 11-month old female presented in our clinic with severe asymmetry and distortion of the face since birth. Clinical examination revealed a firm non-tender mass on the left side of the face, lip ptosis, a cutaneous capillary stain of cheek, and hypertrophy of the underlying bone and oral mucosa. FNA was inconclusive and taken before she was referred to our department. MRI demonstrated a large lipomatous tumour infiltrating the left parotid gland and surrounding soft tissue. Surgical excision was performed through an incision where most of the congenital nevus of the cheek was excised. The dissection
264 L. Langhans et al.
Tumor of the face in infants
Clinical examination
Liptomatous tumour
Imaging MRI, CT (hypertrophy of bones)
Other soft tissue tumours
Biopsy-histology
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Lipoblastoma/liposarcoma Various cells including lipoblasts
CIL-F Mature lipocytes, non lipoblasts
Cytogenetic analysis
Lipoblastoma (8q11–13)
Liposarcoma t (12;16) (q13;p11)
Treatment surgery (individual planning)
Figure 4. Flowchart for use in the diagnostic evaluation of lipomatous tumours of the face in infants.
was done in the superficial subcutaneous plane and down to the parotic and masseteric fascia, trying to remove the fat between these two layers in the cheek from the ear to the nasolabial fold. The second and first branch of the facial nerve was exposed and saved during the dissection. The diagnosis of CIL-F was confirmed on histological analysis. The postoperative result is characterised by less volume in the upper part of the face. The lower part of the face is still marked by distortion, lip ptosis, and excessive volume, mainly due to hypertrophy of the underlying bones. The treatment plan consists of liposuction in the lower part of the face in a year, followed by correction of the bony structures later in life (Figures 1,2,3). Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. References [1] Haloi AK, Ditchfield M, Penington A, Phillips R. Facial infiltrative lipomatosis. Pediatr Radiol 2006;36:1159–62. [2] Navarro OM, Laffan EE, Ngan BY. Pediatric soft-tissue tumors and pseudo-tumors: MR imaging features with pathologic correlation: part 1. Imaging approach, pseudotumors, vascular lesions, and adipocytic tumors. Radiographics 2009;29:887–906. [3] Dilley AV, Patel DL, Hicks MJ, Brandt ML. Lipoblastoma: pathophysiology and surgical management. J Pediatr Surg 2001; 36:229–31. [4] McVay MR, Keller JE, Wagner CW, et al. Surgical management of lipoblastoma. J Pediatr Surg 2006;41:1067–71. [5] Speer AL, Schofield DE, Wang KS, et al. Contemporary management of lipoblastoma. J Pediatr Surg 2008;43:1295–300. [6] Coffin CM, Dehner LP. Soft tissue tumors in first year of life: a report of 190 cases. Pediatr Pathol 1990;10:509–26. [7] Hicks J, Dilley A, Patel D, et al. Lipoblastoma and lipoblastomatosis in infancy and childhood: histopathologic, ultrastructural, and cytogenetic features. Ultrastruct Pathol 2001;25:321–33. [8] Geneser F. Histologi. Munksgaard Danmark; 2013: p. 241–7.
[9] Slavin SA, Baker DC, McCarthy JG, Mufarrij A. Congenital infiltrating lipomatosis of the face: clinicopathologic evaluation and treatment. Plast Reconstr Surg 1983;72:158–64. [10] Leunbach T, Thelle T. Congenital hemifacially infiltrating lipomatosis. Ugeskr Laeger 2013;175:2571–2. [11] Sahai S, Rajan S, Singh N, Arora H. Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature. Dentomaxillofac Radiol 2013;42:16128745. [12] Chen CM, Lo LJ, Wong HF. Congenital infiltrating lipomatosis of the face: case report and literature review. Chang Gung Med J 2002;25:194–200. [13] Keramidas T, Lagogiannis G, Vlachou V, Katsikeris N. Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature. J Craniomaxillofac Surg 2012;40: 750–6. [14] Coffin CM, Alaggio R. Adipose and myxoid tumors of childhood and adolescence. Pediatr Dev Pathol 2012;15:239–54. [15] Jaffe RH. Recurrent lipomatous tumors of the groin: Liposarcoma and lipoma pseudomyxomatodes. Arch Pathol 1926;1: 381–7. [16] Pham NS, Poirier B, Fuller SC, et al. Pediatric lipoblastoma in the head and neck: a systematic review of 48 reported cases. Int J Pediatr Otorhinolaryngol 2010;74:723–8. [17] Bruyeer E, Lemmerling M, Poorten VV, et al. Paediatric lipoblastoma in the head and neck: three cases and review of literature. Cancer Imaging 2012;12:484–7. [18] Miller GG, Yanchar NL, Magee JF, Blair GK. Lipoblastoma and liposarcoma in children: an analysis of 9 cases and a review of the literature. Can J Surg 1998;41:455–8. [19] Miller GG, Yanchar NL, Magee JF, Blair GK. Tumor karyotype differentiates lipoblastoma from liposarcoma. J Pediatr Surg 1997;32:1771–2. [20] Kabjorn GC, Stahlberg A, Engtrom K, et al. Cell senescence in myxoid/round cell liposarcoma. Sarcoma 2014;2014: 208786. [21] de Bree E, Karatzanis A, Hunt JL, et al. Lipomatous tumours of the head and neck: a spectrum of biological behaviour. Eur Arch Otorhinolaryngol 2015;272:1061–77.
ISSN: 2000-656X (Print) 2000-6764 (Online) Journal homepage: http://www.tandfonline.com/loi/iphs20
Lipomatous tumours of the face in infants: diagnosis and treatment Linnea Langhans, Susanne Christiansen Frevert & Mikael Andersen To cite this article: Linnea Langhans, Susanne Christiansen Frevert & Mikael Andersen (2015) Lipomatous tumours of the face in infants: diagnosis and treatment, Journal of Plastic Surgery and Hand Surgery, 49:5, 260-264, DOI: 10.3109/2000656X.2015.1034725 To link to this article: http://dx.doi.org/10.3109/2000656X.2015.1034725
Published online: 09 Apr 2015.
Submit your article to this journal
Article views: 46
View related articles
View Crossmark data
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iphs20 Download by: [University of Prince Edward Island]
Date: 05 November 2015, At: 17:58
J Plast Surg Hand Surg, 2015; 49: 260–264 © 2015 Informa Healthcare ISSN: 2000-656X print / 2000-6764 online DOI: 10.3109/2000656X.2015.1034725
REVIEW ARTICLE
Lipomatous tumours of the face in infants: diagnosis and treatment Linnea Langhans1, Susanne Christiansen Frevert2 & Mikael Andersen1 Department of Plastic Surgery, Breast Surgery and Burns Treatment and 2Department of Radiology, Copenhagen National Hospital, Copenhagen, Denmark
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1
Abstract Purpose: The aim of this review is to present the different lipomatous tumours of the face typically found in infants. Lipomatous tumours induce a diagnostic challenge due to the low frequency, and the fact that the different lipomatous tumours mimic each other. Method: This study developed a flowchart for use in the evaluation of these tumours, including congenital infiltrating lipomatosis of the face, lipoblastomas, and liposarcomas. Results and conclusions: The clinical presentation, histological features, imaging characteristics and treatment options are covered. It is suggested that a careful clinical examination is followed by magnetic resonance imaging. A histological analysis is often necessary to establish a definitive diagnosis, and a core needle biopsy is preferred in regards to sampling. Surgery is the treatment of choice, and should be performed by multidisciplinary teams in highly experienced centres. Individual surgical planning is mandatory. Key Words: Congenital infiltrating lipomatosis of the face, lipoblastoma, liposarcoma, infants
Introduction The presence of asymmetry and distortion of the face in an infant due to a lipomatous tumour is a rare condition. The clinical presentation induces a diagnostic challenge, since physicians rarely encounter these patients, and the fact that the different lipomatous tumours mimic each other. Additionally, lipomatous tumours are often mistaken for vascular or lymphatic lesions, which are more common [1,2]. Clinical examination and medical history may lead to a preliminary diagnosis based on the presence of certain clinical findings. Imaging modalities are useful in differentiating between soft tissue tumours, but are less useful in differentiating between the individual lipomatous tumours [3-5]. Accurate diagnosis is important in order to provide the most appropriate surgical treatment, and assure optimum functional and cosmetic outcome. Lipomatous tumours account for only 7% of all soft tissue neoplasms in the first year of life. The majority are benign and composed of lipoblastomas and various types of lipomas, primarily located on the trunk [6,7]. The rarity of the different lipomatous tumours emphasises the need to provide physicians with a guide that is feasible in the diagnostic evaluation. In this review we focus on the lipomatous tumours of the face typically found in infants, highlighting the clinical presentation, histological features, imaging characteristics, and treatment options. Our aim is to develop a flowchart for use in the diagnostic evaluation. Adipose tissue The formation of adipose tissue occurs during the fifth month of foetal development. Mesenchymal stem cells differentiate into lipoblasts, which later proliferate and differentiate into immature
lipocytes that accumulate lipid and expand in size. The result is a mature monovacuolar lipocyte containing a large lipid droplet and a flattened peripherally located nucleus. Postnatal growth of adipose tissue happens mainly by lipoblasts differentiating into lipocytes contrary to growth in adolescence, which is primarily a result of individual enlargement of lipocytes. There are two types of adipose tissue: white adipose tissue and brown adipose tissue. Brown adipose tissue arises from a different cell line of lipoblasts, and the development is slightly different from that of white adipose tissue. Brown adipose tissue is well developed in infants, but with age it is turned into white adipose tissue. Consequently, white adipose tissue composes the majority of the adipose tissue in adults [8]. Tumours can emerge from both types of adipose tissue, but the development of the lipomatous tumours is not completely established [9]. Lipomatous tumours of the face Congenital infiltrating lipomatosis of the face Congenital infiltrating lipomatosis of the face (CIL-F) represents a distinct type of lipomatosis first described by Slavin et al. [9] in 1983. Since then, less than 60 cases have been reported [10]. CIL-F is characterised by a diffuse fatty infiltration of the facial soft tissue, generally noted at birth or shortly after. Lipomatosis refers to the diffuse infiltration contrary to a lipoma, which is often well-defined and encapsulated. No gender predilection or abnormal psychomotor development has been reported [11]. Several mechanisms including congenital cytomegalovirus infection, trauma, and alterations in chromosome 12 have been proposed, but the aetiology remains unknown [1,12]. Patients typically present with a unilateral swelling usually located in the middle and lower third of the face. The lesion
Correspondence: Miss Linnea Langhans, MD, Copenhagen National Hospital, Department of Plastic Surgery, Breast Surgery and Burns Treatment, Blegdamsvej 9, Copenhagen Ø, 2100 Denmark. E-mail: [email protected] (Received 31 October 2014; accepted 23 February 2015) Ó 2015 Informa Healthcare.
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Figure 1. An 11-month old female with CIL-F of the left side of the face.
Figure 2. An 11-month old female with CIL-F of the left side of the face.
slowly expands as the patient develops and it can reach a significant size, leading to severe distortion of the facial structures [13]. Rapid growth has been reported in some cases, especially in the first year of life [12]. The tumour is nontender, with poorly defined borders, and a relatively firm consistency on the clinical examination. In addition to pronounced facial asymmetry, other clinical findings include ipsilateral hemimacroglossia, upper lip ptosis, and faint cutaneous capillary stain of the cheek [13]. The overlying skin is sometimes unaffected. Other morphologic criteria are hypertrophy of adjacent bone and the oral mucosa (Figures 1 and 2) [9,12,13]. Underlying bone hypertrophy can be associated with anomalies in teeth eruption [11]. Histopathological features of CIL-F include adipose tissue composed of non-encapsulated mature lipocytes infiltrating adjacent muscle and soft tissue. Lipoblasts and malignant characteristics are absent. Fibrous elements and increased numbers of nerve bundles and vessels are present [9,13].
The condition can exist as two different types. The majority are termed lipoblastomas, and are generally superficially well-circumscribed tumours surrounded by a fibromembranous capsule. The clinical impression can resemble a simple encapsulated lipoma. A smaller proportion infiltrate adjacent soft tissue, and are usually located deeper than the above-mentioned. This proportion is considered diffuse and is termed lipoblastomatosis [7]. Clinically patients present with a painless slowly or rapidly growing mass. A rapid enlargement is especially found in the lipoblastomas of the head and neck [16]. Symptoms are often due to tumour compression of surrounding structures, and, depending on the location, nerve compression can be present [4]. Macroscopically these tumours are lobulated, soft, and with a smooth surface. The typical morphology of lipoblastomas characteristically demonstrates sheets of adipocytes separated by fibrovascular septa and myxoid areas with a plexiform vascular pattern and small primitive mesenchymal cells. Mitoses are rare and nuclear atypia is not seen [3,7]. Cytogenetic analyses have identified a characteristic rearrangement of the long arm on chromosome 8 (8q11-13) occurring in nearly 90% of the lipoblastomas [14,17].
Lipoblastoma and lipoblastomatosis Lipoblastomas are benign tumours occurring in infancy and early childhood, and close to 90% are diagnosed before the age of 3 years [14]. Lipoblastoma was initially described by Jaffe et al. [15] in 1926 as a tumour of immature fat cells, and less than 200 cases have been reported [4,5]. Lipoblastomas compose 30% of the lipomatous tumours in children. There is a predilection for the trunk and extremities, but 48 cases of paediatric lipoblastomas in the head and neck have been reported [16]. A male predominance is generally seen, but there is some inconsistency regarding this matter [4]. Lipoblastomas are not associated with any syndromes or conditions [7].
Liposarcomas Liposarcomas constitute less than 3% of the soft tissue sarcomas in the first 2 decades of life [14]. Liposarcomas generally occur in middle aged adults, with a peak incidence in the fifth to sixth decade of life. Liposarcomas have a predilection for the lower extremities; hence, liposarcomas of the face in infants are extremely rare [2]. Still it is very important to differentiate liposarcomas from benign lipomatous tumours before surgical
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262 L. Langhans et al. treatment is initiated. The clinical appearance is a progressively growing tumour resembling the benign infiltrating lipomatous tumours. Liposarcomas are classified into five different histological sub-types, of which myxoid liposarcoma is the one most commonly found in children [14,18]. Macroscopically, it is a soft multilobulated tumour with partial encapsulation and a gelatinous cut surface [18]. Histopathological analysis reveals primitive mesenchymal cells, monovacuolated signet ring cells, and multivacuolated lipoblasts in a rich myxoid stroma with a characteristic vascular pattern. Lobulation is incomplete and mature lipocytes may be present in the periphery. Normally these tumours harbour small round cells, besides lipoblasts and the myxoid stroma, with a small degree of atypia and very few mitoses. Round cell liposarcomas may sometimes show high mitotic activity [14]. Cytogenetic analyses demonstrate a distinctive translocation t(12;16)(q13;p11) and a FUS-DDIT3 gene fusion in 95% of myxoid liposarcomas [7,19,20]. Imaging modalities Magnetic resonance imaging (MRI) is the most valuable radiological technique in establishing the diagnosis of lipomatous tumours. Identification of fat within the tumour is diagnostic for lipomatous tumours and differentiate them from other soft tissue tumours and lymphatic or vascular malformations [1]. A biopsy performed prior to imaging can induce reactions in the tissue that may disturb the image. By guiding the biopsy to the most suspicious part of the lesion, imaging performed prior to this procedure can improve the quality of the obtained specimen [21]. Imaging modalities are very useful in assessing the exact location and extent of the lipomatous tumour, and MRI is particularly valuable in demonstrating the relation to adjacent anatomic structures. In children, MRI has become the modality of choice due to high quality images and lack of radiation [2].
Congenital infiltrating lipomatosis MRI can confirm the fatty nature of CIL-F, and demonstrate a diffuse lipomatous infiltration with increased thickness of the subcutaneous fat on the affected side (Figure 3). The lesion displays high signal intensity on T1- and T2-weighted MR images [11]. If a facial nerve encasement is present, MRI will illustrate this too. A careful clinical examination will reveal potential underlying bone hypertrophy, and computed tomography (CT) is a relevant supplement to MRI later on, when planning corrections of the bony structures. Especially threedimensional CT is useful in demonstrating asymmetry of the facial bones [11]. Despite the presence of typical clinical features, imaging is not always reliable in differentiating CIL-F from a liposarcoma [12]. Lipoblastoma and lipoblastomatosis Lipoblastomas appear as well-defined lobulated tumours on imaging, but the appearance depends on the amount of fat, in relation to the amount of myxoid stroma. Most lipoblastomas display high signal intensity on T1- and T2-weighted MR images, compatible with a predominance of fat. However, a lipoblastoma that contains a large proportion of myxoid stroma will demonstrate low signal intensities on T1-weighted images and high signal intensities on T2-weighted images [17]. If immature lipoblasts containing less fat are abundant in the tumour, it results in an intermediate signal intensity on T1-weighted MRI [16]. In contrast, a lipoblastoma with a large proportion of mature lipocytes may have an appearance similar to a lipoma [17]. On CT the fat in the lipoblastoma will appear as areas of low attenuation and signal intensity like that of subcutaneous adipose tissue. The most important differential diagnosis is myxoid liposarcoma; however, it is not possible to differentiate a lipoblastoma from a liposarcoma with current imaging modalities [2]. Liposarcomas Liposarcomas consist of less fat and more non-lipomatous elements which results in an heterogeneous appearance on MRI [2]. Although MRI has a high sensitivity identifying well-differentiated liposarcomas, its positive predictive value is extremely low. A lesion considered suspicious of liposarcoma is, therefore, more likely to represent a benign lipomatous tumour [21]. When a lipomatous tumour does not meet the diagnostic criteria of a lipoma, a presumptive diagnosis of malignancy may be suggested. Imaging modalities are useful in differentiating lipomatous tumours from other soft tissue tumours, but are less useful in differentiating the individual lipomatous tumours. MRI is valuable in surgical planning and postoperative surveillance.
Figure 3. MRI demonstrating a large infiltrating lipomatous tumour in an 11-month old female with CIL-F of the left side of the face.
Biopsy A histological analysis might be necessary due to the abovementioned difficulties in establishing a conclusive diagnosis on imaging. A biopsy requires enough representative material for histological analysis without simultaneously contaminating the nearby tissue, and should be performed if malignancy is suspected. Fine needle aspiration (FNA) is easy to perform and has low morbidity. However, FNA does not allow for evaluation of
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tissue architecture, and the specimen gained is not always enough to perform a supplementary cytogenetic analysis. FNA has a rather high incidence of non-diagnostic or false results in patients with lipomatous tumours [21]. Because of these disadvantages a core needle biopsy (CNB) is generally preferred, although performing a CNB in the facial region can be difficult because of nearby crucial anatomic structures [21]. If the histological analysis shows non-encapsulated mature lipocytes without the presence of lipoblasts or malignant cells, the diagnosis of CIL-F can be confirmed [1]. Simple lipomas show similar histological appearance and represent a differential diagnosis, but can be excluded based on imaging. Lipoblasts are seen in both lipoblastoma and myxoid liposarcoma and it might not be possible to distinguish these tumours microscopically. Lipoblasts are never present in CIL-F, and can, therefore, be excluded. Cytogenetic or molecular pathological analyses are useful in the case of lipoblastoma vs liposarcoma, since each tumour often presents with specific translocations [19].
recommended. If the tumour does not create any symptoms of nerve impingement, a “wait and see” policy might be an alternative to surgical treatment. A follow-up period of 3 years after surgical excision is recommended [5].
Treatment Surgery is regarded as the first choice in the treatment of the lipomatous tumours described here. Treatment should be performed by multidisciplinary teams in highly experienced centres. A careful assessment of tumour extent and relation to adjacent anatomical structures is of major importance, before surgical excision is performed.
Conclusion The diagnostic evaluation of lipomatous tumours of the face in infants should consist of a careful clinical examination. Distinctive clinical findings such as hypertrophy of the underlying bone and oral mucosa can lead to a preliminary diagnosis of CIL-F. However, the different tumours often mimic each other, and MRI should, therefore, follow the clinical examination. MRI can confirm the presence of a lipomatous tumour and its relation to adjacent tissue. CNB can be performed to distinguish CIL-F from lipoblastomas and liposarcomas. FNA is often inconclusive and, therefore, not recommended. Cytogenetic analyses can help differentiate between lipoblastoma and liposarcoma. The treatment of choice is surgery, and it should be performed by multidisciplinary teams in highly experienced centres (Figure 4). The timing and extent of the surgical procedure depends on the type of tumour, symptoms, and clinical findings. Prior to surgery, a careful assessment of the extent of tumour and its relation to adjacent anatomical structures is of major importance. Individual surgical planning is required for each patient. Comprehensive information regarding the condition should be given to the parents. They should be informed about the course of treatment, the relatively high recurrence rate, and a possible need for additional surgery later in life. The flowchart presented here can be applied in the diagnostic evaluation of lipomatous tumours, independent of the patients age.
CIL-F The timing of surgery has been debated over the years. Previously, early and aggressive surgical treatment was advised to control the infiltrative behaviour of CIL-F and to improve cosmetic appearance [9]. A more conservative approach has been recommended recently, with liposuction in the early phase, eventually followed by a wider resection [22]. The conservative approach is suggested to be maintained until the end of growth. Later in life surgical corrections of both soft tissue and bony structures may be performed. Due to hypertrophy of the bone, a mandibular resection can be necessary [23]. A different procedure commonly used in the treatment of CIL-F is superficial parotidectomy and extensive facial nerve dissection using an electrostimulator [12]. The overall objective is to alleviate the symptoms instead of a full eradication, since complete excision is next to impossible [13]. A high recurrence rate up to 62% has been reported, and, on average, patients have two or three operations performed [24]. Based on the extent of tumour, symptoms, and clinical findings, individual surgical planning is required for each patient. Lifelong follow-up might be necessary in these patients. Lipoblastoma and lipoblastomatosis A complete surgical excision without compromising function constitutes a curative treatment [4]. Lipoblastomas do not tend to recur if completely resected. This is contrary to lipoblastomatosis, which are more prone to recur because of the infiltrative nature. A total recurrence rate of 27% has been reported [16]. Generally a single surgical procedure is preferred, but, if the entire tumour cannot be safely excised, a staged approach is
Liposarcomas Liposarcomas of the head and neck are often treated with surgery alone. These tumours require a wide surgical excision with preferably 2 cm or more surrounding the macroscopic tumour. Chances of achieving this are low due to the delicate anatomy of the facial region, and, as a result, a relatively high frequency of positive surgical margins is seen [21]. However, reconstructive surgery including free tissue transfer enhances the possibility of a more extensive resection. The recurrence rate of liposarcoma in children varies from 8.3%–37%, and survival rates are reported to be between 47%–100% [2]. Often local infiltration of adjacent anatomic structures is identified, indicating that the patient has locally advanced disease at the time of diagnosis. In these patients chemotherapy or radiotherapy may compose the primary treatment [21].
A case of congenital infiltrating lipomatosis of the face An 11-month old female presented in our clinic with severe asymmetry and distortion of the face since birth. Clinical examination revealed a firm non-tender mass on the left side of the face, lip ptosis, a cutaneous capillary stain of cheek, and hypertrophy of the underlying bone and oral mucosa. FNA was inconclusive and taken before she was referred to our department. MRI demonstrated a large lipomatous tumour infiltrating the left parotid gland and surrounding soft tissue. Surgical excision was performed through an incision where most of the congenital nevus of the cheek was excised. The dissection
264 L. Langhans et al.
Tumor of the face in infants
Clinical examination
Liptomatous tumour
Imaging MRI, CT (hypertrophy of bones)
Other soft tissue tumours
Biopsy-histology
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Lipoblastoma/liposarcoma Various cells including lipoblasts
CIL-F Mature lipocytes, non lipoblasts
Cytogenetic analysis
Lipoblastoma (8q11–13)
Liposarcoma t (12;16) (q13;p11)
Treatment surgery (individual planning)
Figure 4. Flowchart for use in the diagnostic evaluation of lipomatous tumours of the face in infants.
was done in the superficial subcutaneous plane and down to the parotic and masseteric fascia, trying to remove the fat between these two layers in the cheek from the ear to the nasolabial fold. The second and first branch of the facial nerve was exposed and saved during the dissection. The diagnosis of CIL-F was confirmed on histological analysis. The postoperative result is characterised by less volume in the upper part of the face. The lower part of the face is still marked by distortion, lip ptosis, and excessive volume, mainly due to hypertrophy of the underlying bones. The treatment plan consists of liposuction in the lower part of the face in a year, followed by correction of the bony structures later in life (Figures 1,2,3). Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. References [1] Haloi AK, Ditchfield M, Penington A, Phillips R. Facial infiltrative lipomatosis. Pediatr Radiol 2006;36:1159–62. [2] Navarro OM, Laffan EE, Ngan BY. Pediatric soft-tissue tumors and pseudo-tumors: MR imaging features with pathologic correlation: part 1. Imaging approach, pseudotumors, vascular lesions, and adipocytic tumors. Radiographics 2009;29:887–906. [3] Dilley AV, Patel DL, Hicks MJ, Brandt ML. Lipoblastoma: pathophysiology and surgical management. J Pediatr Surg 2001; 36:229–31. [4] McVay MR, Keller JE, Wagner CW, et al. Surgical management of lipoblastoma. J Pediatr Surg 2006;41:1067–71. [5] Speer AL, Schofield DE, Wang KS, et al. Contemporary management of lipoblastoma. J Pediatr Surg 2008;43:1295–300. [6] Coffin CM, Dehner LP. Soft tissue tumors in first year of life: a report of 190 cases. Pediatr Pathol 1990;10:509–26. [7] Hicks J, Dilley A, Patel D, et al. Lipoblastoma and lipoblastomatosis in infancy and childhood: histopathologic, ultrastructural, and cytogenetic features. Ultrastruct Pathol 2001;25:321–33. [8] Geneser F. Histologi. Munksgaard Danmark; 2013: p. 241–7.
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