Aesth Plast Surg (2015) 39:440–448 DOI 10.1007/s00266-015-0478-8
REVIEW
EXPERIMENTAL/SPECIAL TOPICS
Syndromic Lipomatosis of the Head and Neck: A Review of the Literature Kashyap Komarraju Tadisina1 • Karolina S. Mlynek1 • Lyahn K. Hwang1 Hooman Riazi1 • Francis A. Papay1 • James E. Zins1
•
Received: 19 November 2014 / Accepted: 16 March 2015 / Published online: 10 April 2015 Ó Springer Science+Business Media New York and International Society of Aesthetic Plastic Surgery 2015
Abstract Introduction Patients with syndromic causes of lipomatosis of the head and neck, although rare, often present late in the course of the disease in a myriad of ways, including concomitant airway obstruction, severe functional limitations, and/or significant cosmetic defects. The goal of this report was to review the literature and present a concise overview of the major syndromes causing lipomatosis of the head and neck. Methods A literature search was performed to gather information on syndromic lipomatosis of the head and neck region. PubMed was searched for the following conditions: Familial multiple lipomatosis (FML), multiple symmetrical lipomatosis (MSL), congenital infiltrating lipomatosis of the face (CIL-F), and Nasopalpebral lipoma–coloboma syndrome (NLCS). Data gathered included results of surgical cases of the head and neck region. Results A total of 48 reports comprising 172 cases of syndromic lipomatosis of the head and neck region were deemed eligible for review. Eighty-five percent of patients were male with an average age of 35 years. Seventy-four percent of cases appeared in the neck region, whereas 23 % presented in the face and scalp. 89 % of cases were treated with surgical excision, with 11 % of cases treated with liposuction. The most common complications were
Kashyap Komarraju Tadisina and Karolina S. Mlynek are co-first authors. & James E. Zins
[email protected] 1
Department of Plastic Surgery, Cleveland Clinic Lerner College of Medicine, 9500 Euclid Ave, Suite A60, Cleveland, OH 44195, USA
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hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. Conclusions Syndromic causes of lipomatosis are generally benign in nature but difficult to control long term. Because these conditions include frequent recurrence and subsequent difficulty in clearing the disease, the authors advocate early and aggressive surgical excision of syndromic lipomatosis. No Level Assigned This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266. Keywords Lipomatous disorder Madelung’s disease Multiple symmetrical lipomatosis Familial multiple lipomatosis Congenital infiltrating lipomatosis Nasopalpebral lipoma–coloboma syndrome
Introduction While lipomas are perhaps the most common soft tissue tumors, variants of systemic lipomatosis are much rarer. Management of patients with lipomatosis typically involves careful surgical planning, resection, and regular follow-up. Patients with syndromic causes often present late in the course of the disease in a myriad of ways, including concomitant airway obstruction, severe functional limitations, and/or significant cosmetic defects of the head and neck. Patients characteristically require multiple
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operations over the course of their disease, and while the disease is benign, local control is often difficult to attain. Although the literature is replete with case reports and small case series describing these disorders, there is a lack of comprehensive literature comparing and differentiating these lipomatosis conditions, their natural history, clinical presentation, and subsequent management. In addition, differentiating one disease from the other can be difficult because of the similarities in their condition. Knowledge of the full range of underlying conditions that cause syndromic lipomatosis will allow plastic surgeons and surgeons of other specialties to optimize treatment and surgical intervention when necessary for these patients. The goal of this report was to 1.
2.
Review the literature and present a concise overview of the major syndromes causing lipomatosis of the head and neck. Highlight and differentiate the clinically significant features and subsequent management of those syndromic lipomatoses.
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Results A total of 48 reports comprising 172 cases of syndromic lipomatosis of the head and neck region were deemed eligible for review. The overwhelming majority of patients were male (85 %) with an average age of 35 years. All six patients with airway lesions either presented with dysphagia or dyspnea. Seventy-four percent of cases appeared in the neck region, whereas 23 % presented in the face and scalp. The imaging modality of choice was computed tomography (CT). It was used solely in 42 % of cases and in combination with magnetic resonance imaging (MRI) in another 15 % of cases. In terms of surgical technique, 89 % of cases were treated with surgical excision/resection, with 11 % of cases treated with liposuction. The overall complication rate was found to be 10 %. The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. The rate of recurrence was not recorded as follow-up times across studies were not uniform, and incidence of recurrence was explicitly available in only a minority of reports.
Methods Discussion A literature search of reports published from May 2004 through May 2014 was performed to gather information on syndromic lipomatosis of the head and neck region. This search yielded a total of four syndromes causing primarily head and neck lipomatosis. Limitation to the head and neck region excluded other prominent lipomatous syndromes such as Dercum’s disease, lipedema, Cowden, and Bannayan-Riley-Ruvalcaba syndromes, which can severely affect the trunk and extremities of patients. The database of the National Library of Medicine (PubMed) was searched using the following keywords: Launois–Bensaude AND head and Launois–Bensaude AND neck. This same search protocol was executed for the following conditions: Launois–Bensaude syndrome (L–B), multiple symmetrical lipomatosis (MSL), Madelung’s disease, familial multiple lipomatosis (FML), congenital infiltrating lipomatosis of the face (CIL-F), and Nasopalpebral lipoma–coloboma syndrome (NLCS). An additional search was performed using the phrase syndromic lipomatosis, lipomatosis syndrome head, and lipomatosis syndrome neck. The references cited in selected articles were also reviewed to find any additional literature that was pertinent to the study. Finally, this review included results of surgical cases that reported syndromic lipomatosis of the head and neck region along with relevant background papers. This search was limited to research published in the English language. Results of the search are displayed in Table 1.
Familial Multiple Lipomatosis [1–10] Familial multiple lipomatosis (FML) is a predominantly autosomal dominant hereditary syndrome that usually presents with multiple, discrete, encapsulated lipomas found on the trunk, extremities, and occasionally in the neck and shoulders [1]. FML is a very rare disease with a reported incidence of 0.002 % and an increased prevalence in men, which was confirmed by our review (76 % male). Genetic tests have demonstrated that a translocation between the protein, isoform I-C on chromosome 12, and the partner gene on chromosome 3 could be responsible for this condition [2]. Clinically, these lipomas usually present from the 3rd to 5th decade of life, are painless, and may have an associated family history (Figs. 1 and 2a). They present as solitary lesions or in clusters of over 100 lesions [3], with sizes varying from a few millimeters in diameter to 25 centimeters, resembling ‘‘a bunch of grapes’’ [2, 4]. Features that distinguish FML from MSL are its relative lack of occurrence in the neck and shoulders, as well as its wellcircumscribed nature [5]. However, diagnosis of lipomatosis is often late in the course of disease and purely clinical in nature, so there could be an overlap between syndromes and mischaracterization of lesions. A case such as the one in Figs. 1 and 2 could also be characterized as
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Table 1 Summary of syndromic lipomatosis literature search Search terms
PubMed results
Inclusion criteria
Exclusion criteria
# Of relevant, new articles
Additional literature from references
Total # of references
‘Launois–Bensaude’ and ‘head’
3
Case reports
Not English
3
14
38
‘Launois–Bensaude’ and ‘neck’
10
Case series
‘MSL’ and ‘head’
23
Last 10 years (2004–2014)
Not involving head or neck
9
0
‘MSL’ and ‘neck
64
‘Madelung’s disease’ and ‘head’
27
0
‘Madelung’s disease’ and ‘neck’
66
1
‘FML’ and ‘head’ ‘FML’ and ‘neck’
1 7
0 1
9
9
‘CIL-F’ and ‘head’
16
7
12
21
‘CIL-F’ and ‘neck’
6
2
‘NLCS’ and ‘head’
5
1
5
6
‘NLCS’ and ‘neck’
0
0
Fig. 1 This 52-year-old patient and his father both presented with cases of familial multiple lipomatosis (FML) of the neck
MSL due to its distribution in the neck and shoulders. FML is a benign condition, with no recorded cases of conversion to liposarcoma. However, although extremely rare, malignant transformations of benign lipomas outside of this syndrome have been documented. In these cases of liposarcoma, history of rapid tumor growth rate and any associated skin changes or lymphadenopathy must be noted by physicians. In FML, diagnostic imaging may help evaluate borders and dimensions of the tumor, with CT imaging being the most utilized modality. The gross appearance of typical lesions is that of clustered adipose tissue, with significant areas of fibrosis (Fig. 3). Pathological biopsy is the most definitive test, which will show findings of spindle cell lipoma [3], pleomorphic lipoma, or
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11
Fig. 2 The patient from Fig. 1, with significant lipomatous growth of the neck region, a relatively rare occurrence in FML. a and c are preoperative oblique views, and b and d are oblique views 6 months post-operatively
angiolipomas in the benign condition. Hence, a diagnosis of FML can be made, if a patient has one or multiple discrete lipomas with a positive family history, in addition to biopsy findings of benign lipomatosis without indications for malignancy [6, 7]. Standard treatment for FML is surgical excision (Fig. 2b) because these patients often present late, and total excision may be difficult and recurrence likely. Liposuction-assisted surgical excision has been described for extremely minor cases [8, 9]. However based on our experience, the optimal technique to treat lipomatosis is aggressive surgical excision. The relevant features of FML are summarized in Table 2.
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Fig. 3 Gross view of fibro-adipose tissue excised from the patient in Fig. 2 with familial multiple lipomatosis. Arrow indicates cephalad direction Fig. 4 This 46-year-old patient’s presentation of Madelung’s disease, with a giant lipomatous lesion on the posterior neck. A 10 9 15 cm mass was removed, pathologic diagnosis benign lipomatous proliferation, and the patient has reported significant relief of symptoms. a and c are pre-operative profile views, and b and d are profile views 3 months post-operatively
Multiple Symmetrical Lipomatosis (Madelung’s Disease or Launois–Bensaude Syndrome) [11–46] Multiple symmetric lipomatosis (MSL) is another rare disorder characterized by unencapsulated, subcutaneous fatty deposits involving mainly the head, anterior and posterior neck, upper torso, and upper extremities [11, 12]. MSL has been referred to by other names, most commonly Madelung’s disease, Launois–Bensaude’s disease, and benign symmetrical lipomatosis [11]. Similar to FML, MSL also presents between the 3rd and 5th decade of life and is more common in males. Reported male to female ratios range from 15:1 to 30:1 [13], a finding confirmed by our review with 93 % of MSL patients being male. Although there might be a rare genetic predisposition, most cases are sporadic, with exact risk factors and pathophysiology still unknown. Current theories include an increase in lipoprotein lipase activity, reduction of adrenergic-stimulated lipolysis [14–16], mitochondrial DNA mutations [14, 15], or sympathetic denervation of the brown fat adipocytes leading to hypertrophy [14]. It is a challenge to diagnose MSL in today’s population, as it is commonly mistaken for simple obesity, as seen in
the patient displayed in Fig. 4. Diagnosis of MSL is otherwise made by a combination of physical exam, location, distribution of the adipose tissue, patient age, gender, and history of alcohol use. Our review found that 88 % of patients had a history of moderate to heavy alcohol use, although this was not the case in the patient represented in Fig. 4. Conversion to malignancy in MSL, although documented in the literature, is extremely rare. Patients with MSL can develop functional symptoms including dysphagia, odynophagia, or hoarseness as a result of fatty deposits compressing the cervical region [13]. CT and MRI imaging have been found to be useful for evaluation of the spread of adipose tissue, tracheal compression, vasculature within the adipose mass, and exclusion of malignancy [16– 18]. Biopsy can further confirm a suspected diagnosis. These measures are necessary as MSL can be confused with more severe conditions such as cushingoid syndromes, lymphoma, salivary gland disease, cystic hygroma,
Table 2 Familial multiple lipomatosis (FML) Inheritance pattern
Autosomal dominant
Gender predominance
Male
Presentation
Aged 30?, discrete, circumscribed painless lipomas in trunk, extremities, neck
Pathogenesis
Translocation
Diagnosis
Clinical, pathology, CT/MRI
Differential
Neurofibroma
Non-surgical management
Pain control
Surgical management
Complete excision, liposuction, liposuction-assisted surgical capsular extraction
Additional Findings
Angiolipoma subtype, more painful
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Table 3 Multiple symmetrical lipomatosis (MSL) Inheritance pattern
Most with no hereditary pattern
Gender Predominance
Male
Presentation Pathogenesis
Aged 30?, subcutaneous fatty deposits around head, neck, shoulders, upper trunk Dysfunction of signaling in brown adipocytes, impaired levels of catecholamines, rare mitochondrial dysfunction
Diagnosis
Clinical, pathology, CT/MRI
Differential
Obesity, Cushingoid syndromes, hyperthyroidism, angiolipoma, neurofibromatosis, hibernoma, dermal spindle cell lipoma, congenital infiltrating lipomatosis, myxoid liposarcoma, lymphoma, salivary glands disease, Dercum’s disease, lipoblastomatosis, liposystrophy, Frohlich syndrome, cystic hygroma, and branchiogenic cleft cyst
Non-surgical management
Abstinence from alcohol can help slow the progression; involution is rare
Surgical management
Lipectomy for severe disease, liposuction for mild disease
Additional findings
Polyneuropathy, hyperuricemia, gout, diabetes, glucose intolerance, liver disease, dyspnea, dysphagia, dysphonia
hyperthyroidism, or branchiogenic cleft cysts [19, 20]. MSL has also been associated with other disorders including obstructive sleep apnea, metabolic disorders, and polyneuropathy [19, 21–23]. Therefore, MSL is more than a cosmetic problem, and functional aspects of the disease should be considered for optimal management. Treatment for MSL is surgical, as it is the most efficacious method for reducing growths. Although transoral and transcervical approaches can be used for rare laryngeal lipomas [24], open surgical excision is preferred due to increased exposure, more precise debulking, and anatomical control [15, 25]. Although authors consider surgery as the only effective treatment, results are tempered due to the high recurrence rate and the difficulty in determining the resection limit. Similar to FML, the most common reported complications of surgical excision are hematoma and seroma formation. Recurrence over a period of months to years in the initial location as well as elsewhere is common. [26, 27]. The relevant features of MSL are summarized in Table 3. Congenital Infiltrating Lipomatosis of the Face [47–63] Congenital infiltrating lipomatosis of the face (CIL-F), also called facial infiltrating lipomatosis, is yet another rare disorder that is characterized by a collection of lipocytes with ill-defined borders that infiltrates muscle and soft
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tissue [47, 48] of the face. This is one of two disorders located exclusively in the face and the other being nasopalpebral lipoma–coloboma syndrome (NLCS). This CIL-F condition usually presents as either a rapidly progressive form with extensive enlargement occurring in early childhood (under 1 year) or a more indolent form with enlargement occurring over decades, with patients presenting for treatment in adulthood [49]. All cases reported in the literature have occurred in the first three decades of life [50], with our review yielding an average age of presentation as 17 years. Facial asymmetry at birth is a common clinical presentation of CIL-F [51]. Presence of lipomatous masses is always unilateral with enlargement of hard and soft structures on the affected side of the face [50]. Other associated clinical features include increased density of facial hair on the affected side, ipsilateral hemimacroglossia and eyelid ptosis, ipsilateral faint cutaneous capillary stain, a regional macrodentia, and early eruption of deciduous permanent teeth [51, 52]. The pathogenesis of CIL-F remains unclear [50], with current theories including mutation in the PIK3CA gene, leading to lipomatous change through trauma, chronic irradiation, muscular metaplasia, degenerative processes with fatty transformation, influence of hormones on multipotential cells, and alteration in chromosome 12 [51, 52]. CIL-F is at one end of a spectrum of overgrowth syndromes including Proteus syndrome, supporting the role of somatic mosaicism and sporadic occurrence with no age or sex predilection [53]. Although lesions affecting CIL-F patients usually appear benign, upon clinical examination they are commonly confused with well-differentiated liposarcoma [54, 55]. Imaging studies yield diffuse fatty infiltration of facial soft tissues [56–58]. Biopsy results reveal no malignant characteristics and range from non-encapsulated tumors containing mature fat cells, presence of fibrous elements, and hypertrophy of subjacent bone [59]. Upon initial presentation, a broad differential diagnosis including hemifacial hypertrophy, parotid tumors, liposarcoma, hamartomatous or overgrowth syndromes (i.e., Proteus syndrome), and lipoblastoma [60] must be considered due to the unique location and infiltration of the face. Treatment of CIL-F is primarily surgical and palliative in nature. Currently, there is a debate among craniofacial surgeons regarding the timing of operation. Some authors recommend wide and early local excision to prevent extensive infiltration. In contrast, others suggest that by delaying resection, the number of debulking procedures would diminish [48]. Delaying surgery appears to be ill advised, as delay will lead to the need for a more extensive procedure with added post-op risk. Tissue growth hormone may have a role in recurrences, and any mass reduction before adolescence is likely to regrow [57]. A post-
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Table 4 Congenital infiltrating lipomatosis of the face (CIL-F)
Table 5 Nasopalpebral lipoma–coloboma syndrome (NLCS)
Inheritance pattern
Autosomal dominant
Inheritance pattern
Autosomal dominant, sometimes sporadic
Gender predominance
None
Gender predominance
None
Presentation
At birth, unilateral hemifacial enlargement, diffuse fatty infiltration of facial soft tissues Unclear; possibly sporadic, spontaneous somatic mutation involving local increase in tissue growth factor (see text for other theories)
Pathogenesis
Diagnosis
Pathological; confirmed via MRI
Differential
Hemifacial hyperplasia, Lumphangioma, hemangioma, angiolipoma, neurofibromatosis, parotid tumors, liposarcoma, lipoblatomatosis
Non-surgical management
Anti-angiogenic agents/anti-inflammatory therapy, chemotherapy (in conjunction with excision)
Surgical management
Partial excision (complete not possible due to diffuse nature)
Additional findings
High post-resection recurrence rate because of diffuse infiltration; diagnosis remains challenging
resection recurrence rate of up to 62.5 % has been previously reported and is most likely due to diffuse infiltration [57, 58]. The relevant features of CIL-F are summarized in Table 4. Nasopalpebral Lipoma–Coloboma Syndrome [64–69] Nasopalpebral Lipoma–Coloboma Syndrome (NLCS) is an extremely rare, predominantly autosomal dominant disorder characterized by nasopalpebral lipomatous growth, accompanying eyelid colobomas, telecanthus, and maxillary hypoplasia [64]. This is the second of two syndromes presented where lipomatous growth is isolated to the face. In the 11 documented cases, patients were all children except for one 71-year-old patient, with an average age of 13 years of age. It is hypothesized that defective migration of neural crest cells is responsible for this condition [65]. While familial inheritance in a male to male pattern has been documented in early cases [66, 67], more recent cases have all been sporadic. Further, although this syndrome shares features with Goldenhar, Treacher Collins, Delleman syndrome, and Frontonasal dysplasia, it is the only one involving a lipoma. Initially, patients can present with visual impairment, chronic malnutrition, and recurrent respiratory tract infections. Further, additional presenting features include a broad forehead, widow’s peak, outflaring of the medial eyebrow, and malposition of the lacrimal punctae [65–67]. Additionally, other craniofacial features such as microtia, lens opacities, and non-ophthalmos have also been
Age of onset
Pediatric
Presentation
Nasopalpebral lipomas, eyelid colobomas, telecanthus
Pathogenesis
Translocation
Diagnosis
Pathological:
Differential
Neurofibroma
Non-surgical management
n/a
Surgical management
Lipoma excisions, coloboma closure, canthopexy, soft tissue correction
Additional findings
Related craniofacial findings likely
observed and must be screened for through a physical exam. NLCS is a benign disease, with no evidence in the literature of cases that transformed to liposarcoma. Imaging studies in these patients show normal bony anatomy and exclusively extracranial involvement with hypodense subcutaneous deposits that are indicative of lipomatous growth [65]. Definitive management consists of surgical correction of facial deformities [68]. Successful surgical technique involves a coronal approach with resection of the lipomas, coloboma correction, exploration of the lacrimal system, medial canthopexy to correct telecanthus, and excision of accessory skin in the nasoglabellar region [68]. Patients who have undergone surgical excision have tolerated the procedure well, and no cases of recurrence have been noted in the literature. The relevant features of NLCS are summarized in Table 5.
Conclusions Lipomas are among the most common soft tissue conditions and rarely indicate the potential for an underlying syndrome. This review summarizes the key clinical and diagnostic criteria, focusing exclusively on the head and neck regions. The conditions discussed here are generally benign in nature but difficult to control long term. Because the list includes frequent recurrence and the difficulty in clearing the disease, surgical therapy often requires multiple operations and may only be palliative in nature. Patients often present late in the course of their disease and may have accompanying symptoms that are both functionally and cosmetically debilitating. The authors advocate early and aggressive surgical excision of syndromic lipomatosis. The distinguishing and clinically relevant features are summarized in Fig. 5 as an algorithm for the differential diagnosis of lipomatosis of the head and neck. On occasion, differentiating one syndrome from the other may be difficult because they share many common
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Fig. 5 Algorithm for the differential diagnosis of syndromic lipomatosis of the head and neck
findings. However, it should be noted that the differential diagnosis does not seem to change the treatment of this condition. Differentiating the disease is perhaps more important from a genetic counseling standpoint as some of the syndromes are hereditary in nature. Conflicts of interest The authors declare that they have no conflicts of interest to disclose.
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