Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

Tadisina, Kashyap Komarraju; Mlynek, Karolina; Hwang, Lyahn K.; Riazi, Hooman; Papay, Francis

doi:10.1007/s00266-015-0478-8

Cited by 36 publications

(24 citation statements)

References 61 publications

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“…The hematoxylin-eosin staining did not show any differences between the affected and unaffected fatty tissue. This agrees with the findings of some case reports, where macroscopically regular lobulated adipose tissue without any abnormalities was described in samples of affected fatty tissue from MSL patients [12][13][14]. Although Agostini et al [15] compared affected adipose tissue with unaffected adipose tissue in one patient with MSL and described dystrophic adipocytes with significantly enlarged fat vacuoles (30%) in the affected tissue, Pollock et al [16] described a diffuse spread of adipose tissue along nerve vein sheaths as well as in muscle compartments.…”

Section: Discussionsupporting

confidence: 92%

Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat

et al. 2020

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Introduction Multiple symmetric lipomatosis (MSL) (syn.: Launois-Bensaude Syndrome, benign symmetric lipomatosis) is a rare disease of fatty tissue. The pathophysiology of MSL still remains unclear, although several approaches have been described in order to understand it. Beside morphological characteristics and some molecular cell biological approaches, little is known about the histological and immunohistochemical characterization of adipose tissue from patients with MSL. Methods From the 45 patients with MSL in our database, 10 were included in the study. Fat tissue samples were collected from affected and unaffected areas. The forearm served as a control area as this area is not affected in MSL. The specimens were analyzed after selected stainings were taken (hematoxylin-eosin = HE, Elastica van Gieson,

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Section: Discussionsupporting

confidence: 92%

Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat

et al. 2020

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“…We observed that there is a common misconception about the classification and diagnosis of different types of lipomatosis. 7,10,15 Several authors emphasize that men have a high tendency to present multiple lipomas, 11,29,30 however, our results show an apparent high frequency of FML in females. It is possible that this finding merely reflects a selection bias due to small sample size, or may also be explained by the fact that women are more likely to seek health medical care because of cosmetic concerns.…”

Section: Discussionmentioning

confidence: 47%

“…6,8,13,14 It has been widely held that this disorder exhibit a preference for males, however, a large number of works demonstrate that both sexes are equally affected. [15][16][17] Although it is considered a benign disease, cosmetic concerns may appear in some individuals, impairing their quality of life. Moreover, it is also prevalent in obese individuals.…”

Section: Introductionmentioning

confidence: 99%

<p>Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the <em>HMGA2</em> Gene</p>

Granados

Baptista

Bonadia

et al. 2020

CCID

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Background: Familial multiple lipomatosis (FML) is an autosomal dominant disorder characterized by the slow growth of encapsulated nodules spread across the trunk and limbs. Currently, there is no specific etiology; therefore, its molecular and biological bases need to be better understood. High-throughput sequencing technologies appear to be a costeffective tool and have a pivotal role in elucidating different genodermatoses.Objective: This study aimed to perform a clinical and molecular characterization of constitutional DNA of seven individuals belonging to five unrelated families diagnosed with FML. Patients and methods: Clinical aspects were obtained from medical records and physical examination. HMGA2 gene was investigated using Sanger sequencing method. Mutational analysis of other genes associated with syndromic lipomatosis AKT1, APC, PIK3CA, MEN-1, and PTEN was performed through next-generation sequencing. Results: In this series, FML was predominant among women who were overweight and reaching the age of thirty and was associated with gastrointestinal comorbidity. Histopathological diagnosis of biopsies revealed typical features of both lipoma and angiolipoma. We identified two identical novel variants with unknown significance in exon 5 of the HMGA2 gene in two participants of different families. There were no additional changes in exons 1 to 4 of the HMGA2 gene. Multi-gene panel was normal in all cases. Conclusion: Variants found in exon 5 of the HMGA2 gene have not been described and have an uncertain significance in the genesis of FML. Further studies, including a more significant number of affected individuals and functional analysis of the novel variants of HGMA2 gene, should be undertaken to better understand its biological role in FML.

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“…Its clinical features depend on location which basically gives aesthetic concerns and sometimes functional impairments from pressure effects in head and neck region (Ethunandan et al, 2006). Less than 5% of patients present with multiple lipomas termed lipomatosis which could be syndromic or sporadic (Tadisina et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Head and neck lipomas: A clinicopathologic analysis of 36 cases

Aregbesola¹,

Famurewa²,

Soyele³

et al. 2019

J. Cancer Res. Exp. Oncol.

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Lipomas are common benign soft tissue tumors, with 15 to 20% of the cases affecting the head and neck region and 1 to 4% involving the oral cavity. The literature has many reported cases of head and neck lipoma but few comprehensive studies hence, the aim of this study was to review and analyze the clinical and histopathologic features of head and neck lipomas in Nigerians. A fifteen-year retrospective study evaluated thirty-six cases of head and neck lipomas among Nigerians. Head and neck lipomas constituted about one-tenth (9.4%) of the total body lipomas seen over the study period. The peak age incidence was fifth decade of life and most (58.3%) of these patients were older than 40 years. There was male gender predilection with male to female ratio of 1.4:1. The most common site of occurrence was forehead (41.7%), followed by scalp and cheek (16.7% each). Lipomas were seen in two intraoral locations (lip and tongue) and these accounted for 13.9% of the head and neck lipomas and 1.3% of lipomas in the whole body. The average size of the lesion was 3.3 cm. Head and neck lipomas are fairly common among Nigerians who are more than 40 years of age. While the conventional and fibrolipoma were the two histologic variants recorded, complete surgical excision of the lesion offered satisfactory treatment outcome.

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Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

Cited by 36 publications

References 61 publications

Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat

Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat

<p>Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the <em>HMGA2</em> Gene</p>

Head and neck lipomas: A clinicopathologic analysis of 36 cases

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