Lipomas: genetic basis of common skin lesions
and their occurrence in rare diseases

Dorota Marzyńska; Ryszard Żaba; Katarzyna Lacka

doi:10.5114/ada.2023.129529

eISSN: 2299-0046
ISSN: 1642-395X

Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii

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abstract:

Review paper

Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases

Dorota Marzyńska

¹

,

Ryszard Żaba

²

,

Katarzyna Lacka

³

Student’s Scientific Circle at the Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland
Department of Dermatology and Venereology, Poznan University of Medical Sciences, Poznan, Poland
Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland

Adv Dermatol Allergol 2023; XL (4): 481-486

DOI: https://doi.org/10.5114/ada.2023.129529

Online publish date: 2023/07/15

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Lipomas are usually sporadic, asymptomatic lesions, and their clinical and histologic presentation does not pose diagnostic difficulties. In ambiguous cases, however, knowledge of genetics is necessary. HMGA2 expression in adipose cells enables the differentiation of normal adipose tissue from lipoma and liposarcoma. Moreover, lipomas can be associated with genetic diseases, such as multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson’s disease, or mitochondrial diseases. Lipomas can run in families (familial multiple lipomatosis) or be a part of genetic syndromes such as PTEN hamartoma tumor syndrome, Proteus syndrome, and Pai syndrome. This study aims to present the genetic basis of lipomas and diseases in which these lesions occur in the clinical picture.

keywords:

Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases

Dorota Marzyńska 1 , Ryszard Żaba 2 , Katarzyna Lacka 3

lipoma, HMGA2, Dercum’s disease, orphan diseases

Dorota Marzyńska

¹

,

Ryszard Żaba

²

,

Katarzyna Lacka

³