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

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 lipom...

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Detalles Bibliográficos
Autores principales: Marzyńska, Dorota, Żaba, Ryszard, Lacka, Katarzyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485760/
https://www.ncbi.nlm.nih.gov/pubmed/37692275
http://dx.doi.org/10.5114/ada.2023.129529
Descripción
Sumario: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.