Below the Surface: Genetic Underpinnings and Clinical Manifestations of Familial Multiple Lipomatosis

Familial multiple lipomatosis is a rare genetic disorder marked by multiple benign lipomas, often causing cosmetic concerns and, less commonly, functional impairment. We report a 63-year-old man with more than 50 lipomas on his thighs, abdomen, and arms. His unique family history, with male-only penetrance along the maternal lineage, suggests a deviation from typical autosomal dominance, and a novel inheritance pattern that has never been reported on previously, to our knowledge, in the literature. This case and literature review highlights the diagnostic challenges of familial multiple lipomatosis and the need for a multidisciplinary approach involving surgical options, genetic counseling, and psychological support.

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Publication Details

Journal
Annals of Internal Medicine Clinical Cases
Published
2025-05-01
DOI
https://doi.org/10.7326/aimcc.2024.1221
Primary Topic
Genital Health and Disease
Type
article
Field-Weighted Citation Impact
0.00
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article

Below the Surface: Genetic Underpinnings and Clinical Manifestations of Familial Multiple Lipomatosis

Malik Alqawasmi, Eric Rightley
Annals of Internal Medicine Clinical Cases
Genital Health and Disease
article

Below the Surface: Genetic Underpinnings and Clinical Manifestations of Familial Multiple Lipomatosis

Malik Alqawasmi, Eric Rightley
article en

Abstract

Familial multiple lipomatosis is a rare genetic disorder marked by multiple benign lipomas, often causing cosmetic concerns and, less commonly, functional impairment. We report a 63-year-old man with more than 50 lipomas on his thighs, abdomen, and arms. His unique family history, with male-only penetrance along the maternal lineage, suggests a deviation from typical autosomal dominance, and a novel inheritance pattern that has never been reported on previously, to our knowledge, in the literature. This case and literature review highlights the diagnostic challenges of familial multiple lipomatosis and the need for a multidisciplinary approach involving surgical options, genetic counseling, and psychological support.

Annals of Internal Medicine Clinical CasesVol. 4(5)
University of New Mexico (US)
Openalex Percentile: Top 83%
Genital Health and Disease
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