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Familial multiple lipomatosis
Davut Keskin1, Naci Ezirmik, Hakan Celik
1Department of Orthopaedics and Traumatology, Medical School of Atatürk University, Erzurum Turkey. keskind@atauni.edu.tr
The Israel Medical Association Journal : IMAJ
|January 9, 2003
Summary
Familial multiple lipomatosis (FML) is inherited in an autosomal dominant pattern. Early-onset lipomas can be numerous, large, and may require surgical excision.
Area of Science:
- Genetics
- Dermatology
- Medical Science
Background:
- Familial multiple lipomatosis (FML) is an exceptionally rare genetic disorder.
- While often asymptomatic, large or numerous lipomas can impede daily physical activities.
- Autosomal dominant inheritance is common, though recessive forms have been documented.
Purpose of the Study:
- To investigate the inheritance pattern of familial multiple lipomatosis (FML) within a large, three-generation family.
- To analyze the clinical presentation and genetic transmission of FML in a comprehensive family study.
Main Methods:
- Conducted a detailed family-tree analysis of 83 members across three generations.
- Performed physical examinations on all living family members.
- Conducted laboratory investigations including lipid profiles, blood counts, and organ function tests for affected individuals.
Main Results:
- No consanguineous unions were identified within the family.
- The index patient presented with lipomas on the neck, with affected offspring and grandchildren observed.
- All laboratory test results for patients with FML were within normal ranges.
Conclusions:
- The study confirms autosomal dominant inheritance for familial multiple lipomatosis (FML) in this family.
- Early-onset lipomas in FML can be extensive, diffuse, and may necessitate surgical intervention.