ena-STUDY-UNIVERSITY OF CAMPINAS-02-10-2018-16:23:41:373-325
Familial Multiple Lipomatosis
Familial Multiple Lipomatosis (FML) is an autosomal dominant disorder of hypodermis characterized by the slow growth of encapsulated fatty nodules spread across the trunk and limbs. Middle age adults are commonly affected. Due to its aesthetic features, this disorder may overlap with other dermatological syndromes. The specific etiology has not been identified, therefore, its molecular and biological bases need to be better understood. High-throughput sequencing technologies appear to be a cost-effective tool and have a pivotal role in elucidating different genodermatoses. This study aimed to perform a clinical and molecular characterization of constitutional DNA of seven individuals belonging to five unrelated families diagnosed with FML. Clinical aspects were obtained from medical records and physical examination. The HMGA2 candidate gene was investigated using Sanger sequencing method. Mutational analysis of the genes associated with syndromic lipomatosis AKT1, APC, PIK3CA, MEN-1, and PTEN was performed through Next- Generation Sequencing. In this series, FML was higher among women with 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. Two identical novel variants were found 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.
Familial Multiple Lipomatosis (FML) is an autosomal dominant disorder of hypodermis characterized by the slow growth of encapsulated fatty nodules spread across the trunk and limbs. Middle age adults are commonly affected. Due to its aesthetic features, this disorder may overlap with other dermatological syndromes. The specific etiology has not been identified, therefore, its molecular and biological bases need to be better understood. High-throughput sequencing technologies appear to be a cost-effective tool and have a pivotal role in elucidating different genodermatoses. This study aimed to perform a clinical and molecular characterization of constitutional DNA of seven individuals belonging to five unrelated families diagnosed with FML. Clinical aspects were obtained from medical records and physical examination. The HMGA2 candidate gene was investigated using Sanger sequencing method. Mutational analysis of the genes associated with syndromic lipomatosis AKT1, APC, PIK3CA, MEN-1, and PTEN was performed through Next- Generation Sequencing. In this series, FML was higher among women with 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. Two identical novel variants were found 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.