Clinical Overview > Condition/ Syndrome

You are looking at 1 - 2 of 2 items for :

  • Lipomatosis x
Clear All
Soledad Bell Department of Endocrinology, Metabolism and Nuclear Medicine, Hospital Italiano, Perón 4190, Buenos Aires, Argentina

Search for other papers by Soledad Bell in
Google Scholar
PubMed
Close
,
Gabriela Alejandra Sosa Department of Endocrinology, Metabolism and Nuclear Medicine, Hospital Italiano, Perón 4190, Buenos Aires, Argentina

Search for other papers by Gabriela Alejandra Sosa in
Google Scholar
PubMed
Close
,
Ana del Valle Jaen Department of Pathology, Hospital Italiano, Perón 4190, Buenos Aires, Argentina

Search for other papers by Ana del Valle Jaen in
Google Scholar
PubMed
Close
, and
María Fabiana Russo Picasso Department of Endocrinology, Metabolism and Nuclear Medicine, Hospital Italiano, Perón 4190, Buenos Aires, Argentina

Search for other papers by María Fabiana Russo Picasso in
Google Scholar
PubMed
Close

Summary

Thyroid lipomatosis is a rare disease, as a total of 20 cases have been described in the literature. It is characterized by diffuse infiltration of the stroma by mature adipose tissue and by progressive growth that produces different degrees of compressive symptoms. Our aim is to present the case of a 36-year-old woman who consulted because of dyspnea caused by a multinodular goiter. She underwent surgery with the presumptive diagnosis of a malignant neoplasia, but the pathological examination of the surgical specimen established the diagnosis of thyroid lipomatosis.

Learning points

  • Thyroid lipomatosis is a rare, benign disease characterized by diffuse infiltration of the stroma by mature adipose tissue.

  • The pathophysiology of diffuse proliferation of adipose tissue in the thyroid gland is unclear.

  • Thyroid lipomatosis is clinically manifested by a progressive enlargement of the thyroid that can involve the airway and/or upper gastrointestinal tract, producing dyspnea, dysphagia, and changes in the voice.

  • Given the rapid growth of the lesion, the two main differential diagnoses are anaplastic carcinoma and thyroid lymphoma.

  • Imaging studies may suggest a differential diagnosis, but a definitive diagnosis generally requires histopathological confirmation after a thyroidectomy.

Open access
Aysenur Ozderya Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey

Search for other papers by Aysenur Ozderya in
Google Scholar
PubMed
Close
,
Sule Temizkan Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey

Search for other papers by Sule Temizkan in
Google Scholar
PubMed
Close
,
Kadriye Aydin Tezcan Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey

Search for other papers by Kadriye Aydin Tezcan in
Google Scholar
PubMed
Close
,
Feyza Yener Ozturk Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital, Istanbul, Turkey

Search for other papers by Feyza Yener Ozturk in
Google Scholar
PubMed
Close
, and
Yuksel Altuntas Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital, Istanbul, Turkey

Search for other papers by Yuksel Altuntas in
Google Scholar
PubMed
Close

Summary

Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.

Learning points

  • Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.

  • The exact cause of the disease is unknown.

  • Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease.

Open access