Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a case of multiple symmetric lipomatosis Type I (Madelung's disease) with severe organic affection, hepatic cirrhosis, sever sensitive polyneuropathy and neuropathic ulceration at the left lower limb. A nephrotic syndrome developed in a larval form due to proliferative glomerulonephritis as the result of a metainfectious complications of the infection at the lower limb. We discuss the etiopathogenicity of the organic affection and we highlight the pathogenic links between the disease and its complications.
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PMID:[Nephrotic syndrome associated with symmetrical multiple lipomatosis (Madelung's disease)]. 779 19

Multiple symmetric lipomatosis (MSL) (or Madelung's disease or Launois-Bensaude syndrome) is a rare inherited disease clinically characterized by a massive development of large symmetric unencapsulated lipomas on the subcutaneous tissue of face, neck, trunk and arms, resulting in a grotesque aspect of the patient. Less frequently the accumulation of excessive fatty tissue can spread deeply to the superficial fascia. Peripheral neuropathy, macrocytic anemia and chronic hepatopathy have been reported to cohesist. Macrocytic anaemia and chronic hepatopathy are probably secondary to high alcohol consumption, that is frequently associated. MSL, that was first described by Sir Benjamin Brodie in 1846, affects mainly the men (ratio man/woman 30:1), with an incidence in Mediterranean area of 1:25.000 men; the ages at onset range from 20 to 50 years. It is not known yet the pathway of inheritance and the molecular basis of the genetic defect responsible for the development of fat accumulation. It has been postulated a defective lipolytic response to catecholamines; this altered response could be due to an abnormal amount or a defective function of Gs-protein, the coupler between beta-adrenergic receptors on the surface of adipocytes and adenylate cyclase, or, alternatively, the defect could be in the catalytic unit of adenylate cyclase. The number and function of alpha- and beta-adrenergic receptors and the lipolytic response to cAMP (the second messenger) are normal. Recently it has been hypothesized that the defective lipolysis is due to a disorder in the mitochondria of brown fat, whose distribution is similar to the peculiar position of the lipomas in this pathology; the brown fat, unlike white adipose tissue, has abundant mitochondria. The alcohol abuse, frequently present in these subjects, might facilitate the clinical expression of the molecular defect. The therapy of lipomas is essentially surgical, but this approach is not easy, because the lipomas are not capsulated and extremely vascularized. Moreover the surgical excision is not always a successful treatment for the lipomas as they frequently recurrent after a short period from the exeresis. In this report we describe a 59-years old white man, alcohol abuser, with a typical clinical picture of MSL, developed when he was 37 years old. The patient presented multiple lipomas around the shoulders, face, neck and arms, that had been surgically excised eight times. Magnetic resonance imaging showed the presence of fat deposits also in the mediastinum, that caused a tracheal compression. Hepatic cirrhosis and serious side effects from peripheral neuropathy, represented by Charcot's joint and neuropathic ulcer on the sole foot were observed.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Symmetric multiple lipomatosis with Charcot's joint and neuropathic ulcer. Description of a clinical case]. 838 91

Multiple symmetrical lipomatosis (Madelung's disease) is a rare disease with multiple symmetrical unencapsulated fatty accumulation diffusely involving the neck, the shoulders and the upper extremities (Kohan et al. Otolaryngol. Head Neck Surg. 1993;108:156-159). We describe a 48-year-old Japanese man with a history of alcoholism and liver cirrhosis who reported gradually enlarging masses in his cervical region for 4 years. MRI revealed large masses suggesting lipomas in the neck. The patient underwent a two-stage lipectomy. This patient is the 13th case reported in Japan since 1978, though over 200 cases have been reported since 1846 in Europe, most of them from the Mediterranean (Kitano et al. ORL 1994;56:177 180; Kaku et al. Endocrinol. Diabetol. 1997;4:103-106).
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PMID:A case of multiple symmetrical lipomatosis (Madelung's disease). 1041 45

Benign Symmetric Lipomatosis (Madelung's disease) is a rare disease, characterized by massive fatty deposits in the neck, the shoulders, and the upper extremities. The deformity is associated with chronic alcohol use, malignant tumors of the upper airways, neuropathy, diabetes mellitus, hyperlipidemia, and other metabolic disorders. Although the deformity is prone to recurrence, surgical removal via lipectomy or liposuction provides the only way of palliation. This paper describes the treatment of a 51-year-old man with a history of alcoholism and liver cirrhosis. He reported masses in his cervical and facial regions that had gradually enlarged over a period of 6 years. He also developed respiratory symptoms due to the fatty compression of his upper airways. Our experience with ultrasound-assisted liposuction for the palliative treatment of this disease is reported.
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PMID:Ultrasound assisted liposuction for the palliative treatment of Madelung's disease: a case report. 1142 8

Benign symmetric lipomatosis, also known as Madelung's disease or Launois-Bensaude syndrome, is a rare disease, the etiology of which is still unknown. The presence of multiple, symmetric, nonencapsulated lipomatous masses in the face, neck, upper arms and upper trunk is typical. Until now many causes have been discussed among which liver dysfunctions are described frequently. In up to 90% of patients, alcoholism is observed. In our case the Launois-Bensaude syndrome developed after liver transplantation in a 49-year-old female patient suffering from decompensated cirrhosis (Child-Pugh C score: 12 points). Shortly after the transplantation a slow progress in tissue-building appeared on both upper arms, cervical areas as well as in the face. During postsurgical prednisolone therapy, a massive increase in fluid in the tissue developed, which led to a discontinuation of this therapy regimen. In the further course there was an increase in weight of 20 kg. As far as we know, this case is the first description of the induction of a Launois-Bensaude syndrome following liver transplantation.
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PMID:Induction of benign symmetric lipomatosis (Launois-Bensaude syndrome) in a female patient after liver transplantation. 1826 7