About launois-bensaude

What is launois-bensaude?

Madelung's disease is a disorder of fat metabolism (lipid storage) that results in an unusual accumulation of fat deposits around the neck and shoulder areas. Adult alcoholic males are most often affected, although women and those who do not drink alcohol can also get Madelung's disease.

What are the symptoms for launois-bensaude?

Neck tumors symptom was found in the launois-bensaude condition

Madelung’s disease is characterized by the presence of fatty tumors (lipomas) located symmetrically around the neck, shoulders, trunk, hips, upper arms and thighs. While these abnormal fatty tumors may grow over the course of months to years, the disease usually demonstrates a rapid progression at first and then slows down as the size of the fatty mass stabilizes. The rest of the body may be lean in contrast to the affected parts.

In 1984, Enzi classified two variants of Madelung’s disease – type 1 and 2 – based on where the excess fat accumulated. The more frequent type 1 variant is common in males and manifests as fatty tumors primarily around the neck (known as ‘Madelung’s collar’) and upper shoulders with relative sparing of the trunk and arms. As a result, type 1 variant patients have a ‘pseudo-athletic’ appearance. In contrast, the type 2 variant is observed in both males and females equally and resembles ‘generalized obesity’ as the fatty deposition occurs in the trunk, upper portion of arms, abdomen, hips and upper thighs. In 1991, a type 3 (gynecoid type) variant was added to the classification characterized by fat accumulation primarily in the pelvic region.

Peripheral neuropathy, or impaired function of the nerves in the arms and legs, often accompanies Madelung’s disease, especially as the affected person grows older. However, these neurological deficits may be difficult to distinguish from the long-term effects of alcoholism when overuse of alcohol is a factor. Nevertheless, the peripheral neuropathy may lead to decreased power in the muscles of the upper (proximal) portion of the arms and legs (myopathy). Symptoms can also arise from the fatty masses compressing important structures in the neck such as the airway (trachea), voice box (larynx), esophagus, and carotid blood vessels. Depending on the severity of the disease, the fatty tumors may cause patients to experience Difficulty breathing (dyspnea), swallowing (dysphagia) and speaking (dysphonia). The patient can present with limited mobility of the neck and may even develop sleep apnea as the disease progresses. It is important to note that the physical changes in a patient’s body resulting from the excessive fatty deposition can take a toll on the patient’s mental health and lead them to suffer from depressive disorders. Social loss (ex. difficulty performing or maintaining a job) due to impaired mobility and other issues has been reported in patients.

There are metabolic abnormalities and other conditions usually associated with Madelung’s disease. These include Diabetes mellitus, hypertension, hypothyroidism, liver disease and gout. A vast majority of the patients (~90%) diagnosed with Madelung’s disease have secondary (alcohol-induced) liver cirrhosis. Although rare, some cases have demonstrated malignant transformation and association of the disease with airway and digestive tract malignancies.

What are the causes for launois-bensaude?

The exact cause of Madelung’s disease is not fully understood. The body’s inability to properly metabolize fat indicates that it may be an endocrine disorder. One theory is that a defect in the adrenergic (epinephrine or norepinephrine)-stimulated fat breakdown (lipolysis) process results in improper deposition of fat. Alcohol can also negatively impact the enzymatic processes in mitochondria (energy-supplying part of the cell) and can alter adrenergic lipolysis in the body. Radial red fibers in the muscles of Madelung’s patients have often been found, indicating a sign of impaired mitochondrial respiratory chain function. Some researchers have noted that the distribution and type of fat cells in the fatty tumors is similar to the brown fat found in infants. Linking this to the aforementioned theory, one study suggested that the fatty tumors formed in Madelung’s disease result from impaired mitochondrial regulation in the brown fat, causing increased division of fat cells (adipocyte hyperplasia). While current research suggests adrenergic pathways and mitochondrial dysfunction to be implicated in Madelung’s disease, a clear picture of the pathogenesis is yet to be determined.

Most occurrences of Madelung’s disease tend to be sporadic, with no family history of the disease. However, some scientists believe a predisposition to the disorder may be inherited from parents (in this case, maternal inheritance) and there have been some reports of cases that appear to be familial. The mode of transmission has been suspected to be autosomal dominant in nature with a variable penetrance in mitochondrial DNA.

Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

Madelung’s disease research on multigenerational blood-related family members showed that each affected member carried an ultrarare MTTT c.8344A>G mutation in their mitochondrial DNA. Similarly, in another study, siblings with Madelung’s disease demonstrated mutations in the gene encoding for the enzyme that breaks down fat (lipase), thereby depressing the fat breakdown pathway. Disease-causing mutations have also been reported in the MFN2 gene encoding mitofusin 2 (a key protein in many mitochondrial processes) and the LIPE gene encoding the hormone sensitive lipase (protein involved in breaking down stored fats). While these are promising breakthroughs, science currently lags behind in understanding the full molecular pathway responsible for Madelung’s disease.

What are the treatments for launois-bensaude?

Treatment usually consists of surgical removal of the fatty deposits from the affected areas. Treatment options include surgical resection of fatty tumor(s), liposuction, or injection lipolysis. Surgical interventions may be complicated by high number of blood vessels supplying the fatty tumor, as well as fat invasion into nearby tissues and deeper structures. Ultrasound-assisted liposuction has been used successfully to remove single fatty tumors.

The fat deposits never undergo spontaneous degeneration and can reoccur even after surgical removal. Therefore, frequent follow-ups are required after treatment. Fibrosis and adhesions can form after lipolysis injection and may interfere with subsequent surgical or liposuction treatment if the disease were to reoccur in the same area.

Unfortunately, drug therapy has not been highly effective in the treatment of Madelung’s disease thus far. The effectiveness of salbutamol in helping fat breakdown through beta-adrenergic receptor stimulation is being tested as a potential therapeutic agent, but results have been inconsistent.

What are the risk factors for launois-bensaude?

Launois-Bensaude syndrome is a rare condition consisting of adipose masses symmetrically. It is distributed mainly in the upper part of the body. a condition marked by symmetrical, painless diffuse fat deposits under the skin of the arms, legs, upper trunk, and neck.
Though its specific mode of inheritance is unknown, the ailment is believed to be genetic; it could be a mitochondrial DNA disease. This condition usually co-occurs with alcoholic liver disease, macrocytic anaemia and peripheral neuropathy.

Risk factors

  • Alcoholism- Although alcoholism has frequently been blamed for peripheral neuropathy, the neuropathy is probably an essential component of the illness.
  • Region-In the Mediterranean region, this condition is more prevalent
  • Gender-This disease is commonly seen among males compared to users. Men are especially affected between the age of 30 and 60 as well as chronic alcohol abusers.
  • Etiopathogenesis is attributable to mutations or deletions of mitochondrial DNA, and alcohol is a possible cofactor.
  • Patients with other systematic conditions also have a high risk for this disease.
  • The presence of other genetic diseases can also be a reason for exacerbation.
  • A coherent medical and surgical management approach should be case-by-case based and allows treating patients in better conditions.
  • It is required to include alcohol withdrawal, corrections of metabolic disorders, and introduction of hygienic and dietary rules.

Fatigue,Nausea,Decreased appetite,Mild fever, or mild abdominal pain,Liver disease,Yellowing of the skin and eyes (jaundice),Darkening of the urine
Reduced neck mobility,Compression of respiratory structures,Liver disease

Is there a cure/medications for launois-bensaude?

Launois-Bensaude is an uncommon condition with an unidentified cause.

  • The Launois-Bensaude condition is characterized by conspicuous, symmetrical masses made of arranged adipose tissue in a symmetrical pattern on the neck, shoulders, arms, and upper regions of the trunk, giving a pseudoathletic appearance.
  • When felt, the distinctive masses are doughy, which sets them apart from truly hypertrophied muscles.
  • These masses make moving the neck and breathing more challenging when they have grown significantly.

Cure or Medications for the Launois-Bensaude

  • Surgery resection and/or liposuction are the major treatment since they are the most successful. After alcohol cessation, which appears to delay the recurrence, this surgical method should be taken into consideration.
  • Correcting metabolic problems and obesity are part of medical care. Due to the size of the fat masses, the spread of the lipomas, and their penetration into the surrounding tissue due to their non-encapsulation, the surgical treatments are sometimes time-consuming.
  • Incisions are suggested wherever necessary for tissue lifting during conventional surgery, which is particularly indicated in highly vascularized and innervated locations. Otherwise, despite the possibility of recurrence, liposuction is preferred.

Fatigue,Nausea,Decreased appetite,Mild fever, or mild abdominal pain,Liver disease,Yellowing of the skin and eyes (jaundice),Darkening of the urine
Reduced neck mobility,Compression of respiratory structures,Liver disease

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