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Differential diagnosis and treatment of skin lipomatosis

Differential diagnosis and treatment of skin lipomatosis

| from Booking Health GmbH | Diagnosis & treatment

Skin lipomatosis is the local overgrowth of adipose tissue. Typical lipoma is a benign painless lump that is "hiding" under the skin during the palpation. In most cases the pathology is connected with no more than the esthetic discomfort, especially being located in the face and neck region. Nevertheless, in some patients lipomas can...

Skin lipomatosis is the local overgrowth of adipose tissue. Typical lipoma is a benign painless lump that is "hiding" under the skin during the palpation. In most cases the pathology is connected with no more than the esthetic discomfort, especially being located in the face and neck region. Nevertheless, in some patients lipomas can grow up to 10 centimeters, cause pain, be a sign of genetic pathology or increase oncological alertness. Thus, dermatologists from the specialized hospitals perform careful diagnostics, including the genetic tests, prior to choosing the most beneficial individual treatment option for each patient.

Why does the pathology arise?

The etiology of lipomatosis remains unknown. There is no definite connection between the lipomas development and any bacterial, fungal or viral agent. However, the incidence of the pathology is somewhat higher in people with hyperlipidemia, obesity (the body mass index over 30), and diabetes mellitus type 2. Presumably, this is connected with impaired lipid metabolism and fat cells hypertrophy.

Among other non-modifiable risk factors are sex and age. Incidence of the pathology is slightly higher in man compared to women. The high risk group includes people between the age of 40 and 60. This may be connected with the age-related features of lipid metabolism and immune system functioning.

Genetic factor is essential as well. Up to 3% of all affected patients are diagnosed with the diverse inherited conditions. In up to 65% of cases mutations in chromosome 12q13-15 are revealed, in 10% of cases doctors find deletions of chromosome 13q, and in up to 25% of cases we talk about the unidentified mutations or primarily normal karyotype.

Lipomas can also develop against the background of certain medical conditions. For instance, this may happen in HIV patients who receive protease inhibitors like saquinavir, nelfinavir, fosamprenavir, etc. Protease inhibitors act as the antiviral agents but the same time reduce blood lipids and stimulate their deposition in fat tissue.

How does skin lipomatosis declare itself?

Manifestations of skin lipomatosis include presence of subcutaneous lumps. Such lumps typically grow to a final size of 2-3 centimeters but they can also reach 8-10 centimeters and be referred to as "giant lipomas". As a matter of fact, lipomas can develop in each body region where fat cells exist. Nevertheless, they appear more frequently on the neck, shoulders, chest and trunk, in the armpits, and on the thighs. Less frequent, lipomas may also be found in the parenchymatous internal organs or even in bones. Neoplasms of the oral and maxillofacial region require special attention as they tend to affect parotid region being more difficult in the terms of symptoms and diagnosis making.

Being soft and movable, small adipose tumors typically do not cause any symptoms. Nevertheless, in rapid growth or unfavorable location they can affect nerve endings, vessels, and even joints. This leads to the development of discomfort, pain, local sensory disorders and paresthesia, edema and other signs of the restricted blood supply (the compressive syndrome). It should be mentioned, that all symptoms are local and can be easily associated with the presence of neighboring lipoma. Other possible problem is a cosmetic defect, as skin lipomas are often located on the face and other visible body parts. This may cause psychological discomfort, especially in women and children.

Although most adipose tumors are benign and slow-growing, the secondary changes may also develop in them. This includes atrophy (the most favorable outcome, when volume of the neoplasm is reduced without any intervention), fat necrosis (accompanied by redness, pain and hyperthermia), and prominent hyalinization. In the development of any worrying signs, suspected malignant changes or presence of multiple recurrent lipomas, it is better to visit dermatologist for the detailed examination and histological assessment of the neoplasm.

Which diseases can skin lipomatosis mask?

In most cases doctors diagnose lipomas simply with a physical examination. The superficial palpation and visual examination are enough for making the initial diagnosis. Nevertheless, the presence of fatty tumors is among manifestations of several other pathologies, such as:

  1. Familial multiple lipomatosis is characterized by numerous lipomas on the extremities and trunk. The pathology is inherited in the autosomal dominant manner, which means that it affects more than one family member in several generations. It has been reported that the condition is associated with gastroduodenal lipomatosis, as well as refractory epilepsy and brain anomalies.
  2. Multiple symmetric lipomatosis (Launois-Bensaude syndrome) is characterized by growth of the symmetric adipose tumors around the neck, arms, and upper trunk. In the severe cases, excessive growth of the neoplasms leads to a partial loss of neck mobility and persistent pain. The condition is thought to be associated with mitochondrial DNA mutations, male sex, and a history of alcohol abuse. Patients with multiple symmetric lipomatosis often need surgical treatment due to lipomas’ quantity and localization.
  3. Adiposis Dolorosa is characterized by numerous lipomas or folds of fatty tissue that cause pain, burning feeling or aching. The pathology often affects overweight women between ages 35 and 50. Being also called adiposalgia, it significantly affects quality of life and requires combination therapy. Adiposis Dolorosa is often accompanied by recurrent seizures, depression, migraine headaches, tachycardia and other symptoms.

That is why the final diagnosis is made only after the laboratory and instrumental tests, including the genetic ones in the eligible patients. The specialized hospitals in Germany, Switzerland, Israel and other countries with the excellent indicators of medical care quality include the following procedures in the diagnostic plan:

  1. Biopsy, with removing a small sample of a lipoma tissue for the examination under the microscope. Histological examination of a simple lipoma reveals normal adipocytes that are similar to the adipocytes of the subcutaneous tissue. Mixed histological types of a tumor include adenolipoma (contains sweat glands), angiolipoleiomyoma (contains blood vessels and smooth muscle cells), angiolipoma (reach with blood vessels), chondroid lipoma (contains cartilage cells), and neural fibrolipoma (affects nerve endings).
  2. Ultrasound scan for investigation of the inner structure of an superficial adipose tumor.
  3. MRI or CT scan for investigation of the inner structure of adipose tumors that seem to be located under the subcutaneous fat.

Due to high precision of diagnostic tests, treatment in Switzerland and Germany demonstrates high efficacy and good cosmetic results. Genetic tests may be performed additionally in order to estimate risk of the genetic inheritance or neoplastic transformation of the pathology. Benign lipomas are typically MDM2, CDK4, and p16 negative.

Which treatment options are the most effective?

After making the final diagnosis based on the reliable diagnostic tests, doctors proceed to the treatment scheme elaboration. Irrespective of the histological type, lipomas never involute spontaneously. Advanced healthcare institutions in the world’s leading countries offer a wide range of the conventional and invasive treatments.

Steroids application. Ointments and creams with topical corticosteroids make a lipoma shrink due to the anti-inflammatory and immunosuppressive action. It sounds paradoxical, as the prolonged intake of moderate to high doses of oral corticosteroids may lead to the steroid-induced lipomatosis development. Due to the mild effect, steroids application is mainly recommended in patients with relatively small and asymptomatic lipomas.

Liposuction is the procedure of direct removing fatty tissue from the lipoma with the help of a needle and syringe. The intervention is similar to a simple injection and does not require anesthesia. Although being connected with few possible complications, liposuction is characterized by relatively high relapse rate.

Collagenase injections (brand name XIAFLEX) include introduction of the drug directly inside the adipose neoplasm. Collagenase dissolves the main structural component of the neoplasm, i.e. fat, and additionally splits collagen fibers. Fat inside the lipoma is the same as the normal fat, except it is enclosed by a fibrous capsule. Thus, XIAFLEX affects all lipoma parts thereby decreasing significantly the size of the neoplasm or removing it completely. Depending on the clinical situation, doctor chooses the required dosage of the drug; dosage range is from 0.058 mg to 0.44 mg per single injection.

Deoxycholic acid injections (brand name ATX-101) are aimed at emulsification (i.e. destruction) of fat and fatty compounds. Similar to XIAFLEX, deoxycholic acid injections are suitable for patients with large or giant lipomas, as surgical removing of such neoplasms is connected with hematomas and scar formation. Currently, ATX-101 is mainly administered in patients with fatty tumors on the neck, arms, legs, or trunk. The dosage of the drug varies from up to 4.8 ml of the 1% solution per session to 4.8 ml of the 4% solution per session.

Surgery. Surgical removal of skin lipomas is the most radical therapy that leads to the complete cure in 100% of patients. Surgery is indicated when a fatty tumor is large or grows quickly, causes pain or other symptoms, affects normal body functions. The oncologic alarm and inability to define the tumor type are the invariable indications for surgery. The removed tissue is subject to thorough examination with the obligatory final diagnosis making. In addition, surgery may be performed for the cosmetic reasons. Plastic surgery in Switzerland and other developed countries is aimed not only at the tumor removal, but also at correcting scars and soft tissue defects.

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Choosing the most safe and cost effective therapeutic option for a patient with skin lipomatosis requires availability of precise diagnostic tests and qualified doctors with an extensive practical experience. Only the comprehensive examination allows differentiating lipomatosis from more serious or complex skin conditions. In a number of cases patients need to seek plastic surgery abroad in order to be diagnosed correctly and treated safely.

People without strong experience of receiving medical help abroad may contact Booking Health – the certified international provider of medical services in the world’s leading clinics. Along with the comprehensive assessment of each case by healthcare professionals, Booking Health offers assistance in the following aspects:

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Diagnosis and treatment of skin lipomatosis
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Author: Dr. Nadezhda Ivanisova

 

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