Differential diagnosis and treatment of skin lipomatosis
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Skin lipomatosis is local overgrowth of adipose tissue. Typical lipoma is a benign, painless lump that is "hidden" under the skin during a palpation. In most cases the pathology is connected with no more than aesthetic discomfort, especially as it is located in the face and neck region. Nevertheless, in some patients, lipomas can grow up to 10 cm, cause pain, be a sign of a genetic pathology, or increase oncological alertness. Thus, dermatologists from specialized hospitals perform careful diagnostics, including genetic tests, prior to choosing the most beneficial individual treatment option for each patient.
Content
- Why does this pathology arise?
- How does skin lipomatosis declare itself?
- Which diseases can skin lipomatosis mask?
- Which treatment options are the most effective?
- Plastic and dermatosurgery all over the globe with Booking Health
Why does this pathology arise?
The etiology of lipomatosis remains unknown. There is no definite connection between lipomas developing and any bacterial, fungal, or viral agent. However, the incidence of the pathology is somewhat higher in people with hyperlipidemia, obesity (a body mass index over 30), and type 2 diabetes mellitus. Presumably, it is connected with impaired lipid metabolism and fat cells hypertrophy.
Among other non-modifiable risk factors are sex and age. The incidence of the pathology is slightly higher in men compared to women. The high risk group includes people between the ages of 40 and 60. This may be connected with the age-related features of lipid metabolism and immune system functioning.
Genetic factors are essential as well. Up to 3% of all affected patients are diagnosed with 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 unidentified mutations or primarily normal karyotypes.
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 antiviral agents but, at the same time reduce blood lipids and stimulate their deposition in fat tissue.
How does skin lipomatosis declare itself?
Manifestations of skin lipomatosis include the presence of subcutaneous lumps. Such lumps typically grow to a final size of 2-3 cm but they can also reach 8-10 cm 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 frequently, 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 the parotid region and therefore, are more difficult in terms of recognising symptoms and making a diagnosis.
Being soft and movable, small adipose tumors typically do not cause any symptoms. Nevertheless, with rapid growth or an 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 restricted blood supply (compressive syndrome). It should be mentioned that all symptoms are local and can be easily associated with the presence of a neighboring lipoma. Another 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, secondary changes may also develop in them. This includes atrophy (the most favorable outcome, when the volume of the neoplasm is reduced without any intervention), fat necrosis (accompanied by redness, pain, and hyperthermia), and prominent hyalinization. With the development of any worrying signs, suspected malignant changes or the presence of multiple recurrent lipomas, it is better to visit a dermatologist for a detailed examination and histological assessment of the neoplasm.
Which diseases can skin lipomatosis mask?
In most cases, doctors simply diagnose lipomas with a physical examination. A superficial palpation and visual examination are enough to make the initial diagnosis. Nevertheless, the presence of fatty tumors is among the manifestations of several other pathologies, such as:
- Familial multiple lipomatosis is characterized by numerous lipomas on the extremities and trunk. The pathology is inherited in an 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.
- Multiple symmetric lipomatosis (Launois-Bensaude syndrome) is characterized by the growth of the symmetric adipose tumors around the neck, arms, and upper trunk. In severe cases, the 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, the male sex, and a history of alcohol abuse. Patients with multiple symmetric lipomatosis often need surgical treatment due to the quantity and localization of the lipomas.
- Adiposis dolorosa is characterized by numerous lipomas or folds of fatty tissue that cause pain, a burning feeling, or aching. The pathology often affects overweight women between the ages of 35 and 50. Also called adiposalgia, it significantly affects a patient’s 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 a final diagnosis is only made after the laboratory and instrumental tests, including the genetic ones in eligible patients. The specialized hospitals in Germany, Switzerland, Israel, and other countries with excellent indicators of medical care quality, include the following procedures in their diagnostic plan:
- Biopsy, removing a small sample of lipoma tissue for examination under a microscope. A histological examination of a simple lipoma reveals normal adipocytes that are similar to the adipocytes of the subcutaneous tissue. Mixed histological types of tumors include adenolipoma (contains sweat glands), angiolipoleiomyoma (contains blood vessels and smooth muscle cells), angiolipoma (reached by blood vessels), chondroid lipoma (contains cartilage cells), and neural fibrolipoma (affects nerve endings).
- Ultrasound scan for investigation of the inner structure of an superficial adipose tumor.
- MRI or CT scan for investigation of the inner structure of adipose tumors that seem to be located under subcutaneous fat.
Due to the 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 the risk of a 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 a 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 conventional and invasive treatments.
Steroid application. Ointments and creams with topical corticosteroids make a lipoma shrink, due to the anti-inflammatory and immunosuppressive action of them. It sounds paradoxical, as a prolonged intake of moderate to high doses of oral corticosteroids may lead to the steroid-induced lipomatosis developing. Due to the mild effect, steroid application is mainly recommended for patients with relatively small and asymptomatic lipomas.
Liposuction is a procedure which directly removes 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 connected with a few possible complications, liposuction is characterized by a relatively high relapse rate.
Collagenase injections (brand name XIAFLEX) include the introduction of the drug directly inside the adipose neoplasm. Collagenase dissolves the main structural component of the neoplasm, i.e. fat, and additionally splits the collagen fibers. The 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 significantly decreasing the size of the neoplasm or removing it completely. Depending on the clinical situation, the 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 the 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 the surgical removal 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 4.8 ml of a 1% solution per session to 4.8 ml of a 4% solution per session.
Surgery. Surgical removal of skin lipomas is the most radical therapy and leads to a complete cure in 100% of patients. Surgery is indicated when a fatty tumor is large or grows quickly, causes pain or other symptoms, or affects normal body functions. The oncologic alarm and inability to define the tumor type are invariable indications for surgery. The removed tissue is subject to a thorough examination for the obligatory final diagnosis making. In addition, surgery may be performed for cosmetic reasons. Plastic surgery in Switzerland and other developed countries is aimed not only at the tumor’s removal, but also at correcting scars and soft tissue defects.
Plastic and dermatosurgery all over the globe with Booking Health
Choosing the most safe and cost effective therapeutic option for a patient with skin lipomatosis requires an availability of precise diagnostic tests and qualified doctors with extensive practical experience. Only a comprehensive examination allows for 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 can contact Booking Health – a international provider of medical services in the world’s leading clinics. Along with a comprehensive assessment of each case by healthcare professionals, Booking Health offers assistance for the following aspects:
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Authors:
The article was edited by medical experts, board certified doctors Dr. Nadezhda Ivanisova, Alexandra Solovey. For the treatment of the conditions referred to in the article, you must consult a doctor; the information in the article is not intended for self-medication!
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