Rocha-Lary Lipomatosis

Rocha-Lery lipomatosis is a rare disease in which multiple benign tumors form in the subcutaneous tissue. They are usually located symmetrically on both limbs, less often on the face, torso or in the oral cavity.

The disease was first described by the Swiss physician Rocha in 1878 and the French neurologist Lery in 1905. Currently it is called “Roche-Lery lipomatosis”.

The main symptoms of the disease are the appearance of multiple subcutaneous formations on the skin of the arms and legs, which can be of various sizes and shapes. Most often they have a soft consistency and do not cause pain or discomfort.

The causes of the development of the disease may be hereditary factors, hormonal disorders, metabolic disorders, as well as some diseases of the internal organs.

Various methods are used to diagnose the disease, including ultrasound, computed tomography, magnetic resonance imaging and others.

Treatment of Roche-Lery lipomatosis can be surgical or conservative. Surgical treatment consists of removing tumors, and conservative treatment involves the use of medications and physical therapy.

Overall, Roche-Lery lipomatosis is a rare disease that requires careful diagnosis and treatment. However, if the symptoms of the disease do not disappear and progress, you should consult a doctor for advice and conduct the necessary research.

Roche-Lery lipomatosis

**Roche-Lery lipomatosis (syn. Symmetrical restrictive lipoma)** is a rare hereditary disease associated with disturbances in the functioning of the hydrolase enzyme. The disease occurs in families as a manifestation of autosomal dominant inheritance. The disease received its name after it was first described by the Swiss physician Rocha in 1880 and the French neurologist Lery in the 1920s.

Etiology and pathogenesis

The main cause of the development of pathology is a mutation in the gene that is responsible for the production of the hydrolase enzyme (PHA1). As the disease develops, one allele of the PHA1 gene is unable to synthesize a normal enzyme. Because of this, the metabolic processes of fatty acids are disrupted, which leads to the development of lipomatosis. Those areas of the body where fats most often accumulate are affected.

The incidence with damage to internal organs is 38%, and with involvement of the skin and soft tissues - 54%. In men, the disease develops more often than in women, this is explained by the male tendency to increased accumulation of fat.

Most often, the disease affects middle-aged and young men, which is why it is considered familial. But in some cases, children and pregnant women suffer from lipomatosis. The intrauterine development of such children is disrupted; due to a lack of the enzyme, adipose tissue begins to actively grow. This leads to improper development of the child. However, thanks to timely diagnosis and treatment, this situation can be prevented. Clinical picture

The first symptoms that a patient may feel are complaints of skin pain when pressed. Another characteristic feature is subcutaneous swelling, which may become more pronounced over time.

Lipomatous formations can appear in internal organs, including the liver, spleen, heart, pancreas, kidneys, prostate, ovaries. In rare cases, the process affects the lungs, brain and blood vessels of the extremities, as well as bones (most often the hips). Pathogenic formations are located symmetrically and are often localized on the lower half of the body. Diagnostics

Diagnostics is based on the following data: * Discrepancy between the affected area and the area where the generative source is located. * There is a clear deficiency of symptoms characterizing damage to the heart and liver. * The difference between lipomatous tissue and healthy skin is barely felt upon palpation. Treatment

Treatment of Roche-Lery lipomatosis is carried out surgically, the affected areas are removed, the operation is aimed at removing excess adipose tissue, and recurrence of the disease in this area is almost impossible. To prevent complications, drugs are used that improve blood supply to body tissues. The patient will undergo lifelong treatment and a periodic diet aimed at weight loss in order to normalize metabolism and get rid of

Rocha - Lipomatoses (Lipomania, limited lipomatosis).

Rocha-Lerer partial skin dystrophy (neck lipoma) is a classic example of multiple symmetrical and moderately limited subcutaneous benign skin tumors. Its debut usually occurs in childhood or adolescence and, as a rule, the disease is characterized by the appearance of the same type of limitedly expressed formations ("stamped" figures of various shapes) on the front surface of the neck, the front surface of the chest, sometimes the shoulder girdle, back, lower back and buttocks. Less common are acropathic formations above the shoulders. As a rule, these elements are arranged in groups or in the form of garlands. In the later stages, papillomas may develop against their background. Gradually, the neoplasms disappear, leaving behind atrophy. More pronounced atrophy occurs around comedones. There are rare cases of combination of this dystrophy with limited skin pigmentation.

Symmetrical lipomatosis also occurs in childhood and adolescence. It is also limited and located on the front surface of the chest. Unlike