Adenoma sebaceum involves neoplasms of body tissues in the facial area. Numerous small nodules form mainly on the cheeks. The skin lesions are benign tumors.
What is adenoma sebaceum?
Adenoma sebaceum is a tuberous sclerosis. This is a congenital hereditary disease. It is inherited in an autosomal dominant manner. In this form of inheritance, one defective allele on one of the two chromosomes is sufficient. Adenoma sebaceum was first reported by the scientist and English dermatologist John Pringle in 1890. For this reason, the disease is also known as Pringle’s tumor. It is characterized by changes in the appearance of the skin on the face. There is no gender-specific expression. Both sexes can develop the disease equally. The areas around the nose, cheeks and forehead are primarily affected. Reddish-brown nodules form in these areas. These are about the size of a pinhead and have a smooth, shiny appearance. Adenoma sebaceum is a tuberous sclerosis. This is a congenital hereditary disease. It is inherited in an autosomal dominant manner. In this form of inheritance, a defective allele on one of the two chromosomes is sufficient to lead to the onset of the disease. Numerous fibroadenomas develop on the patient’s face. These are small nodules with a soft structure. The benign tumors develop in the sebaceous glands. These are located all over the body and are multi-layered piston-shaped glands. The main function of the sebaceous glands is to protect the skin from drying out. Sebaceous gland hyperplasia is diagnosed in the first years of life. Only rarely do the noticeable skin changes first appear in the later years of life.
Causes
Adenoma sebaceum is a hereditary genetic defect. It can be passed on by one or both parents. The probability of inheritance is 50 percent. The alteration of the tuberous sclerosis gene 1 and gene 2 are passed from parent to child. In addition, the disease can occur sporadically and be caused by a new mutation of the genes. The gene mutations lead to a disturbance in the functional activity of the proteins hamartin and tuberin. Both proteins are responsible for tumor suppression in the human body. When fully functional, they prevent a cell from developing into a tumor cell. Due to the abnormality of the proteins, disturbances of their functional activity occur. This manifests itself in the formation of a large number of tumors. Scientists are currently researching whether the proteins are involved in the regulation of growth during the developmental period of the embryo. There are indications of this, but the thesis has not yet been scientifically proven or adequately substantiated.
Symptoms, complaints, and signs
Red or brown nodules develop in adenoma sebaceum primarily on the cheeks as well as in the nasolabial folds. The nasolabial fold is located on both sides in the region between the wings of the nose and the corners of the mouth. In addition, the skin lesions occur on the forehead and may also be skin-colored. Adenoma sebaceum may be unilateral or symmetrical on both halves of the face. The symptoms are usually detected and manifest in early childhood at an age of three to ten years. With increasing age, the skin lesions become more prominent, especially in post-pubertal age. The upper layer of skin is considered inconspicuous because the skin changes originate in the sebaceous glands and not on the epidermis. Patients report an unpleasant feeling of tightness on the facial skin and feel unclean. In individual cases, the benign tumors can also form on the chin or in the upper neck area. As soon as the area around the nose is affected, problems occur in spectacle wearers. The skin changes are usually not painful. When touched with the hand, the individual tumors can be easily moved with a little pressure without additional discomfort.
Diagnosis and course
The diagnosis of adenoma sebaceum is made in the first step by visual contact by a medical professional. Subsequently, a comprehensive diagnosis with various methods takes place. In all cases, a genetic test ultimately reveals the mutations of the genes. Often the adenoma is a part of a whole symptom complex. Mostly it belongs to the Bourneville-Pringle syndrome.This is described clinically with trias. These include adenoma sebaceum, epilepsy, and mental underdevelopment compared with the age group.
Complications
Adenoma sebaceum usually causes nodules to form on the cheeks and sometimes in other regions of the face. These are usually benign tumors. The nodules can also form in the corners of the mouth or on the forehead and increase in number during the patient’s life. This often leads to inferiority complexes and lowered self-esteem, as the patients with the nodes do not consider themselves beautiful. This can also result in social exclusion. The skin on the face tightens and may also feel unclean or be associated with itching. Furthermore, adenoma sebaceum can also form on the neck or chin. Especially people who wear glasses often suffer from adenoma sebaceum when it forms directly on the nose. This can cause severe pain. Treatment takes the form of removal of the nodes. These can usually be removed with the help of a laser or through surgery. Since these are benign tumors, adenoma sebaceum does not cause any further discomfort or complications. Also, scars usually do not occur and the patient’s life expectancy is not reduced.
When should you see a doctor?
If adenoma sebaceum is suspected, a physician should be consulted promptly. Typical warning signs of the disease include red or brown nodules on the cheeks and above the corners of the mouth, and painful pustules on the forehead and bridge of the nose. If one or more of these symptoms is noticed, a medical professional must clarify the cause. A visit to the doctor is particularly recommended if the skin changes appear between the ages of three and ten and persist longer than usual. Usually, the lumps increase before the onset of puberty and are accompanied by an unpleasant feeling of tightness. Rarely, the skin changes develop into benign tumors – at the latest then a doctor must be consulted. Anyone who already suffers from another skin disease, such as Bourneville-Pringle syndrome, should go to the doctor immediately with the adenoma. The same applies if pre-existing conditions such as neurodermatitis are added or the skin changes lead to a lowered self-esteem or inferiority complexes. In general, however, an adenoma sebaceum is harmless and only needs to be clarified if there are further complaints.
Treatment and therapy
Currently, there is no therapeutic method to treat adenoma sebaceum. For this reason, treatment is based on cosmetic removal of the facial nodules. This is done via laser irradiation or excision, depending on the extent of the nodules. In laser irradiation, a laser is used to gradually remove the unwanted tissue, usually in several sessions. This is done by thermal destruction of the diseased tissue by means of the radiation emitted by the laser. The tumor tissue is absorbed by the healthy tissue and falls off. In excision, the unwanted tissue is removed in a surgical procedure. Depending on the individual extent of the nodes, the surgical procedure is performed with local anesthesia. Depending on the severity, skin grafting may occur. In most cases, the skin heals without problems or leaves small scars that can be reduced in further cosmetic procedures if desired.
Outlook and prognosis
In many cases, patients suffer aesthetic discomfort from adenoma sebaceum and feel subjectively disfigured by the neoplasms on the face. This can lead to severe depression and inferiority complexes while driving social exclusion. Especially in children, these malformations can lead to teasing or bullying and thus considerably reduce the quality of life. In some cases, pain and breathing difficulties also occur if the adenoma sebaceum spreads to these areas. The skin on the face feels unclean to the patient. People who rely on eyeglasses may suffer from pain as the eyeglasses may press on the affected regions. In most cases, there are no life-threatening complications or discomfort. The adenoma sebaceum can be removed with the help of a laser.In some cases, scars remain afterwards, but they can be covered with skin grafting. In severe cases, the adenoma sebaceum is removed by surgery. In this case, there is also a positive course of the disease and the patient’s life expectancy is not affected.
Prevention
Preventive measures cannot be taken for adenoma sebaceum. Once a parent has the genetic defect, the mutation is very likely to be passed on to the child through the dominant chain of inheritance. Only the degree of expression in the parent and the child may vary.
Follow-up
Special options for aftercare are usually not available to the affected person with the disease adenoma sebaceum. In this case, the benign tumors must be removed from the skin to avoid further complications and discomfort. In most cases, the treatment is carried out by surgical intervention, during which the tumors are removed from the skin. The patient should rest and take care of the body after such an operation. All strenuous activities or sports should be avoided so that the body can rest and healing is not disturbed. Since a complete treatment of adenoma sebaceum is usually not possible, the affected person is dependent on regular examinations. This ensures that the lumps under the skin can be detected and treated at an early stage. In some cases, however, the patient is dependent on a skin graft to alleviate the symptoms. Since adenoma sebaceum not infrequently also leads to psychological discomfort or depression, conversations with friends or with one’s own family are often very useful in this case in order to alleviate these complaints. Contact with other sufferers of the disease can also be useful, as this leads to an exchange of information.
What you can do yourself
Adenoma sebaceum cannot yet be treated causally. The most important self-help measure is to present the skin lesions to your family doctor or a specialist and have a treatment promptly performed via excision or laser irradiation. After such treatment, strict personal hygiene applies. The affected area must be well cared for, ideally with the care products prescribed by the doctor. Accompanying this, a complaints diary should be kept. Adenoma sebaceum often occurs in combination with other symptoms and complaints, which must be clarified and treated if necessary. After skin transplantation, patients should take it easy for a few weeks. The affected skin area is very sensitive after surgery and should not be exposed to irritants such as dust or perfumed skin care products. Exposure to sunlight should also be avoided if possible. Comprehensive treatment is necessary to avoid the formation of scars. If, despite everything, psychological discomfort should arise, a discussion with a therapist is advisable. Under certain circumstances, going to a self-help group can also help. Which measures are indicated in detail should in any case be discussed with the dermatologist in charge.
