Juvenile xanthogranuloma predominantly affects children under one year of age and often regresses or fades on its own. It is a yellow-orange spot or benign hemispherical tumor. As long as it is not localized to the eye, xanthogranuloma only requires medical treatment in very rare cases.
What is juvenile xanthogranuloma?
Juvenile xanthogranuloma (JXG) is a benign non-Langerhans cell histiocytosis that occurs predominantly in infants and young children under two years of age. It is an accumulation of lipid-laden macrophages. Smooth, dome-shaped nodules and papules with the typical yellow-orange coloration may appear as early as birth. It is most common around 2 years of age. Less commonly in older children and even less commonly in adults. Benign is understood to be benign and non-aggressive. In isolated cases, other organs may be involved. These include the eyes, spleen, liver, lungs, and central nervous system, but this is comparatively rare. Juvenile xanthogranuloma is also known as non-X histiocytosis, xanthogranuloma juvenile, or nevoxanthoendothelioma.
Causes
Nothing is yet known in detail about the causes of xanthogranulomas. It is possible that genetic predispositions are behind the development of these skin changes. In any case, it is an overproduction of histiocytes and dendritic cells, which accumulate and lead to different symptoms depending on the location.
Symptoms, complaints, and signs
Characteristic of JXG are mostly solitary, solitary yellow-orange nodules or raised papules 0.5 to 2 centimeters in diameter. These can also appear reddish at the beginning. They are predominantly visible in the head area, on the neck or upper body and on the extensor sides of the extremities and are relatively harmless. However, if they occur on or near the eyes and possibly even multiply, that is, several times, an ophthalmologist should be consulted. An ophthalmological examination must be performed to clarify any risk to vision. In rare cases, juvenile xanthogranuloma may attach to other organs. There are a number of possible causes. In addition to what has already been mentioned above, they have also been observed in kidneys, bones, muscle tissue, adrenal glands, the testes (testicles) in the larynx (trachea), intestines and pericardium (heart muscle).
Diagnosis and disease progression
Often, a visual diagnosis is sufficient to identify the characteristic skin signs. Modern examination equipment and high-resolution microscopes allow for gentler diagnostic procedures for young patients than was possible just a few years ago. Infants affected during birth and up to the first six months of life more often have multiple lesions. A case frequency of ten percent of births is assumed and it is remarkable that male infants are more frequently affected. In unclear cases, Langerhans histiocytosis, neurofibromatosis type 1, and juvenile myelomonocytic leukemia must be excluded. These are the most common dangerous diseases with which JXG can be confused. Other differential diagnoses include: Molluscum contagiosum, Flint-Mims-Mold Penning syndrome, cicatricial keloid, urticaria pigmentosa, histiocytoma, fibromatosis, digital, infantile, Spitz nevus, fibroma, xanthoma tuberosum, and eruptivum. Usually, tissue samples are not taken from infants and young children unless absolutely necessary, because juvenile xanthogranuloma usually disappears on its own by the age of six. The most common site of extracutaneous appearance is the eyes with the eyelid and iris. About half of these young patients have skin lesions and thus juvenile xanthogranulomatosis is the most common cause of spontaneous hyphaema in the iris and ciliary body. This means an accumulation of red blood cells in the anterior eye area, as occurs in blunt trauma, for example in boxing. In affected children, this leads to secondary glaucoma and, subsequently, often to blindness. Treatment is therefore a major challenge for any ophthalmologist. If the disease occurs in adults, diagnosis is difficult and a high number of unreported cases is assumed. In addition, spontaneous healing no longer occurs, as is the case with most children.Depending on the localization, a wide variety of symptoms occur, which can also be assigned to numerous other diseases. Therefore, these diagnoses may be rather incidental findings in the course of diagnosing other diseases.
Complications
In most cases, no special treatment is needed for this condition. In most cases, the spot or benign tumor disappears on its own, so there are no further complications or symptoms. Usually, a small lump is visible in the child. However, if it is directly on or near the eye, an ophthalmologist must be consulted. In this case, the lump can affect the vision of the affected person, reducing the patient’s quality of life. Likewise, the disease can also occur in other internal organs and cause discomfort or complications there as well. The further course mostly depends on the affected region of the patient. In most cases, treatment of this disease is not necessary. The symptoms usually disappear on their own, without any particular complications. This does not limit the patient’s life expectancy. Furthermore, the tumor can also be limited by radiation or chemotherapy. In this case, there are usually no further complications. In some cases, psychological support for parents or relatives is also necessary in this process.
When should one go to the doctor?
Normally, a juvenile xanthogranuloma does not require a visit to the doctor. The skin abnormalities present in newborns and infants. Spontaneous healing occurs within a few weeks or months, with no further sequelae. A visit to the doctor can be made to reassure and reassure the parents. Often, however, information from the obstetricians is all that is needed through visual contact. Since routine check-ups of the newborn occur within the first months of life, the skin changes are usually addressed and medically clarified during these treatment appointments. In rare cases, the granuloma develops on areas of the body that require medical intervention. If the skin changes develop near the eye, vision may be impaired. If discoloration of the skin or tissue neoplasms in the form of poplars are observed in the region around the eyelids, a doctor should be consulted. If vision is found to be compromised, medical treatment is advised. In exceptional cases, granulomas may attach to various organs inside the body. Therefore, if there are abnormalities in digestion or a decrease in the infant’s appetite, a doctor should be consulted. If there is a severe weight loss, diarrhea, constipation or pain in the abdomen as well as the kidney region, a visit to the doctor is recommended.
Treatment and therapy
There is no specific therapy for infants and young children, and it is usually not appropriate, because juvenile xanthogranulomas often disappear on their own. However, if they are close to the eyes, very low-dose irradiation can be used to contain growth. For extracutaneous JXG, there are several options, depending on the location. For larger collections in the abdomen and organs, as well as in the nervous system, chemotherapy can be used, similar to the therapy for histiocytosis X. Extracutaneous JXG is one of the rare diseases for which little research funding is available. Therefore, there is not yet a standard therapy for it that can be resorted to in individual cases.
Outlook and prognosis
In almost all patients, juvenile xanthogranuloma has a favorable prognosis. In most cases, spontaneous healing occurs. The changes in skin appearance do not pose any further threat to the health of the affected individual. Treatment or intervention of a medical doctor is rarely necessary. The granulomas develop primarily in children and disappear within a few days, weeks or months. Unless the skin lesions have been scratched open and open wounds have developed, they do not have any disease value. If open wounds are present, there is a risk of blood poisoning. The wounds can become contaminated and germs can enter the organism through the entry sites. A worsening of the prognosis is to be expected, since sepsis involves a potential danger to life.In addition, secondary diseases may develop. If granulomas develop near the eye, the otherwise favorable prognosis also worsens. In this part of the body, they can lead to impaired vision. Medical care is necessary to prevent complications and to remove the skin lesions. If the treatment proceeds without further incidents, the patient can also be discharged from treatment as recovered within a short time. Recurrence of the disease is possible in the further course, especially during childhood. The favorable prognosis is maintained in these cases.
Prevention
Prevention of juvenile xanthogranuloma is not possible, and the mechanisms of how it occurs are not fully understood to date. The Histiocytosis Association is working closely with an international group of physicians to ensure that research in this area is advanced and that these rare patients have a chance at a cure in the future.
Follow-up
In many cases, no special measures of aftercare are available to the affected person with this disease. In this case, first and foremost, a very quick diagnosis with the subsequent treatment is important to avoid further complications in the life of the affected person. In some cases, this tumor may disappear on its own, but the disease should still be checked by a doctor. If the disease disappears again on its own, no special aftercare is necessary or possible. However, those affected should still undergo various examinations and checks by a doctor on a regular basis in order to detect and treat further tumors or other complaints at an early stage. Since the disease primarily affects children, they must be given appropriate support by their parents and other relatives. In this context, intensive and loving conversations are also very important, as this primarily also prevents depression and other psychological upsets. Parents should also make sure that children do not scratch the changes on their skin. Only in a few cases, this disease limits the life expectancy of the affected person.
This is what you can do yourself
For patients with Juvenile Xanthogranuloma, it is of utmost importance to keep a close watch on the changes associated with the disease and to visit the treating physician immediately in case of enlargement or other new features on the granuloma. In addition, it is recommended that parents regularly go to preventive check-ups with the affected child in order to register changes in time and initiate adequate therapy. In many cases, juvenile xanthogranuloma disappears on its own in young affected individuals and does not require medical treatment. In such cases, patients and guardians merely support the course of the disease by taking care not to irritate the juvenile xanthogranuloma. Irritation is possible, for example, through cosmetics or injuries caused by rubbing clothing or hand movements during personal hygiene. Therefore, patients are particularly attentive and careful during such activities in order not to provoke negative changes. Treatment is necessary if the granuloma is close to the eye and thus threatens to impair visual function. In such cases, care by ophthalmologists and other specialists is necessary to remove the juvenile xanthogranuloma and thereby prevent complications in time.
