Rombo Syndrome

By | June 8, 2022

Rombo syndrome is a rare condition that primarily affects the skin. The Rombo syndrome exists from birth in the sick people and is therefore counted among the so-called genodermatoses. The main features of Rombo syndrome are thinning hair, tubular atrophoderma, a predisposition to basal cell carcinoma, and reduced sweating.

What is Rombo Syndrome?

Rombo syndrome got its name from the patient in whom the disease was first described. The first to describe Rombo syndrome are the physicians Michaëlsson and his colleagues, who scientifically registered the skin disease for the first time in 1981. For leukoplakia definition, please visit

In principle, Rombo syndrome is extremely rare. The prevalence of Rombo syndrome is currently estimated to be less than 1 in 1,000,000. Since it is a congenital skin disease, many doctors and researchers assume genetic causes of Rombo syndrome. However, it is currently not certain that Rombo syndrome is actually a hereditary disease.

Rombo syndrome has been described in several people from the same family. With regard to these cases, some physicians suspect that the Rombo syndrome is inherited in an autosomal dominant way in the children of the affected people. Typical of Rombo syndrome is the first manifestation of the disease in middle childhood, between about seven and ten years.

The first signs of Rombo syndrome are usually loss of eyelashes, acrocyanosis, various milia, keratosis follicularis, and eyebrow hair loss. In addition, numerous patients suffering from Rombo syndrome develop multiple trichoepithelioma, carcinoma of the basal cells and atrophodermia vermiculata. However, some of the symptoms of Rombo syndrome only appear in adult patients.


The processes and causes of the pathogenesis of Rombo syndrome have not yet been sufficiently clarified. The lack of research results on Rombo syndrome is primarily due to the rarity of the skin disease. With less than one case per 1,000,000 people, Rombo syndrome is very rare in the general population.

So far, neither the exact causes nor the inheritance of Rombo syndrome have been clarified. However, some doctors suspect that Rombo syndrome is passed on in an autosomal dominant manner.

Symptoms, Ailments & Signs

The characteristic signs of Rombo syndrome primarily appear on areas of the skin that are exposed to light, for example on the face of the patient. Here, for example, atrophodermia vermiculata, telangiectasias, basal cell carcinomas, acral erythema and milia can be seen. In addition, people suffering from Rombo syndrome suffer in most cases from keratosis follicularis.

Rombo syndrome first appears in the majority of patients between the ages of seven and ten. Other symptoms appear in the form of hypotrichosis and hair loss on the eyebrows and eyelashes. In addition, Rombo syndrome is usually accompanied by dilated vessels in connection with what is known as acrocyanosis.

Some people with the disease also develop multiple trichoepitheliomas. As Rombo syndrome progresses, some patients develop carcinomas of the basal cells. However, these degenerations mainly only appear in adults between the third and fourth decade of life. Basically, the symptoms of Rombo syndrome show parallels to the symptoms of Bazex-Dupré-Christol syndrome.

Diagnosis & course of disease

The diagnosis of Rombo syndrome is made by a specialized dermatologist. If parents discover typical signs of Rombo syndrome in their child, the pediatrician should first be informed of the abnormalities. After initial examinations, the child patient is usually referred to a dermatologist.

The doctor analyzes the symptoms of Rombo syndrome against the background of the lifestyle, medical history and general living conditions of the sick person. Rombo syndrome is diagnosed using appropriate examination techniques. First of all, visual examinations of the patient and the diseased skin areas are important.

The treating doctor examines the areas of the skin with magnifying glasses and takes photographs, which he greatly enlarges and analyses. To examine certain symptoms, the doctor also takes tissue samples and has them examined histologically in the laboratory. The joint occurrence of various complaints indicates Rombo syndrome.

The specialist is also obliged to carry out a differential diagnosis. Particular attention should be paid to the so-called Bazex-Dupré-Christol syndrome, which has numerous similarities to Rombo syndrome.


In most cases, people with Rombo syndrome suffer from severe skin problems. This leads to a significantly reduced aesthetics of the patient and, especially in children or adolescents, to bullying or teasing. Many patients develop an inferiority complex or low self-esteem, which can lead to psychological problems and depression.

The hair is also affected by Rombo syndrome, resulting in loss of hair or eyebrows. In adulthood, patients can develop carcinomas. For this reason, those affected are dependent on regular examinations. In general, Rombo syndrome cannot be treated or cured. However, many of those affected are dependent on psychological therapy and treatment because of the symptoms.

Unfortunately, the further course of the disease cannot be predicted. The life expectancy of the patient is not affected by Rombo syndrome in most cases. Despite the symptoms, most of those affected can lead an ordinary life and do not experience any special restrictions. Unfortunately, the syndrome cannot be prevented either.

When should you go to the doctor?

Rombo syndrome does not always require medical treatment. External abnormalities such as sparse hair or facial deformities are aesthetic flaws, but usually do not result in any physical problems. A doctor’s visit is indicated if signs of cancer appear. In Rombo syndrome, basal cell carcinomas can form, which can be recognized by skin changes. If growths or pain are noticed, the doctor in charge should be contacted.

At the latest, when the well-being decreases and the appetite decreases, a visit to the doctor is recommended. People who suffer from a severe form of Rombo syndrome are particularly at risk and should have unusual symptoms clarified quickly. The right contact person is your family doctor or a specialist in hereditary skin diseases. If the sparse hair growth or the reduced sweat production lead to problems, we recommend going to the dermatologist.

In the case of psychological problems, the therapist can be consulted. If the Rombo syndrome is monitored as part of regular follow-up checks, any complications can be identified and treated in good time. Patients should consult their doctor closely and have symptoms that cannot be treated with general measures medically clarified. Strict medical supervision also applies after an operation, such as that required for worm-shaped atrophoderma.

Treatment & Therapy

The Rombo syndrome cannot be treated causally at the present time, since the pathogenesis has not been sufficiently researched. That is why it is not possible to target the causes of Rombo syndrome therapeutically. Instead, it is possible to partially relieve the acute and chronic symptoms of Rombo syndrome.

The pathological phenomena of the skin are treated according to the available possibilities, mostly in the same way as in the case of an isolated occurrence of the complaint. According to the current state of knowledge, a cure for Rombo syndrome is not practicable. A general prognosis of the disease is also difficult to make, since Rombo syndrome has only occurred in a small number of people. In any case, carcinomas of the basal cells must be treated adequately and by a specialist.


Rombo syndrome is congenital in those affected, so prenatal prevention is currently not possible. However, control examinations enable the early detection of basal cell carcinomas and thus the prevention of complications.


People suffering from Rombo syndrome can also receive additional support from conventional medical treatment. Homeopathic remedies such as chamomile tinctures and aloe vera ointments help treat skin lesions. The use of alternative medicines and resources requires consultation with the treating specialist. It also helps those affected to pay attention to thorough personal hygiene.

If basal cell carcinomas form as a result of Rombo syndrome, they must be treated and removed by a specialist. Care must be taken to ensure good wound care and aftercare, as infection or scarring of the wound means additional stress for those affected. This can worsen the symptoms. Regular screening helps to identify affected skin areas at an early stage.

Rombo syndrome is one of the extremely rare diseases. Those affected should deal with the disease in detail and consult specialists who are familiar with the clinical picture. It can also help if sufferers talk to other sufferers. Self-help groups for rare and chronic diseases are organized by social organizations and health insurance companies.

Patients with Rombo syndrome should strictly avoid alcohol and cigarettes. It is also necessary to avoid foods that aggravate the symptoms. Since the psyche is an essential factor in skin diseases, little stress and sufficient exercise have a positive effect on the course of the disease. Those affected can obtain further information about supportive measures from their health insurance companies and general practitioners.

You can do that yourself

There are a number of measures that people with Rombo syndrome can take to support medical treatment.

Thorough personal hygiene helps against skin lesions in addition to the medication prescribed by the doctor. In consultation with the doctor, various homeopathic remedies can also be tried, such as aloe vera or tinctures of chamomile.

The basal cell carcinomas must be surgically removed. After such a procedure, the patient must rest. In addition, the affected skin areas must not be scratched. Infections or scarring can occur, which usually represent a greater burden for those affected. Due to the extreme rarity of the disease, a specialist must be consulted in any case. The patients themselves must obtain detailed information about the condition and, if necessary, also look abroad for suitable doctors who can treat Rombo syndrome.

Finally, a gentle diet is important. Patients must not eat any food that can worsen the skin condition. Alcohol and cigarettes should be avoided. Avoiding stress and moderate exercise can improve mental well-being and positively influence the course of Rombo syndrome.

Rombo Syndrome