Huriez syndrome

The Huriez syndrome is a rare dermatological disease discovered by the French dermatologist Huriez in 1963. The syndrome is inherited as an autosomal dominant trait. This means that the characteristic for the expression of the disease is not on the sex chromosomes, but on the alleles. In addition, the syndrome can occur when the genetic trait is shared by only one parent.

What is Huriez Syndrome?

Behind the concept of Huriez Syndrome hides a genetic skin disease that is inherited and thus congenital. These are synonyms for Huriez syndrome Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome, the Scleroatrophic Syndrome, the Sclerotylosis as well as the Congenital scleroatrophy of the distal extremities.

All common terms make it clear that the main symptoms of the disease relate to the patient's skin. The dermatological disease is characterized by noticeable longitudinal grooves on the nails. In some cases of illness, the nails are also severely reduced. This can affect the nails of the fingers as well as those of the toes. More often, however, the symptoms occur in the hands area. Also striking for Huriez syndrome are severe cornification disorders of the hands and soles of the feet.

causes

Huriez syndrome is genetic and congenital. It is caused by a mutation on chromosome 4, more precisely at gene location 4q23. Since the mutation does not occur on sex chromosomes X or Y, but on an allele, the disease can be inherited from the father or mother. Men and women can be equally affected by Huriez syndrome.

Inheritance can also take place if only one parent carries the mutation. This very rarely occurring mutation presumably leads to a greatly reduced number of Langerhans cells in certain layers of the skin and thus to the symptoms characteristic of Huriez syndrome.

Symptoms, ailments & signs

The symptoms of Huriez syndrome predominantly affect the skin, with different layers of the skin showing different symptoms. The signs can spread to the hands, feet, and joints. In most cases, the hands are primarily affected.

In addition to the keratinization of the palms and feet, also called hyperkeratosis, extremely dry skin occurs, some of which has a characteristic gray-yellow color. One consequence of this is the slight flaking of individual skin areas. The nails of the fingers and toes are brittle or poorly developed. They do not grow back or grow back very poorly and do not have to be cut.

Often times, the fingers of people with Huriez syndrome are short and pointed. So-called erythema can often be found on the back of the hand and foot of those affected. This is redness or inflammation due to widening of the blood vessels. These can also occur in the form of widened capillaries in the face of the sick person.

In addition, those affected often suffer from lesions of the metatarsophalangeal joints and scleroatrophy, a deformation of the dermis of the eye. A complication of Huriez syndrome is the fact that tumors often develop in this disease. These are more precisely carcinomas of the squamous epithelium, a layer of cells in the skin and mucous membrane. Carcinomas are malignant and develop metastases as part of Huriez syndrome.

Diagnosis & course of disease

Huriez syndrome is congenital. The onset of the disease is either directly at birth or in early childhood. The diagnosis is made on the basis of the characteristic symptoms and histologically by microscopic examination of the tissue. This shows the increased formation of certain skin layers. Often lymphocytic infiltrates can also be seen histologically. The reduced number of Langerhans cells in lesioned skin areas is also noticeable.

Complications

The Huriez syndrome causes various complaints and complications that mainly occur on the patient's skin. The syndrome mainly affects feet and hands. The skin is very dry and has an unnatural yellow color. The patients also suffer from very brittle fingernails and therefore, in most cases, from reduced aesthetics.

Children in particular can become victims of teasing and bullying and develop psychological complaints as a result. Furthermore, inflammation and redness can develop, which further worsen the complexion and lead to discomfort. Huriez syndrome can also cause tumors to develop that usually need to be removed as quickly as possible. The patient must continue to take part in cancer screening in order to prevent and avoid further cancers.

Cosmetic treatment is also necessary to limit the symptoms. A transplant can also be carried out if there are complaints about the nails.Usually there are no further complications. Life expectancy is also not affected by Huriez syndrome. Psychological complaints can be examined and also treated by a psychologist.

When should you go to the doctor?

If symptoms such as excessively dry skin or brittle nails and toes are noticed, Huriez syndrome may be the cause. A doctor should be consulted if the symptoms cannot be traced back to any other cause or if other symptoms appear as the disease progresses. If the gray-yellow discoloration of the skin, which is typical for the disease, occurs, an immediate doctor's visit is indicated. The same applies if painful redness or inflammation is noticed. If you experience these symptoms, you should see your family doctor immediately.

Otherwise, serious complications can develop. In the absence of treatment, Huriez syndrome can, for example, cause tumors or promote mental illness. Parents of affected children should contact the pediatrician and arrange for a comprehensive examination and treatment. If the pain is severe, it makes sense to go to the hospital for clarification. In the case of Huriez syndrome, the general practitioner or a dermatologist is the right contact. In the advanced stage, an internist must be called in. Psychological complaints are best discussed with a therapist or as part of a self-help group.

Doctors & therapists in your area

Treatment & Therapy

At the moment there is no therapy that can cure the cause of Huriez syndrome. For those affected by this disease, it is important to have regular dermatological examinations carried out. Thorough cancer screening is another pillar of therapy for Huriez syndrome. In this way, the malignant tumors can be recognized and treated at an early stage (precancerosis).

The dermatological symptoms can also be treated symptomatically by a suitable dermatologist in order to minimize the discomfort for those affected. The hyperkeratosis and the associated complications can be treated symptomatically by the dermatologist or podiatrist with special peelings, softening of the keratolized tissue (so-called keratolysis) and care products.

Another possibility of symptomatic therapy for people with Huriez syndrome is nail bed transplantation, provided that the nail hypoplasia is pronounced and is perceived as bothersome by those affected. An artificial nail bed can replace the missing nail if the affected person has nail hypoplasia, i.e. an underdevelopment of the nail.

In-depth genetic counseling is also part of the treatment of the hereditary disease. As part of such advice, those affected should get to know and understand better the risks of inheriting this disease.

You can find your medication here

Outlook & forecast

Since Huriez syndrome is genetic, there is no causal therapy. Only the symptoms can be alleviated through treatment and care of the skin. However, the life expectancy of the patient is not restricted. In the context of the syndrome, however, precancerous diseases occur at times, which must be observed again and again and treated if necessary.

Otherwise, patients are dependent on lifelong skin care with callus-softening skin care products. The skin remains dry and the nails are deformed. Also, there are many telangiectasias on the face that appear as red spots on the skin. The biggest problem for those affected is psychological stress. Children and young people with Huriez syndrome in particular are often exposed to constant bullying and teasing because of their appearance. Since a cure for the disease is not possible, only symptomatic treatment methods are available, but these cannot lead to complete freedom from symptoms.

In particularly problematic cases with underdevelopment of the fingernails and toenails, the replacement of the nail bed is often considered. The blotchy appearance of the face can be reduced by cosmetic measures. However, these are very limited treatment options. In addition to the aesthetics, the additional pain and the constant fear of the development of malignant tumors also burden the soul. Therefore, a comprehensive treatment concept is required, which also includes psychological counseling in order to increase the quality of life of those affected.

prevention

Since Huriez syndrome is a genetic condition, there is no direct prevention. The only possible prevention is genetic counseling from adults. This can minimize the risk of having offspring who suffer from Huriez syndrome.

The goal of genetic counseling for sick people is to improve and facilitate family planning by clarifying the risks. Close monitoring by a dermatologist is recommended to prevent the symptoms accompanying Huriez syndrome from progressing.

Aftercare

In aftercare, it is important to provide the skin with permanent moisturizing creams and ointments in order to prevent the skin from drying out. For this purpose, special products from the pharmacy should be used, the effectiveness of which exceeds that of the over-the-counter products. If the doctor has also prescribed special peelings and preparations that dissolve the cornea, ensure that they are used regularly in order to prevent cornification of the skin.

If deep cracks appear in the skin despite good care, a doctor must be consulted immediately, as these usually only heal again with medical treatment. The psychological stress caused by the changed complexion should not be underestimated. Children and adolescents in particular are confronted with teasing and even bullying by their peers and require accompanying psychotherapy.

This helps them deal with it and shows them ways in which they can counter bullying. Self-help groups with children of the same age as possible provide additional support, as they can discuss their worries and fears at eye level and give each other tips for everyday life and the support of a group.

In order to identify and treat malignant tumors at an early stage, regular skin cancer screenings must be carried out by a dermatologist. In addition, the person concerned should also observe the skin for changes and clarify these with the attending physician.

You can do that yourself

Huriez syndrome is a very rare skin disease that should be assessed by a dermatologist and treated accordingly. The skin of the affected person is very dry and brittle, so that deep cracks appear very quickly. If you want to take your own measures to improve yourself, you can use moisturizing creams and ointments. This can counteract dehydration of the skin, provided that the Huriez syndrome is not yet in its final stages.

In extreme cases, dry skin becomes a crack. A crack is a deep crack in the skin that can no longer grow together by itself. In such a case, a doctor should be consulted as soon as possible. In the case of an existing crack, there are only limited measures of your own that lead to a considerable improvement.

Regular check-ups are very important so that a serious underlying disease such as cancer is detected early. If the Huriez syndrome is explicitly diagnosed, special dermatological care products have proven themselves. For this purpose, a dermatologist should be consulted, who can prescribe appropriate care products. Genetic counseling can help determine whether Huriez syndrome is due to genetic inheritance.