According to abbreviationfinder, Huriez Syndrome is a rare dermatological condition discovered by French dermatologist Huriez in 1963. The syndrome is inherited in an autosomal dominant manner. 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 carried by only one parent.
What is Huriez Syndrome?
Huriez syndrome is a genetic skin disease that is inherited and therefore congenital. Synonyms for the Huriez syndrome are the palmoplantar hyperkeratosis-sclerodactyly syndrome, the scleroatrophic syndrome, the sclerotylosis and 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 conspicuous longitudinal grooves in the nails. In some cases of illness, the nails are also severely reduced. This can affect the nails of both fingers and toes. However, the symptoms are more common in the hands. Also striking for the Huriez syndrome are severe keratinization disorders of the hands and soles.
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 occur when only one parent carries the mutation. This very rare 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. Signs can spread to hands, feet, and joints. In most cases, the hands are primarily affected.
In addition to the keratinization of the palms of the hands and feet, also known as hyperkeratosis, there is extremely dry skin, some of which has a characteristic grey-yellow color. One consequence of this is the slight scaling of individual skin areas. The nails of the fingers and toes are brittle or poorly developed. They do not grow back, or grow very poorly, and do not need to be cut.
The fingers of people with Huriez Syndrome are often short and pointy. So-called erythema can often be seen on the backs of the hands and feet of those affected. This is redness or inflammation as a result of widening of the blood vessels. These can also appear in the form of capillary dilatations on the face of the sick person.
In addition, those affected often suffer from lesions in the metatarsophalangeal joints and scleroatrophy, a deformation of the sclera of the eye. A complication of Huriez syndrome is the fact that tumors often form with this disease. More precisely, these are carcinomas of the squamous epithelium, a cell layer of the skin and mucous membrane. Carcinomas are malignant and also develop metastases in the context of Huriez syndrome.
Diagnosis & disease progression
Huriez syndrome is congenital. The onset of the disease is either at birth or in early childhood. The diagnosis is based on the characteristic symptoms and histologically through the microscopic examination of the tissue. This shows the increased formation of certain skin layers. Lymphocytic infiltrates are also often seen histologically. The reduced number of Langerhans cells in the injured areas of the skin is also striking.
Complications
Huriez syndrome causes various complaints and complications, which mainly occur on the patient’s skin. Feet and hands are particularly affected by the syndrome. The skin is very dry and has an unnatural yellow tint. Patients also suffer from very brittle fingernails and thus in most cases from reduced aesthetics.
Children in particular can become victims of teasing and bullying and develop psychological problems as a result. Inflammation and redness can also develop, which further worsen the complexion and lead to symptoms. Tumors can also develop as a result of Huriez syndrome, which usually have to be removed as quickly as possible. The patient must continue to participate in cancer screening to prevent and avoid further cancer.
Cosmetic treatment is also necessary to limit the symptoms. If you have problems with your nails, a transplant can also be performed. Usually there are no further complications. Life expectancy is also not affected by Huriez syndrome. Mental health problems can be examined and 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 attributed to any other cause or if other symptoms develop as the disease progresses. If the grey-yellow discoloration of the skin, which is typical of the disease, occurs, an immediate visit to the doctor is indicated. The same applies if painful redness or inflammation is noticed. If you have these symptoms, you should see your doctor immediately.
Otherwise, serious complications can develop. If left untreated, Huriez syndrome can cause tumors, for example, or encourage 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 person. In the advanced stage, an internist must be consulted. Mental health problems are best discussed with a therapist or in a self-help group.
Treatment & Therapy
There is currently no therapy that can cure the cause of Huriez Syndrome. It is important for those affected by this disease to have regular dermatological examinations carried out. Another pillar of therapy for Huriez syndrome is thorough cancer screening. In this way, the malignant tumors can be recognized and treated at an early stage (precancer).
The dermatological symptoms can also be treated symptomatically by a suitable dermatologist in order to minimize the discomfort for those affected. Hyperkeratosis and the complications associated with it can be treated symptomatically by dermatologists or podiatrists, for example, with special peelings, softening of the keratinized tissue (so-called keratolysis) and care products.
Another option for symptomatic therapy for sufferers of Huriez syndrome is nail bed transplantation if the nail hypoplasia is severe and bothersome to those affected. An artificial nail bed can replace the missing nail if the affected person has nail hypoplasia, i.e. underdevelopment of the nail.
The treatment of the hereditary disease also includes detailed genetic counselling. As part of such counseling, those affected should get to know and understand the risks of inheriting this disease better.
Outlook & Forecast
Since Huriez syndrome is genetic, there is no causal therapy. Only the symptoms can be alleviated by treating and caring for the skin. However, the life expectancy of the patients is not limited. In the context of the syndrome, however, temporary precancerous lesions develop, which must be observed again and again and, if necessary, treated.
The patients are otherwise dependent on lifelong care of the skin with skin care products that soften calluses. The skin remains dry and the nails are deformed. In addition, there are many telangiectasias on the face, which appear as red spots on the skin. The biggest problem for those affected is the psychological stress. Children and young people with Huriez syndrome in particular are often exposed to constant bullying and teasing because of their appearance. Since the disease cannot be cured, only symptomatic treatment methods are available, which, however, cannot lead to complete freedom from symptoms.
In particularly problematic cases of underdevelopment of the fingernails and toenails, replacement of the nail bed is often considered. The blotchy appearance on the face can be reduced by cosmetic measures. However, these are very limited treatment options. In addition to the aesthetics, the additional pain that occurs and the constant fear of the development of malignant tumors also weigh on the soul. A comprehensive treatment concept is therefore required, which also includes psychological counseling in order to improve 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 for adults. This minimizes the risk of having offspring suffering from Huriez syndrome.
Thus, genetic counseling for sick people aims to improve and facilitate family planning by clarifying the risks. Close monitoring by a dermatologist is recommended to prevent the progression of the concomitant symptoms of Huriez syndrome.
Aftercare
In aftercare, it is important to provide the skin with moisturizing creams and ointments to counteract drying out of the skin. For this purpose, special products from the pharmacy should be used, the effectiveness of which exceeds that of over-the-counter products. If the doctor has prescribed additional special peelings and callus-dissolving preparations, they should be used regularly to prevent cornification of the skin.
If, despite good care, deep cracks appear in the skin, a doctor must be consulted immediately, as these usually only heal with medical treatment. The psychological stress caused by the changed complexion should not be underestimated. Children and young people 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 how to stay together in a group.
In order to detect and treat any 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 doctor treating them.
You can do that yourself
Huriez Syndrome is a very rare skin condition that should be evaluated and treated appropriately by a dermatologist. The skin of the affected person is very dry and brittle, so that deep cracks develop very quickly. If you want to take your own measures to improve things, you can use moisturizing creams and ointments. This can counteract dehydration of the skin, provided that the Huriez syndrome is not in the final stage.
In extreme cases, dry skin can result in a crack. A crack is a deep tear in the skin that can no longer heal itself. In such a case, a doctor should be consulted as soon as possible. There are only limited measures that lead to a significant improvement in the case of an existing crack.
Regular preventive check-ups are very important so that a serious underlying disease such as cancer is detected at an early stage. If the Huriez syndrome is explicitly diagnosed, special dermatological care products have proven their worth. You should consult a dermatologist who can prescribe appropriate care products. Genetic counseling can help determine whether Huriez syndrome is due to genetic inheritance.
