Huriez syndrome is a rare dermatologic disorder discovered by the 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?
Behind the term Huriez syndrome is a genetic skin disorder that is inherited and therefore congenital. Synonyms for Huriez syndrome include palmoplantar hyperkeratosis-sclerodactyly syndrome, scleroatrophic syndrome, sclerotylosis, and congenital scleroatrophy of the distal extremities. All common terms clarify that the main symptomatology of the disease refers to the skin of the patients. The dermatological disease is characterized by conspicuous longitudinal grooves of the nails. In some cases of the disease, the nails are also severely diminished. This can affect both the nails of the fingers and the toes. More often, however, the symptoms occur in the area of the hands. 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 results from a mutation on chromosome 4, more specifically at gene locus 4q23. Because the mutation does not occur on sex chromosomes X or Y, but rather on one allele, the condition can be inherited from either the father or the mother. Males and females can be equally affected by Huriez syndrome. Inheritance can also occur if only one parent carries the mutation. This very rare mutation is believed to cause a greatly reduced number of Langerhans cells in certain layers of the skin, resulting in the symptoms characteristic of Huriez syndrome.
Symptoms, complaints, and signs
The symptoms of Huriez syndrome predominantly affect the skin, although different layers of the skin may show different symptoms. Signs may spread to the hands, feet, and joints. In most cases, the hands are ostensibly affected. In addition to keratinization of the palms and feet, also called hyperkeratosis, there is extremely dry skin, some of which has a characteristic grayish-yellow coloration. A consequence of this is the slight scaling of individual skin areas. The nails of the fingers and toes are brittle or barely formed. They do not grow back or grow back very poorly and do not need to be cut. The fingers of people suffering from Huriez syndrome are often short and pointed. So-called erythema can often be seen on the backs of the hands and feet of those affected. These are rednesses or inflammations due to dilatation of the blood vessels. These may also appear in the form of capillary dilation on the face of the affected person. In addition, affected individuals often suffer from lesions of the base joints of the fingers and scleroatrophy, a deformation of the sclera of the eye. A complication of Huriez syndrome is the fact that tumors often form in this disease. More specifically, these are carcinomas of the squamous epithelium, a cell layer of the skin and mucosa. Carcinomas are malignant and also develop metastases in Huriez syndrome.
Diagnosis and disease progression
Huriez syndrome is congenital. The onset of the disease is either at birth or in early childhood. Diagnosis is made on the basis of characteristic symptoms and histologically by microscopic examination of the tissue. This reveals the increased formation of certain skin layers. Often lymphocytic infiltrates are also seen histologically. The reduced number of Langerhans cells in lesioned skin areas is also striking.
Complications
Huriez syndrome results in various complaints and complications that occur primarily on the patient’s skin. The feet and hands are particularly affected by the syndrome. The skin is very dry and has an unnatural yellow coloration. Likewise, patients suffer from very brittle fingernails and thus, in most cases, reduced aesthetics. Children in particular can become victims of teasing and bullying and develop psychological complaints as a result.Furthermore, inflammations and redness can also form, which further worsen the skin appearance and lead to discomfort. Tumors can also form as a result of Huriez syndrome, which usually need to be removed as soon as possible. The patient must continue to attend cancer screening to prevent and avoid further cancer. Cosmetic treatment is also necessary to limit the discomfort. In case of complaints on the nails, a transplantation can also be performed. As a rule, this does not lead to further complications. Life expectancy is also not affected by Huriez syndrome. Psychological complaints can be examined by a psychologist and also treated.
When should you see a doctor?
If symptoms such as excessively dry skin or brittle nails and toes are noticed, Huriez syndrome may be causative. A physician should be consulted if the symptoms cannot be attributed to any other cause or if additional symptoms develop during the course of the disease. If the gray-yellow discoloration of the skin typical of the disease occurs, an immediate visit to the doctor is indicated. The same applies if painful redness or inflammation is noticed. With these symptoms should immediately go to the family doctor. Otherwise, serious complications may develop. If not treated, Huriez syndrome can, for example, cause tumors or promote mental illness. Parents of affected children should involve the pediatrician and arrange for a comprehensive examination and treatment. If the pain is severe, a hospital evaluation is advisable. In the case of Huriez syndrome, the general practitioner or a dermatologist is the right contact. In advanced stages, an internist must be consulted. Psychological complaints are best discussed with a therapist or in the context of a self-help group.
Treatment and therapy
At the current time, there is no therapy that can cure the cause of Huriez syndrome. It is important for sufferers of this condition to have regular dermatologic examinations. Another pillar of the therapy of Huriez syndrome is thorough cancer screening. In this way, the malignant tumors can be detected and treated at an early stage (precancerous lesions). The dermatological symptoms can also be treated symptomatically by an appropriate dermatologist in order to minimize the discomfort for the affected person. Hyperkeratosis and associated complications can thus be treated symptomatically, for example, by the dermatologist or podiatrist with special peelings, softening of the keratinized tissue (so-called keratolysis) and care products. Another option of symptomatic therapy for Huriez syndrome sufferers is nail bed transplantation, if the nail hypoplasia is severe and is considered bothersome by the affected person. An artificial nail bed can replace the missing nail if the affected person suffers from nail hypoplasia, i.e. underdevelopment of the nail. Therapy of the hereditary disease also includes in-depth genetic counseling. In the course of such counseling, affected individuals should get to know and understand the risks of inheriting this disease better.
Outlook and prognosis
Because 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 patients is not limited. Within the syndrome, however, precancerous lesions develop at times, which must be observed repeatedly and treated if necessary. Patients are otherwise dependent on lifelong skin care with corneal softening skin care products. The skin remains dry and the nails are deformed. There are also many telangiectasias on the face, which appear as red patches on the skin. The greatest problem for those affected is the psychological burden. Especially children and adolescents with Huriez syndrome are often exposed to constant bullying and teasing because of their appearance. Since a cure for the disorder 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 finger and toe nails, replacement of the nail bed is often considered, among other treatments.The blotchy appearance on the face can be mitigated 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 developing 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
Because Huriez syndrome is a genetic disorder, there is no direct prevention. The only possible prevention is genetic counseling for adults. This can minimize the risk of producing offspring who will suffer from Huriez syndrome. Thus, genetic counseling for sufferers aims to improve and facilitate family planning by informing them of the risks. To prevent the progression of the accompanying symptoms of Huriez syndrome, close monitoring by a dermatologist is recommended.
Follow-up
During aftercare, it is important to provide the skin with moisturizing creams and ointments on a permanent basis to counteract dehydration of the skin. For this purpose, special products from the pharmacy should be used, whose effectiveness exceeds that of over-the-counter products. If the doctor has also prescribed special peelings and callus-removing preparations, regular use of these should be ensured in order to prevent keratinization 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 skin condition 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 to deal with it and shows them ways in which they can confront the bullying. Self-help groups with children of the same age, if possible, provide additional support, as they can discuss their worries and fears at eye level and give each other tips for everyday life as well as the support of 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 affected person should also observe the skin himself for changes and clarify these with the attending physician.
What you can do yourself
Huriez syndrome is a very rare skin disease that should be evaluated by a dermatologist and treated accordingly. In this case, the skin of the affected person is very dry and brittle, so deep cracks appear very quickly. Those who wish to take their own measures for improvement can resort to moisturizing creams and ointments. This can counteract dehydration of the skin, provided that Huriez syndrome is not yet in its final stage. In extreme cases, dry skin develops into a fissure. A chapped skin is a deep tear in the skin that can no longer grow together on its own. In such a case, a doctor should be consulted as soon as possible. There are only limited measures that can be taken by the patient to bring about a significant improvement in the case of an existing fissure. In order to detect a serious underlying disease such as cancer at an early stage, regular preventive examinations are very important. If Huriez syndrome is explicitly diagnosed, special dermatological care products have proven effective. For this purpose, a dermatologist should be consulted who can prescribe appropriate care products. Whether Huriez syndrome is possibly due to genetic inheritance can be found out by genetic counseling.
