Vulgar ichthyosis. History of the MCSC patient
NewsA 34-year-old patient complained of severe dry skin, redness of the skin on the face, allergic reactions in the summer in the form of nasal congestion, brittle nails and hair, roughness of the skin of the shoulders and thighs in the type of "goose bumps".
For many years, it was observed by dermatologists and allergists with a diagnosis of atopic dermatitis, but it was not possible to get rid of these ailments, so the patient needed medical and genetic advice from our doctors at the Center for Personalized Medicine.
When examining the patient, our specialists noted dry skin and peeling, especially on the shins, follicular hyperkeratosis (a strong thickening of the stratum corneum of the skin) on the shoulders and thighs. On the hands, the skin was also very dry with cracks, there were multiple burrs around the nail plates on the hands, the nails were layered, dermatoglyphics (papillary lines and patterns) were emphasized on the palms.
According to the patient, the exacerbation of the condition occurs in the fall and winter, when even the most greasy creams do not help from dry skin. However, when traveling by sea, the condition improves significantly.
The family history is burdened with bronchial asthma in the father and pollinosis in the paternal grandmother (who, according to the words, also often complained of dry skin).
Based on the clinical signs observed in the patient, as well as based on the features of the family history, our specialists suggested that the patient undergo a genetic examination with the search for the most frequent mutations in the FLG gene responsible for the development of vulgar ichthyosis.
Vulgar ichthyosis (otherwise a simple form of ichthyosis) is a genetic disease associated with a violation of one of the main components of the dermis – phyllagrin. Phyllagrin provides a barrier function of the dermis and mucous membranes, which means it is necessary to retain moisture in the skin, as well as to protect the body from excessive penetration from the outside of all kinds of allergens. That is why this disease, in addition to severe dryness of the skin and its peeling, is also characterized by a predisposition to all kinds of allergic reactions.
It is important to note that vulgar ichthyosis is a frequent monogenic disease at the level of the population as a whole. At the same time, as a rule, people are observed for many years by specialists with false diagnoses, as in the case of our patient. This means that they do not receive the right recommendations and treatment.
According to the results of the genetic diagnosis, a mutation of C. 2282del4 in the heterozygous form was detected in the FLG gene in the patient. Vulgar ichthyosis is an autosomal dominant disease that is transmitted from generation to generation with a 50% probability, for the manifestation of the disease it is enough to inherit a mutation from one of the parents.
Thus, according to the results of the diagnosis, the specialists of the Center for Personalized Medicine of the MCSC established the correct diagnosis of the patient - vulgar ichthyosis. Appropriate recommendations for the prevention and treatment of the disease were given.
It is important to note that today in the arsenal of cosmetic therapeutic products for skin care for ichthyosis, there are tools that can effectively retain moisture in the dermis and protect it from aggressive environmental influences, which are especially dangerous for patients with this pathology. As a rule, this condition is well helped by creams that create a film on the skin, products containing vitamins A and E. Exposure to the sun in combination with sea water also has a positive effect on the skin condition in such patients.
The patient was referred to a dermatologist with an updated diagnosis, which allowed her to adjust the treatment measures and achieve a good cosmetic result.
Make an appointment for a medical and genetic consultation: person@mknc.ru
Phone: 8 495 304 30 40
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