Ichthyosis is a rare and, until now, little known disease, but TikTok has brought more visibility to the subject: there are more than 11 million posts with the hashtag #ictiosis, and tens of thousands of videos and user profiles that speak openly about the difficulties of living with the condition.

Recently, ichthyosis burst the TikTok bubble thanks to the story of Nathalie Richert, a 23-year-old woman living in Switzerland. Nathalie's story reverberated not only in the international press, but became news in Brazil.

In an interview with the British newspaper The Mirror, she shared the challenges of having such a rare and debilitating disease as ichthyosis, which causes severe flaking of the skin. In addition, because of the extremely dry skin, Nathalie's eyelids turn inside out. To ease the visual discomfort, it is necessary to apply gel and eye drops frequently to moisturize the eye region.

See also: What is the stiff person syndrome that affects Celine Dion anyway?

What is and what are the types of ichthyosis?

According to the Brazilian Society of Dermatology, ichthyosis is a hereditary condition, which parents pass on to their children. The disease occurs from mutations in the genes responsible for encoding filaggrin.

This protein has the function of conferring impermeability and hydration to the skin. When it is deficient in some way, it causes intense dryness of the skin to varying degrees. In other words, the severity of ichthyosis varies according to the degree of mutation.

Patients with mild flaking that worsens during adolescence and adulthood usually have ichthyosis vulgaris, which is the most common type.

However, some individuals have a major recessive mutation - harlequin ichthyosis - that generates aggressive scaling all over the body from birth. Although the incidence is lower, it can cause death.

Finally, there is acquired ichthyosis, which arises as a result or symptom of other diseases, for example, leprosy, some types of cancer (lymphomas), AIDS, and multiple myeloma.

Symptoms of ichthyosis

Reddened, dry skin that flakes easily all over the body is the main characteristic of ichthyosis. The condition can worsen when the weather is cold or very dry, which requires intensive skin care.

Another hallmark of the disorder is more sensitive eyelids, like Nathalie Richert's. As a result, the person has difficulty blinking or closing the eyes completely. In addition, both ichthyosis vulgaris and harlequin can cause fatigue.

More severe, harlequin is very damaging to the skin, which creates thick layers to protect the wound, so some individuals have deformities of the nose, mouth, ears, fingers, and toes. The skin is also more vulnerable to infection, which increases the risk of complications.

Incidence

According to the Ministry of Health, for every 250 live births, one has the condition. Most patients have ichthyosis vulgaris - 90% - while 10% live with harlequin.

Diagnosis

A part of the cases of ichthyosis, especially harlequin, can be discovered during the prenatal period. By means of ultrasonography, it is possible to notice certain indications of the condition: mouth always open, alteration in the nose or ears, and the appearance of the little clawed hands, for example.

To confirm, the doctor may perform an analysis of the amniotic fluid or the baby's skin, a procedure authorized around the 21st week of gestation.

But most diagnoses occur after birth, because ichthyosis vulgaris can be difficult to detect during pregnancy. The identification is clinical, made by a neonatologist, pediatrician, or dermatologist specialized in the disease.

Treatment of ichthyosis

Unfortunately, congenital ichthyosis has no cure, only supportive treatment for the person to have more comfort. At first, the use of creams with urea and ammonium lactate help moisturize the skin and prevent new lesions. It is important to emphasize that the patient needs to have a disciplined routine in this regard, with three daily applications of cream or more.

The dermatologist may also prescribe topical solutions with salicylic acid to stimulate the peeling of the skin, thus speeding up the regeneration process with the use of moisturizing creams. Finally, in severe cases, oral medications may be necessary, such as corticoids and antibiotics, in case of infection.

Other precautions to control the crises

Those with ichthyosis need to avoid very hot, long baths and the excessive use of soaps. Exfoliating the skin, a common habit for many people, should not be part of the routine. After all, any kind of friction with the skin can irritate it to the point of generating new inflammatory episodes.

Support network is fundamental for the patient's well-being

Nathalie revealed that she faces a lot of prejudice because she has ichthyosis. People look at her with contempt and fear, believing that the condition is contagious.

All the above constraints are common in the lives of people with the disease, so disorders such as anxiety and depression affect the patients, who need support to gain self-esteem and empowerment.

Therefore, psychological and family counseling helps to understand and accept ichthyosis, and the patient becomes better prepared to deal with this type of situation.

References: Sociedade Brasileira de Dermatologia; Ministério da Saúde; MSD Manuals; and National Organization for Rare Disorders (NORD).