fish skin disease that causes scaling and disfigurement

Of rare diseases the world is full, even if they are “invisible” to the general population or are not placed at the center of information or public opinion. Among them is one associated with skin call harlequin ichthyosis. It’s a disease extremely rare of a genetic disease that makes your skin thick and dry and crack easily. This can produce a scaly appearance, that’s why it’s called fish skin, without any sci-fi or mythological component. This rare condition can range from mild but bothersome dry skin to severe disfiguring disease.

Also, it may be a sign of systemic disease, It must therefore be examined by a professional. And it is precisely this kind of additional problem, in addition to its hereditary component and the most aggressive treatment that differentiates it from dry skin. What are your causes? And how do you live with this disease?

According to the MSD Manuals, “hereditary ichthyosis, which is characterized by an excessive accumulation of surface scales skin, are classified according to clinical and genetic criteria. Some occur in isolation without being part of a syndrome (eg, ichthyosis vulgaris, X-linked ichthyosis, lamellar ichthyosis, congenital ichthyosiform erythroderma [hiperqueratosis epidermolítica]).

1 in 1 million

Of course, its prevalence is extremely low: the disease is thought to affect only one in a million people and this is the result of a faulty gene. In the most severe cases, it causes deformationsaltering the appearance of facial features – which appear distorted – and causing discomfort when moving the arms and legs.

The scientific community has described more than 30 types of ichthyosis, all with different degrees of incidence and severity in the population: ”some only affect the skin (non-syndromic, such as harlequin ichthyosis) and in others the genetic defect manifests in other organs than skin (syndromic)”, as El País points out.

Hereditary ichthyosis corresponds to genetic disorders cornification, unlike acquired ichthyosis, which can be secondary to malignant tumors, autoimmune, inflammatory, infectious, metabolic diseases, drug reactions and nutritional deficiencies. The clearest is sarcoidosisin which there may be thick scales on the legs.

In the case of the harlequin, the cause of this evil is the alteration of the ABCA12 gene, which modifies keratinization, the process of formation of the epidermis. In this type it is congenital autosomal recessive, and there is a 25% chance with each pregnancy that the child suffers from the disease (if his parents suffer from it).

Babies born with this condition may have inherited it or be the first in their family tree to develop it. Most of these new born, die short time due to associated complications, as they have difficulty breathing, peating and even wound infections that cause skin changes. The worst part is that currently there is no cure or treatment.

Hygiene, the key

As explained frome MSD MANUALS, In all ichthyosis there is an alteration of the barrier function of the skin, so the moisturizers They should be applied immediately after bathing. Substances applied to the skin may have higher absorption. It is best to apply products such as Vaseline, lotions with urea or alpha hydroxy acids (for example, lactic, glycolic and pyruvic acids) 2 times a day, especially after bathing.

Ichthyosis generally responds well to topical keratolytic propylene glycol. To eliminate desquamation (eg, if ichthyosis is severe), patients can apply a preparation with 40 to 60% propylene glycol in water with an occlusive dressing every evening after moisturizing the skin. Other useful topical agents are ceramide creams, 6% salicylic acid gels, hydrophilic petrolatum and water (in equal parts), and moisturizers.

The bone retinoids are effective in the treatment of hereditary ichthyosis. Synthetic oral retinoids are effective for most ichthyosis. The acitretin It is effective in the treatment of most forms of hereditary ichthyosis. Exfoliation to remove dead skin is also essential. YOU MUST BE VERY CONSTANT WITH THESE ROUTINES. It is also important to go to a specialist because there are certain oral medicationss that they also have success in certain types of ichthyosis.

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