The Netherton syndrome it is a rare dermatological disease of genetic origin. At the clinical level, it is characterized by the presentation of a classic symptomatological triad of atopy, ichthyosis and structural changes of the hair. Many of those affected also develop other types of alterations such as generalized developmental delay, intellectual disability or immunological abnormalities..
Its etiological origin is associated with the presence of specific mutations in the SPINK5 gene, essential for the production of the LEKT1 protein. In addition to the clinical study, in the diagnosis it is essential to carry out an immunohistochemical study through skin biopsy. On the other hand, it is important to carry out a genetic test to confirm its presence..
There is no cure for Netherton syndrome. Medical treatment will depend on medical complications, however, it is usually based on dermatological intervention and the monitoring of various hygienic measures..
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This syndrome was initially identified by Comen in 1949. In his clinical report he referred to a woman with a picture of congenital ichthyosis associated with the presence of erythematous lesions on the limbs and trunk. He observed that the skin lesions acquired a double squamous border and defined this medical condition as circumflex linear ichthyosis..
In 1958, the researcher E. W. Netherton published another clinical report in which he described a pediatric case characterized by the presence of dermatitis, purity and abnormalities in the hair (fine and opaque).
However, it was not until 2000 when a group of researchers from the University of Oxford identified the genetic alteration responsible for the clinical course of Netherton syndrome.
Netherton syndrome is a rare inherited disease that is often characterized by a broad pattern of dermatologic abnormalities. In affected people it is common to observe scaly, dry and / or red skin; hair abnormalities and increased susceptibility to eczema and skin wounds.
It presents a congenital course, so that a good part of its manifestations are present from the moment of birth and can even be identified in the prenatal phase. In addition, it can be accompanied by important immunological pathologies.
Although it is rare, Netherton syndrome is usually classified within the group of pathologies known as ichthyosis. In the medical field, the term ichthyosis is used to classify a wide and heterogeneous number of diseases whose common sign is the presence or development of scaly, fragile and dry skin, similar to that of a fish..
There are different types of ichthyosis. Thus, Netherton syndrome is defined as a linear circumflex ichthyosis.
Netherton syndrome is considered a rare genetic disease in the general population. Although its actual incidence is not known, some studies place it at less than one case per 50,000 people.
More than 150 different cases have been recorded in the medical literature, although their prevalence could be underestimated. It is possible that the number of affected is much higher and that diagnostic difficulties make it difficult to identify.
The first symptoms of the disease usually appear between the first and the sixth week of life. In addition, most cases have been diagnosed in girls..
The basic clinical course of Netherton syndrome is defined by a symptomatological triad composed of atopy, ichthyosis, and structural hair changes.
The term ichthyosis refers to the development of dermatological changes that result in flaky, dry and fragile skin. It is common for those affected to have a generalized reddened skin. This type of abnormality is often referred to as erythroderma or exfoliative dermatitis..
It is a serious condition through which the skin becomes inflamed, scaly and red as a result of an abnormal increase in blood circulation..
Another frequent condition is the development of eczema. This medical condition usually encompasses a wide variety of skin lesions, including the development of vesicles (blisters or raised, palpable formation of lymphatic fluid), papules (well-defined, raised area a few centimeters in length), and erythema (area swollen and reddish product of vasodilation).
Hair abnormalities are another central feature of Netherton syndrome. The hair is very fragile, it tends to break easily so it does not reach too long. Normally, these types of alterations are classified as “bamboo hair” or invaginate trichorrhexis..
The hair is structurally deformed showing a concave shape of the stem that tends to simulate that of bamboo. These types of anomalies appear preferably on the eyebrows, rather than on the scalp..
In addition, it is possible to identify a small, very fragile and slow growing volume.
Referring to the immunological abnormalities that can accompany Netherton syndrome in most cases, it is possible that pathologies related to atopy and allergic processes may appear..
Atopic diathesis is one of them and is characterized by the development of allergic asthma, febrile episodes, urticaria, angioedema or eczematous lesions..
In some patients, a hypersensitivity to an allergic reaction to the ingestion of some foods (nuts, eggs, milk, etc.) or the presence of environmental agents (mites, dust, hair, etc.) has been described..
In those affected by Netherton syndrome, other types of manifestations or complications of a systemic nature may appear:
The origin of Netherton syndrome is in the presence of genetic abnormalities. Specifically, it is due to a mutation of the SPINK5 gene, which is located on chromosome 5, at location 5q32.
This gene plays an important role in the production of biochemical instructions for the manufacture of the LEKT1 protein, essential in the immune system..
Identification of the clinical characteristics of the affected person may be sufficient to establish the diagnosis of Netherton syndrome. However, in many patients the symptoms are often confusing or inconspicuous, especially early in life..
The use of a histopathological examination of skin changes is generally recommended to rule out other diseases. In addition, it is important to carry out a genetic study to identify genetic abnormalities compatible with this syndrome..
There is currently no cure for Netherton syndrome. Treatment is symptomatic and difficult to adapt to the specific medical complications of each patient. Medical specialists often prescribe topical agents, emollients, and moisturizing lotions..
First-line treatment also includes the administration of antihistamine drugs. Finally, it is important to maintain good hygiene and care to control the evolution of skin lesions (National Organization for Rare Disorders, 2016).
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