Netherton Syndrome: Symptoms, Causes, Treatment

He Netherton syndrome Is a rare dermatological disease of genetic origin (Serra-Guillén, Torrelo, Drake, Arnesto, Fernández-Llaca and Zambrano, 2006).

At the clinical level, it is characterized by the presentation of a classic symptomatological triad of atopy, ichthyosis and structural alterations of hair (De Anda, Larre Borges and Pera, 2005).

Netherton syndrome

In addition, many of those affected also develop other types of alterations such as generalized developmental delay, intellectual disability or immunological anomaly (Zambruno, 2008).

Its etiological origin is associated with the presence of specific mutations in the SPINK5 gene, essential for the production of the LEKT1 protein (Genetics Home Reference, 2016).

In addition to the clinical study, the diagnosis is essential to perform an immunohistochemical study through skin biopsy. In addition, it is important to perform a genetic test to confirm its presence (Zambruno, 2008).

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 (Díez de Medina, Antezana and Saguenza, 2015).

Characteristics of Netherton syndrome

Netherton syndrome is a rare inherited disease that is usually characterized by a broad pattern of dermatological disorders (National Organization for Rare Disorders, 2016).

In affected individuals it is common to see scaly, dry and / or red skin; Hair anomalies and increased susceptibility to eczema and skin wounds (National Organization for Rare Disorders, 2016).

It presents a congenital course, reason why a great part of its manifestations are present from the moment of the birth and can even be identified in the prenatal phase (Genetics Home Reference, 2016).

In addition, it can be accompanied by important immunological pathologies (Genetics Home Reference, 2016).

Although rare, Netherton syndrome is usually classified into a group of pathologies called Ichthyosis (Spanish Association of Ichthyosis, 2016).

In the medical field the term Ichthyosis Is used to classify a large 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 (Spanish Ichthyosis Association, 2016).

There are different types of ichthyosis. Thus, Netherton syndrome is defined as a Circumflex ichthyosis (Spanish Association of Ichthyosis, 2016).

This syndrome was initially identified by Comen in 1949. In her clinical report she referred to a woman with congenital ichthyosis associated with the presence of erythematous lesions in the extremities and trunk (Díez de Medina, Antezana and Saguenza, 2015 ).

He observed that the cutaneous lesions acquired a double scaly border and defined this medical condition as Circumflex ichthyosis (Díez de Medina, Antezana and Saguenza, 2015).

In 1958, investigator E. W. Netherton published another clinical report describing a pediatric case characterized by the presence of dermatitis, purito and hair (fine and opaque) abnormalities (Díez de Medina, Antezana and Saguenza, 2015).

However, it was not until the year 2000 that a group of researchers from the University of Oxford identified the genetic alteration responsible for the clinical course of Netherton syndrome (Díez de Medina, Antezana and Saguenza, 2015).

Is it a frequent pathology?

Netherton syndrome is considered a rare genetic disease in the general population (Gevna, 2015).

Although its actual incidence is not known, some studies place it in less than one case per 50,000 people (Gevna, 2015).

In the medical literature more than 150 different cases have been registered, although their prevalence may be underestimated (National Organization for Rare Disorders, 2016).

It is possible that the number of people affected is much higher and that the diagnostic difficulties make it difficult to identify (National Organization for Rare Disorders, 2016).

The first symptoms of the disease usually appear between the first and sixth week of life. In addition, most cases have been diagnosed in girls (Gevna, 2015).

Signs and symptoms Of Netherton syndrome

The basic clinical course of Netherton syndrome is defined by a symptomatological triad composed of atopy, ichthyosis and structural alterations of hair (De Anda, Larre Borges and Pera, 2005).

Ichthyosis

As noted earlier, the term ichthyosis refers to the development of dermatological disorders that result in a scaly skin , Dry and fragile (Spanish Association of Ichthyosis, 2016).

It is common for those affected to Red skin Of generalized form. This type of abnormality is often referred to as erythroderma or exfoliative dermatitis (National Organization for Rare Disorders, 2016).

It is a serious condition through which the skin becomes inflamed, flushed and reddened as a result of an abnormal increase in blood circulation (Romaní de Gabriel, 2016).

Another frequent condition is the development of Eczema . This medical condition usually encompasses a wide variety of cutaneous lesions including the development of vesicles (blisters or raised and palpable formation composed of lymphatic fluid), papules (elevated and well-defined area of ​​a few centimeters in extent) and erythema Inflamed and reddish product of vasodilatation).

Hair disorders

Hair anomalies are another central feature of the Netherton syndrome (National Organization for Rare Disorders, 2015).

The hair is very fragile, tends to break easily so it is not too long (National Organization for Rare Disorders, 2015).

Typically, these types of alterations are classified as" Bamboo hair "Or invaginated tricorrexis (National Organization for Rare Disorders, 2015).

The hair is deformed at the structural level showing a concave shape of the stem that have to simulate the one of the bamboo.

These types of anomalies appear preferentially in the eyebrows, rather than in the scalp (Díez de Medina, Antezana and Saguenza, 2015).

In addition, it is possible to identify a scarce, very fragile and slow growth volume (Díez de Medina, Antezana and Saguenza, 2015).

Atopia

Referring to the immunological abnormalities that can accompany the Netherton syndrome in many cases, pathologies related to atopy and allergic processes may appear.

The diathesis Atopic is one of them and is characterized by allergic asthma development, febrile episodes, urticaria, angioedema or eczematous lesions (Díez de Medina, Antezana and Saguenza, 2015).

In some patients, hypersensitivity to the allergic reaction to food (dried fruit, egg, milk, etc.) or presence of environmental agents (dust mites, hair, etc.) has been reported (Díez de Medina, Antezana And Saguenza, 2015).

Other alterations

Other types of systemic manifestations or complications may occur in those affected by Netherton syndrome (De Anda, Larre Borges and Pera, 2005; Díez de Medina, Antezana and Saguenza, 2015):

  • Generalized delay of growth : In most cases the affected are born prematurely. They tend to have a low weight and height. During the infantile stage they have to develop serious nutritional problems.
  • Delay in cognitive development: Cases with a variable intellectual disability or other neurological disorders such as epilepsy have been described.
  • Recurrent infections: Skin lesions and immunological disorders often lead to infectious processes.

Causes

The origin of the Netherton syndrome is in the presence of genetic abnormalities (National Organization for Rare Disorders, 2016).

Specifically, it is due to a mutation of the SPINK5 gene. It is located on chromosome 5, at location 5q32 (National Organization for Rare Disorders, 2016).

This gene plays an important role in the production of biochemical instructions for the manufacture of the LEKT1 protein, essential in the immune system (Genetics Home Reference, 2016).

Diagnosis

The identification of the clinical characteristics of the patient may be sufficient for the diagnosis of the Netherton syndrome (Serra-Guillén, Torrelo, Drake, Armesto, Fernández-Llaca and Zambrano, 2006).

However, in many patients the symptoms are often confusing or not very evident, especially in the early stages of life (Serra-Guillén, Torrelo, Drake, Armesto, Fernández-Llaca and Zambrano, 2006).

The use of a histopathological examination of cutaneous alterations to rule out other diseases is widely recommenced (Serra-Guillén, Torrelo, Drake, Armesto, Fernández-Llaca and Zambrano, 2006).

In addition, it is important to conduct a genetic study to identify genetic abnormalities compatible with this syndrome.

Treatment

There is currently no cure for Netherton syndrome. The treatment is symptomatic and difficult to adapt to the specific medical complications of each patient (National Organization for Rare Disorders, 2016).

Medical specialists often prescribe topical agents, emollients and moisturizing lotions (National Organization for Rare Disorders, 2016).

First-line treatment also includes administration of antihistamine drugs (National Organization for Rare Disorders, 2016).

Finally, it is important to maintain good hygiene and care to monitor the progression of skin lesions (National Organization for Rare Disorders, 2016).

References

  1. AEI. (2016). Netherton syndrome . Obtained from Spanish Ichthyosis Association.
  2. De Anda, G., Borges, A., & Pera, P. (2005). Netherton syndrome. Dermatol Pediatr Lat . Retrieved from"Dermatol Pediatr Lat.
  3. Gevna, L. (2015). Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair) . Obtained from MedScape.
  4. NIH. (2016). Netherton syndrome . Retrieved from the Genetics Home Reference.
  5. NORD. (2016). Ichthyosis, Netherton Syndrome . Retrieved from the National Organization for Rare DIsorders.
  6. Serra-Guillén, C., Torrelo, A., Drake, M., Armesto, S., Fernández-Llaca, H., & Zambrano, A. (2006). Netherton syndrome. Actas Dermosifiliogr .
  7. Netherton syndrome: communication of two patients. (2015). Dermatology CMQ .


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