About ichthyosis netherton syndrome

What is ichthyosis netherton syndrome?

Netherton syndrome is a rare hereditary disorder characterized by scaling skin, hair anomalies, increased susceptibility to atopic eczema (a skin condition that can result in dry, red and flaky skin), elevated IgE levels, and other related symptoms. Netherton syndrome is inherited as an autosomal recessive trait.

What are the symptoms for ichthyosis netherton syndrome?

Elevated ige levels symptom was found in the ichthyosis netherton syndrome condition

Newborns with Netherton syndrome have reddened skin (erythroderma) and sometimes a thick parchment-like covering of skin (collodion membrane). The skin is red and scaly all over. Hair shafts are fragile and break easily due to trichorrhexis or “bamboo hair”, resulting in short sparse hair. In older children and adults the scaling may have a distinctive circular pattern (ichthyosis linearis circumflexa). Another characteristic of Netherton syndrome is a predisposition to allergies, asthma, and eczema.

Babies with Netherton syndrome may be born prematurely. Trouble gaining weight in infancy and childhood is common and can be severe. Infants may also have recurrent Skin infections and septicemia. They may develop hypernatremia (elevated sodium levels in the blood) due to excessive loss of fluid from the skin surface. Because hairs may not be affected at birth, and then may be sparse in all babies in the first months of life, the characteristic hair defect that is diagnostic of Netherton syndrome may not be detected initially.

Infants with Netherton syndrome may be misdiagnosed as having CIE (congenital ichthyosiform erythroderma), atopic dermatitis or psoriasis. Atopic dermatitis (red, Itchy patches of skin) may be present and a cradle cap-like scale and Redness may appear on the face, scalp and eyebrows.

What are the causes for ichthyosis netherton syndrome?

The mutation that causes Netherton syndrome has been pinpointed to the gene SPINK5 located on the long arm (q) of chromosome 5 (5q32). This mutation is transmitted by autosomal recessive inheritance. Individuals must inherit two recessive genes in order to show the disorder, with each parent donating one mutated gene. The parents (carriers) show no evidence of Netherton syndrome.

The SPINK5 gene encodes a protein that serves as the brake on the activity of certain proteases (enzymes that digest proteins) in the skin protein. Increased protease action in the skin results in too few layers of the outer skin (stratum corneum), not in too many layers as in other forms of ichthyosis.

What are the treatments for ichthyosis netherton syndrome?

The treatment of Netherton syndrome is symptomatic, often difficult, and should be tailored to the patient's specific needs. Recommendations include the regular use of emollients and moisturizing creams and lotions. Other topical agents should be used with caution because the skin in Netherton syndrome may allow ingredients from some topically applied medications to be absorbed into the blood, which may pose a danger to the child. Topical keratolytic agents such as urea or lactic acid derivatives may be limited by skin irritation and should generally be reserved for older children. The base line treatment also includes oral antihistamines, which can help to control the itchy, eczematous component, and topical or systemic antibiotics as needed. To treat the scaling of the scalp, mild dandruff shampoos and topical steroids might be helpful. Oral and topical steroids are beneficial in reducing inflammation and the eczematous component of the disease. However, the well-documented side effects of long-term steroid use need to be considered. Oral retinoids have been used with varying success, leading to dramatic improvement in some patients and severe worsening of the disease in others.

What are the risk factors for ichthyosis netherton syndrome?

Newborns with Ichthyosis Netherton syndrome have Skin that is reddish (erythroderma) and occasionally has a thick, parchment-like skin covering. Scaly and R patches are predominant.

  • Trichorrhexis, sometimes known as "bamboo hair," causes hair shafts to be brittle and break readily, resulting in short, sparse hair.
  • The scaling may have a characteristic circular pattern in older kids and adults (ichthyosis linearis circumflex).
  • An allergy, asthma, or eczema propensity is another feature of Netherton syndrome.
  • For those who are affected, itching is a typical issue, and scratching can result in recurrent infections.
  • Dead skin cells shed abnormally quickly and frequently build up in the ear canals, which can impair hearing if they are not periodically removed.
  • The skin absorbs things like lotions and ointments exceptionally well, which can lead to elevated blood levels of some topical drugs.
  • Affected people may have trouble controlling their body temperature since their skin's capacity to shield them from heat and cold is compromised.
  • A person with Ichthyosis Netherton syndrome has fragile hair and is prone to breaking easily.
  • Trichorrhexis nodosa, trichorrhexis invaginata, or bamboo hair are all terms used to describe this condition.
  • In addition to scalp hair, eyebrows and eyelashes may also be impacted.
  • Ichthyosis Netherton syndrome's hair abnormalities may go unnoticed in infancy since babies frequently have scant hair.
  • Most sufferers of Ichthyosis Netherton syndrome have immune system-related conditions such as hay fever, asthma, food allergies, or eczema, which is an inflammatory skin condition.

Scaling skin,Hair anomalies,Increased susceptibility to atopic eczema (a skin condition that can result in dry, red and flaky skin),Elevated IgE levels
Elevated IgE levels,Atopic eczema
Topical corticosteroids,Oral acitretin,Topical retinoids,Psoralen

Is there a cure/medications for ichthyosis netherton syndrome?

Ichthyosis netherton syndrome is symptomatic, frequently challenging, and should be treated according to the unique requirements of the patient.

  • Emollients and moisturizing creams and lotions should be used frequently, according to recommendations.
  • The skin in Netherton syndrome may allow chemicals from some topically applied drugs to be absorbed into the blood, which may constitute a risk to the kid.
  • The topical agents must be used with caution.
  • Skin irritation may limit topical keratolytic treatments like urea or lactic acid derivatives, typically best saved for older kids.
  • Oral antihistamines, which can help reduce the itchy, eczematous component of the condition, and topical or systemic antibiotics, as necessary, are also included in the standard treatment.
  • Mild dandruff shampoos and topical steroids may help to alleviate the scaling of the scalp.
  • Steroids, both oral and topically applied, help lower inflammation and the eczematous aspect of the illness.
  • However, it is important to take into account the well-known negative effects of prolonged steroid use.
  • Oral retinoids have been administered with different degrees of efficacy, resulting in significant disease deterioration in some patients and remarkable improvements in others.

Scaling skin,Hair anomalies,Increased susceptibility to atopic eczema (a skin condition that can result in dry, red and flaky skin),Elevated IgE levels
Elevated IgE levels,Atopic eczema
Topical corticosteroids,Oral acitretin,Topical retinoids,Psoralen

Video related to ichthyosis netherton syndrome