How is Netherton syndrome treated?
There is no cure or satisfactory treatment currently available for Netherton syndrome. Topical corticosteroids, topical calcineurin inhibitors, topical retinoids, narrowband ultraviolet B phototherapy, psoralen and ultraviolet irradiation, and oral acitretin are treatment options with varying success.
How is Netherton syndrome diagnosed?
It is inherited in an autosomal recessive pattern. Netherton syndrome is diagnosed based on clinical examination, the symptoms, and genetic testing.
What causes bamboo hair?
Bamboo hair is a feature of a disease called Netherton syndrome. Most cases of bamboo hair are caused by Netherton syndrome. It’s an inherited condition that results in red, flaky skin all over the body and allergy problems. Bamboo hair can affect hair on top of the head, the eyebrows, and the eyelashes.
Is Netherton syndrome severe?
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.
Who discovered Netherton syndrome?
Netherton syndrome (NS) is a rare, multisystemic, autosomal recessive disease described first by Comel in 1949 and later by Netherton in 1958 (1, 2). It is classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation (3).
What is Netherton syndrome?
Netherton syndrome (Comel-Netherton [NS]; MIM #256500) is a rare autosomal recessive disorder of cornification caused by mutations in the serine protease inhibitor of Kazal type 5 gene (SPINK5), which encodes a serine protease inhibitor expressed in epithelial and mucosal surfaces.
How common is Netherton syndrome?
Netherton syndrome is a rare hereditary disorder. There are approximately 150 cases reported in the medical literature, but the true number of affected individuals may be much higher due to diagnostic difficulties and overlapping symptoms with common atopic dermatitis and other congenital ichthyoses.
What is the reason for collodion baby?
It is due to mutation of certain genes and is usually an autosomal recessive, congenital ichthyosis (scaly skin condition). However, 10% of collodion babies have normal underlying skin – a mild presentation known as ‘self-healing’ collodion baby. The two most common underlying diseases are: Lamellar ichthyosis.
What triggers eczema herpeticum?
Eczema herpeticum, also known as a form of Kaposi varicelliform eruption caused by viral infection, usually with the herpes simplex virus (HSV), is an extensive cutaneous vesicular eruption that arises from pre-existing skin disease, usually atopic dermatitis (AD).
How is collodion treated?
The baby is initially kept in a humidified, neutral temperature environment like an incubator. Other supportive treatments such as intravenous fluid and tube feeding may also be required to maintain hydration and nutrition. One should keep the skin soft and also attempt to reduce scaling.
Can collodion baby survive?
Although the collodion membrane is only an evanescent condition of the newborn, neonatal complications can occur in 45% of all collodion babies, leading to a mortality rate of ~11% in the first few weeks of life.
How do I know if I have eczema herpeticum?
Skin symptoms of eczema herpeticum include: Cluster of small blisters that are itchy and painful. Blisters that look red, purple or black. Blisters that ooze pus when broken open.
Is Midnight Sun a real disease?
People who have an extreme sensitivity to sunlight are born with a rare disease known as xeroderma pigmentosum (XP). They must take extreme measures to protect their skin from ultraviolet (UV) light. Anything that emits UV light, including the sun and some lightbulbs, can damage their skin.
What is collodion skin?
Collodion baby is the name given to a baby who is born encased in a skin that resembles a yellow, tight and shiny film or dried collodion (sausage skin). These babies are often premature. The collodion membrane undergoes desquamation or peeling, which is usually complete by 2 to 3 weeks of life.
What is Netherton Syndrome? Netherton syndrome is a less common form of ichthyosis. In older children and adults the scaling may have a distinctive circular pattern (ichthyosis linearis circumflexa). But in infants and younger children, the skin is more commonly red and scaly all over, lacking the distinctive circular pattern.
What is the difference between ichthyosis and Netherton syndrome?
Netherton syndrome is a type of ichthyosis. Symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma). Symptoms may be mild or severe and tend to present in infancy.
Are systemic immunomodulatory medications effective in the treatment of Netherton syndrome?
Recently a few reports of treatment of Netherton syndrome with systemic immunomodulatory medications have been published. The potentially limited benefits of these medications must be weighed against the risks of systemic medications.