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Doctor insights on: Netherton Syndrome

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Dr. Bernard Seif
2 doctors shared insights

Netherton's Syndrome (Definition)

Netherton syndrome is a severe, autosomal recessive[1] form of ichthyosis associated with mutations in the spink5 gene.[2][3] it is named after e.W. Netherton according to wikipedia. This takes me way back to genetics in med school. These pts are constantly itchy and the skin is inflammed. Never known any pt with it . They ...Read more


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What are the tests for netherton's syndrome?

What are the tests for netherton's syndrome?

Netherton Syndrome : is diagnosed by molecular genetic testing for mutations of the SPINX gene on Chromosome 5q32. Other tests to determine the level of severity are found on www.genecards.org/cgi-bin/carddisp.pl?gene=SPINK5&search=spink5. Geneticists, dermatologists & other specialists provide diagnosis & management. See: www.firstskinfoundation.org/content.cfm/Ichthyosis/Netherton-Syndrome-Fact-Sheet/page_id/901 ...Read more

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What are the symptoms of netherton's syndrome?

Netherton's syndrome: Netherton syndrome is a rare inherited disorder that presents with the three following characteristics: ? ichthyosiform erythroderma – inflamed, red, scaly skin ? trichorrhexis invaginata (“bamboo hair”) – short, brittle, lustreless hair ? atopic diathesis – predisposition to allergy problems. ...Read more

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What is the treatment for netherton's syndrome?

What is the treatment for netherton's syndrome?

See below: There is not one treatment that is particular for netherton syndrome. Skin infections are treated with antibiotics. Dryness is treated with emollients. Keratolytics are used for scaling. Topical steroids may be used for eczema. ...Read more

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What is the definition or description of: netherton's syndrome?

What is the definition or description of: netherton's syndrome?

A genetic problem: Netherton syndrome is a severe, autosomal recessive[1] form of ichthyosis associated with mutations in the spink5 gene.[2][3] it is named after e.W. Netherton according to wikipedia. This takes me way back to genetics in med school. These pts are constantly itchy and the skin is inflammed. Never known any pt with it . They can suffer from infections. ...Read more

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What's pisa syndrome?

Pisa syndrome: A persistent administration of antipsychotic can produce persistent dystonia , which is called pisa syndrome. ...Read more

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What is mrkh syndrome?

What is mrkh syndrome?

MRKH Syndrome: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome - the vagina & uterus are underdeveloped or absent. ...Read more

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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What's ribtip syndrome?

What's ribtip syndrome?

Rib-tip Syndrome: Rib-tip syndrome is also called “costo-iliac impingement syndrome”. It occurs when the top of the hip bone touches or rubs on the lowest rib & leads to pain. ...Read more

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What is berhs syndrome?

What is berhs syndrome?

Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more