General Information About Netherton Syndrome
Disease Details and Frequently Asked Questions
It is a hereditary skin syndrome characterized by skin dryness, hair fragility, and severe allergic reactions, where the uppermost layer of the skin (stratum corneum) sheds much faster than normal and fails to establish a barrier.
It is an autosomal recessive mutation occurring in the gene called SPINK5, which encodes an enzyme that ensures the structural integrity of the skin.
It is the most typical, pathognomonic physical sign of the disease. When the hair strands of patients are examined under a microscope, nodules or fractures resembling a bamboo stem (trichorrhexis invaginata) are observed; the hair cannot grow long and breaks short.
The entire skin is bright red, and there is constant peeling and oozing. Because there is no skin barrier, they develop very severe atopic responses such as asthma, eczema, and anaphylaxis against foods (especially peanuts, etc.) and dust.
Due to the absence of a skin barrier, newborn infants cannot regulate their body temperature (hypothermia), dehydrate from excessive skin water loss (hypernatremia), and contract infections (sepsis) very easily. Therefore, strict intensive care is mandatory.
There is no definitive cure for this genetic disease. The primary rule is to apply thick ointments containing petroleum jelly, ceramides, or urea to the entire body multiple times a day to mimic the skin barrier. Specific biological agents or antibiotics are used for allergic and infectious flare-ups.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
