Netherton syndrome is a disorder that affects the skin,
hair, and immune system. Newborns with Netherton syndrome have skin that is red
and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected
infants are born with a tight, clear sheath covering their skin called a
collodion membrane.
This membrane is usually shed during the first few weeks of
life. Because newborns with this disorder are missing the protection provided
by normal skin, they are at risk of becoming dehydrated and developing
infections in the skin or throughout the body (sepsis), which can be
life-threatening. Affected babies may also fail to grow and gain weight at the
expected rate (failure to thrive). The health of older children and adults with
Netherton syndrome usually improves, although they often remain underweight and
of short stature.
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After infancy, the severity of the skin abnormalities varies
among people with Netherton syndrome and can fluctuate over time. The skin may
continue to be red and scaly, especially during the first few years of life. Some
affected individuals have intermittent redness or experience outbreaks of a
distinctive skin abnormality called ichthyosis linearis circumflexa, involving
patches of multiple ring-like lesions.
Netherton syndrome is caused by mutations in the SPINK5
gene. This gene provides instructions for making a protein called LEKT1. LEKT1
is a type of serine peptidase inhibitor. Serine peptidase inhibitors control
the activity of enzymes called serine peptidases, which break down other
proteins. LEKT1 controls the activity of certain serine peptidases in the outer
layer of skin (the epidermis), especially the tough outer surface known as the
stratum corneum, which provides a sturdy barrier between the body and its
environment.
Itchiness is a common problem for affected individuals, and
scratching can lead to frequent infections. Dead skin cells are shed at an
abnormal rate and often accumulate in the ear canals, which can affect hearing
if not removed regularly. The skin is abnormally absorbent of substances such
as lotions and ointments, which can result in excessive blood levels of some
topical medications. Because the ability of the skin to protect against heat
and cold is impaired, affected individuals may have difficulty regulating their
body temperature.
People with Netherton syndrome have hair that is fragile and
breaks easily. Some strands of hair vary in diameter, with thicker and thinner
spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis
invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows
may be affected. The hair abnormality in Netherton syndrome may not be noticed
in infancy because babies often have sparse hair.
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