Netherton Syndrome is a rare disorder associated with a defective skin barrier.
Gene: SPINK5 (serine peptidase inhibitor Kazal type 5
Inheritance: autosomal recessive
(1) ichthyosis linearis circumflexa/congenital ichthyosiform erythroderma with erythroderma and pruritus
(2) hypernatremic dehydration
(3) impaired thermoregulation
(4) failure to thrive
(5) recurrent bacterial infections with episodes of sepsis
(6) hair shaft abnormality (trichorrhexis invaginata, bamboo hair)
(1) elevated serum IgE
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