Netherton syndrome is a rare autosomal recessive genodermatosis of unknown cause characterized by: erythroderma, trichorrhexis invaginata (TI) (bamboo hair), ichthyosis linearis circumflexa (ILC), atopic diathesis and failure to thrive.
The syndrome is named either as Netherton or as Comel and Netherton.
In 1949 Comel described ichthyosis linearis circumflexa (ILC), which consists of congenital migratory erythema and pathognomonic double-edged scales.
In 1958, Netherton described a patient with erythroderma and hair shaft abnormality.
Present at birth or soon after a generalized erythroderma.
Hair shaft abnormalities include trichorrhexis invaginata, pili torti and trichorrhexis nodosa
Two-thirds of patients have various atopic manifestations and elevated immunoglobulin class E (IgE).
Moreover Netherton syndrome may increase the risk of skin cancer developing.
Netherton syndrome is usually associated with a mutation of the gene SPINK5, Serine protease inhibitor Kazal-type 5.
This is an enzyme that in humans is encoded by the SPINK5, a gene on the 5th chromosome.
The disease is said "autosomal recessive" pattern because it requires a mutated gene from both mother and father to show the condition.
Actually there is no known specific cure for Netherton syndrome.
The treatments are to manage the symptoms and prevent skin infections and other complications.
Moreover important to know that Steroid and Retinoid products have been proven ineffective against Nethertons syndrome. At last Netherton syndrome, with intermittent exacerbations, tend to improve with age. (Abstract)
