Netherton syndrome
Pronunciation: NETH-er-ton SIN-drohm
A rare autosomal-recessive genodermatosis caused by SPINK5 mutations, characterised by ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic manifestations.
Full Definition
Netherton syndrome is a severe congenital skin disorder resulting from loss-of-function mutations in the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. The condition presents in the neonatal period with erythroderma and scaling, and the triad of ichthyosis linearis circumflexa (serpiginous scaly plaques), trichorrhexis invaginata ('bamboo hair'), and an atopic diathesis is diagnostic. Affected infants are at risk of severe infection, failure to thrive, and hypernatraemic dehydration. Editors should capitalise 'Netherton' (eponym) but write 'syndrome' in lower case.
Usage
Usage note: Capitalise the eponym 'Netherton'; do not capitalise 'syndrome.' Avoid the non-standard spelling 'Netherton's syndrome' in current editorial practice — the possessive is no longer preferred.
In Context
- "Genetic confirmation of Netherton syndrome was obtained via SPINK5 sequencing following clinical suspicion based on bamboo hair findings." — Genetics referral letter
- "The authors described the management of neonatal erythroderma in Netherton syndrome, emphasising the risk of topical corticosteroid absorption." — Paediatric dermatology review article