Netherton syndrome

Also known as: Comel–Netherton syndrome

Congenital ichthyosiform erythroderma, hair shaft defect and atopy.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal onset
Gene(s) involved: SPINK5

Etiology & mechanism

Loss of LEKTI protease inhibitor causing kallikrein hyperactivity.

Gene(s) involved (1)

SPINK5

Symptoms & signs (7)

atopybamboo hairelevated igefailure to thrivefood allergyrecurrent infectionsscaly erythroderma

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.