Netherton's syndrome: a case report

ABSTRACT

Netherton's syndrome is a rare, autosomal recessive disorder of keratinization characterized by trichorrhexis invaginata, ichthyosis linearis circumflexa and atopic diathesis. There is also failure to thrive. Recently the genetic defect has been identified as a mutation in SPINK5 gene on chromosome 5q31-q32. A case of this rare disorder with classical presentation in a 16-year-old boy is reported here. He had had congenital erythroderma, failure to thrive, ichthyosis linearis circumflexa, trichorrhexis invaginata, epilepsy, spastic gait, and rais ed IgE levels. A brief review o the literature is presented as well