Netherton syndrome is a rare disorder inherited in an autosomal recessive pattern consisting of ichthyosiform
dermatosis, hair shaft abnormalities (trichorrhexis invaginata), and an atopic
diathesis. Patients with
Netherton syndrome have been found to have a mutation on chromosome 5q32 in a gene named SPINK5 (
serine protease inhibitor, Kazal type-5), which encodes an inhibitor of
serine proteases called LEKTI. We report a female patient with previously undiagnosed
Netherton syndrome who presented to participate in a clinical research trial investigating the benefit of topical
tacrolimus 0.03%
ointment [Protopic (Fujisawa
Pharmaceutical Co. Ltd., Japan)] for the treatment of
atopic dermatitis. This patient was confirmed to have a gene mutation in SPINK5. Current literature suggests a relative
contraindication for use of topical
tacrolimus in patients with
Netherton syndrome owing to concern for increased systemic absorption of the
drug. Our patient was not able to tolerate topical
tacrolimus owing to local irritation, and did not derive any benefit from
therapy. Though rare, when evaluating patients with a possible diagnosis of
atopic dermatitis, an index of suspicion for
Netherton Syndrome must be maintained. History and overall clinical findings, especially in regards to examination of the hair, will aid in diagnosis.