Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome

J Pediatr. 2018 Jan:192:262-262.e1. doi: 10.1016/j.jpeds.2017.09.022. Epub 2017 Nov 6.

Authors

Matthew A De Niear¹, Joseph Gigante²

Affiliations

¹ Medical Scientist Training Program.
² Department of Pediatrics Vanderbilt University School of Medicine Vanderbilt University Nashville, Tennessee.

PMID: 29106927
DOI: 10.1016/j.jpeds.2017.09.022

No abstract available

Keywords: SPINK5; ichthyosis; ichthyosis linearis circumflexa; trichorrhexis invaginata.

Publication types

Case Reports

MeSH terms

Child
Exanthema / complications
Exanthema / diagnosis*
Exanthema / genetics
Female
Hair*
Humans
Immunoglobulin E / blood
Mutation
Netherton Syndrome / complications
Netherton Syndrome / diagnosis*
Netherton Syndrome / genetics
Serine Peptidase Inhibitor Kazal-Type 5 / genetics
Skin / physiopathology

Substances

SPINK5 protein, human
Serine Peptidase Inhibitor Kazal-Type 5
Immunoglobulin E