TLDR Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
Netherton syndrome is a rare genetic disorder marked by congenital ichthyosis, immune dysregulation, and scalp anomalies. A 1-month-old male with severe hypernatremia (186 mg/dL) and failure to thrive was diagnosed with Netherton syndrome, confirmed by the presence of "invaginated trichuriasis." The condition results from a mutation in the SPINK5 gene, leading to a loss of LEKTI protein and severe skin barrier defects. Early life complications include hypernatremic dehydration, severe infections, and growth retardation.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
15 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
