November 2023 in “Global Medical Genetics” 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.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
66 citations,
December 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.
33 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
11 citations,
October 2011 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.