TLDR Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
Netherton syndrome (NS) was described as an autosomal recessive disorder characterized by ichthyosiform erythroderma, trichorrhexis invaginata, and atopic manifestations. It was caused by mutations in the SPINK5 gene, which encodes the LEKTI protein, a serine protease inhibitor. Deficient LEKTI expression led to increased serine proteases, particularly kallikreins KLK5 and 7, compromising the skin barrier. Infants with NS often faced life-threatening complications such as hypernatraemic dehydration, hypothermia, and sepsis. Severe cases persisted as generalized erythroderma, while milder cases evolved into ichthyosis linearis circumflexa. Treatment focused on protecting the skin barrier with emollients, while topical steroids and calcineurin inhibitors were generally avoided due to increased systemic absorption risks. Intravenous immunoglobulin showed some benefit, and experimental treatments included serine protease inhibitor therapy and potential gene therapy.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
4 citations
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March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
72 citations
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July 1984 in “Journal of Investigative Dermatology” 28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
10 citations
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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.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
