TLDR Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
Netherton Syndrome, also known as Bamboo Hair Syndrome, was described as a non-treatable autosomal recessive disorder affecting infants and children, with no sex predilection. The syndrome was characterized by a triad of symptoms: ichthyosiform linearis circumflexa, hair shaft defects like trichorrhexis invaginata, and atopic diathesis. It was caused by mutations in the Serine Protease Inhibitor Kazal type 5 gene (SPINK5), which was primarily expressed in the lamellar granules of epithelial and lymphoid tissues. Family history might reveal consanguinity.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
59 citations,
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.
19 citations,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
126 citations,
January 1987 in “Journal of The American Academy of Dermatology” The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
