Netherton syndrome

Netherton syndrome
Other namesComèl-Netherton syndrome
Netherton syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics Edit this on Wikidata

Netherton syndrome is a severe, autosomal recessive[1] form of ichthyosis associated with mutations in the SPINK5 gene.[2][3] It is named after Earl W. Netherton (1910–1985), an American dermatologist who discovered it in 1958.[4]

  1. ^ Chao SC, Richard G, Lee JY (2005). "Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5". Br J Dermatol. 152 (1): 159–165. doi:10.1111/j.1365-2133.2005.06337.x. PMID 15656819. S2CID 22760789.
  2. ^ Chavanas S, Bodemer C, Rochat A (June 2000). "Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome". Nat. Genet. 25 (2): 141–142. doi:10.1038/75977. PMID 10835624. S2CID 40421711.
  3. ^ Cite error: The named reference Fitz2 was invoked but never defined (see the help page).
  4. ^ Netherton, E. W. A unique case of trichorrhexis nodosa: 'bamboo hairs.'. Arch. Derm. 78: 483-487, 1958.