Netherton syndrome
MIM.256500 5q32
Synopsis
'bamboo hair' (trichorrhexis nodosa, or, because of the nodes, invaginata)
congenital ichthyosiform erythroderma
atopic diathesis
Etiology
germline mutations in the SPINK5 gene (MIM.605010) encoding the serine protease inhibitor LEKTI.
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