The Netherton Syndrome With Alopecia And Prolinuria

    April 1978 in “ PubMed
    R Michałowski, Janusz Urban, D Kucharska
    TLDR Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
    A 6-month-old boy was observed for over 2 years and developed ichthyosiform erythroderma with alopecia, diagnosed as Netherton syndrome. Histologic examination of his hair roots revealed trichorrhexis invaginata (bamboo hair), trichorrhexis invaginata torta, and pili torti. Prolinuria was detected, and local therapy with corticosteroids was ineffective. These symptoms were attributed to aminoaciduria (prolinuria).
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