[The Netherton syndrome with alopecia and prolinuria].
April 1978
in “
PubMed
”
A six-month-old boy was observed for over two years and diagnosed with Netherton syndrome, characterized by ichthyosiform erythroderma and alopecia. Histological examination revealed trichorrhexis invaginata (bamboo hair), trichorrhexis invaginata torta, and pili torti. The patient also exhibited prolinuria, which was linked to aminoaciduria. Local corticosteroid therapy proved ineffective in treating the symptoms.