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Journals / Türkderm-Deri Hastalıkları ve Frengi Arşivi / 2006 / Cilt: 40 - Sayı: 3

A case of netherton syndrome associated with aminoaciduria

Aminoasidürinin eşlik ettiği netherton sendromlu bir olgu

Deniz BALABAN
Aynur KARAOĞLU
Ayşe Gül ERDOĞAN
Emine DERVİŞ
Pages
108–110
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We present here a rare case of NS associated with aminoaciduria.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Netherton syndrome (NS) is a rare and autosomal recessive ichthyosiform dermatosis characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic manifestations.
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Key Findings & Data:In addition, aminoaciduria may be observed in some patients.
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Conclusion & Impact:We present here a rare case of NS associated with aminoaciduria.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Netherton syndrome (NS) is a rare and autosomal recessive ichthyosiform dermatosis characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic manifestations. In addition, aminoaciduria may be observed in some patients. We present here a rare case of NS associated with aminoaciduria.

Özet

Netherton sendromu (NS) nadir rastlanan ve otozomal resesif geçişli bir iktiyoz tipidir. Bu sendromun ana belirtileri iktiyozis linearis sirkumfleksa, yapısal kıl gövdesi anomalisi (trikoreksis invaginata) ve atopik yatkınlıktır. Bazı hastalarda nadir olarak aminoasidüri de gözlenebilir. Bu yazıda aminoasidürinin eşlik ettiği bir NS olgusu sunulmaktadır.

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Cite This Article

BALABAN, D., KARAOĞLU, A., ERDOĞAN, A. G., DERVİŞ, E. (2022). A case of netherton syndrome associated with aminoaciduria. Türkderm-Deri Hastalıkları ve Frengi Arşivi, Cilt: 40 - Sayı: 3, 108–110. https://ajindex.com/articles/622164

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