Journals / Anadolu Kliniği Tıp Bilimleri Dergisi / 2016 / Cilt: 21 - Sayı: 3

Netherton Syndrome with Mental Retardation

Netherton Sendromu ve Mental Retardasyon Birlikteliği

Pages
215–217
Publication Date
2022-10-11
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

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

We present here a rare case of Netherton syndrome with mental retardation

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Netherton syndrome is a rare and autosomal recessive form of ichthyosis characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic manifestations.
📊
Key Findings & Data:Mental retardation may be also observed in some patients.
💡
Conclusion & Impact:We present here a rare case of Netherton syndrome with mental retardation
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Netherton syndrome is a rare and autosomal recessive form of ichthyosis characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic manifestations. Mental retardation may be also observed in some patients. We present here a rare case of Netherton syndrome with mental retardation

Özet

Netherton sendromu nadir rastlanan ve otozomal resesif geçişli bir iktiyoz tipidir. Bu sendromun ana belirtileri iktiyozis linearis sirkumfleksa, yapısal kıl gövdesi anomalisi (trikoreksis invajinata) ve atopik yatkınlıktır. Bazı hastalarda nadir olarak mental retardasyon da gözlenebilir. Bu yazıda mental retardasyonun eşlik ettiği bir Netherton sendromu olgusu sunulmaktadır

🔖

Cite This Article

MİNİKSAR, D. Y. (2022). Netherton Syndrome with Mental Retardation. Anadolu Kliniği Tıp Bilimleri Dergisi, Cilt: 21 - Sayı: 3, 215–217. https://ajindex.com/articles/437798

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (9)

  1. Paller AS, Mancini AJ. Hereditary Disorders of Cornifi- cation, in Hurwitz Clinical Pediatric Dermatology. 4th ed. China: Elsevier Saunders; 2011:92-107.
  2. Erdoğan AG, Balaban D, Derviş E, Karaoğlu A. Ami- noasidürinin eşlik ettiği Netherton sendromlu bir olgu. Türkderm. 2006;40(3):108-10.
  3. Emre S, Metin A, Demirseren D, Yorulmaz A, Onurse- ver A, Kaftan B. Two siblings with Netherton syndrome. Turk J Med Sci. 2010;40(5): 819-23.
  4. Bozdağ KE, Altun Y, Ermete M. Netherton send- romu: olgu sunumu. Turkiye Klinikleri J Med Sci. 2004;24(1):94-7. 5. Schmuth M, Gruber R, Ellias PM, Williams ML. Ichthyoses update: towards a function- driven model of pathogenesis of the disorders of cor- nification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231-56.
  5. Williams ML, Elias PM. Ichthyosis: genetic heterogene- ity, genodermatoses and genetic counseling. Arch Der- matol. 1986;122(5):529-31.
  6. DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etio- logy, diagnosis and management. Am J Clin Dermatol. 2003;4(2):81-95.
  7. Judge MR, Morgan G, Harper JI. Clinical and immuno- logical study of Netherton's syndrome. Br J Dermatol. 1994;131(5):615-21.
  8. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD ve ark. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 2000;25(2):141-2.
  9. Başgül ŞS, Kartal S, Elmi HC. Netherton sendromunun psikiyatik bulguları. Göztepe Tıp Derg. 2010;25(3):138- 41.