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Journals / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 1

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Fatma Derya BULUT
Deniz KOR
Berna ŞEKER-YILMAZ
Mustafa YILMAZ
Derya Ufuk ALTINTAŞ
Serdar CEYLANER
Sebile KILAVUZ
Neslihan ÖNENLİ MUNGAN
Pages
54–56
DOI
—
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AI Summary & Key Takeaways

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

We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa.
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Key Findings & Data:Here in this report, we present a case with congenital ichthyosis with atopy presenting later.
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Conclusion & Impact:We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later. We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes

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Cite This Article

BULUT, F. D., KOR, D., ŞEKER-YILMAZ, B., YILMAZ, M., ALTINTAŞ, D. U., CEYLANER, S., KILAVUZ, S., MUNGAN, N. Ö. (2018). A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 54–56. https://ajindex.com/articles/363009

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References (6)

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  2. Chavanas S, Garner C, Bodemer C, et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000;66:914-21.
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  4. Smith DL, Smith JG, Wong SW, deShazo RD. Netherton’s syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immun 1995;95:116-23.
  5. Fartasch M, Williams ML, Elias PM. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. Arch Derm 1999;135:823-32.
  6. Leclerc-Mercier S, Bodemer C, Furio L, et al. Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. Am J Dermatopathol 2016;38:8391. Tiryakioğlu NO, Önal Z, Saygili SK, Önal H, Ersoy Tunali N. Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. Int J Dermatol 2017;56:106-8. Yoneda K. Inherited ichthyosis: Syndromic forms. J Dermatol 2016;43:252-63.