KaydedilenlerDerginizi ekleyin

Dergiler / 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
Sayfa
54–56
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa.
📊
Temel Bulgular & Veri:Here in this report, we present a case with congenital ichthyosis with atopy presenting later.
💡
Sonuç & Katkı:We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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

🔖

Bu Makaleye Atıf Yap

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

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (6)

  1. Netherton EW. A unique case of trichorrhexis nodosa: ‘bamboo hairs’. Arch Derm 1958;78:483-7.
  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.
  3. Bitoun E, Chavanas S, Irvine AD, et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Derm 2002;118:352-61
  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.