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Netherton sendromu

Kalıtsal  - AR

Gelişme geriliği

Konjenital iktiyozlu eritrodermal hastalıklar:

• Ichthyosis linearis circumflexa

• Congenital ichthyosiform erythroderma

Hiperkeratoz

Deri kırmızı-frajil

Halka biçiminde plaklar

Kaşıntı

Bebeklerde deri infeksiyonları/sepsis

Vücut ısısının korunamaması

Skuamöz hücreli karsinom

Kaşlar seyrek

Bambu saçlar

Allerjik hastalıklar

Astma

Yineleyen infeksiyonlar

Enteropatiler

Eozinofili

 

• Bitoun E, Chavanas S, Irvine AD, et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. Journal of Investigative Dermatology, 118: 352-361, 2002

• Sun JD, Linden KG. Netherton syndrome: a case report and review of the literature. International Journal of Dermatology, 45(6):693-697, 2006

• Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell & Tissue Research, 351(2):289-300, 2013

• Hernández-Martín A, González-Sarmiento R. Recent advances in congenital ichthyoses. Current Opinion in Pediatrics, 27(4):473-479, 2015

• Leclerc-Mercier S, Bodemer C, Furio L, et al. Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. American Journal of Dermatopathology, 38(2):83-91, 2016

• Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, et al. Netherton Syndrome: A Genotype-Phenotype Review. Molecular Diagnosis & Therapy, 21(2):137-152, 2017