Open Access
Subscription or Fee Access
Netherton Syndrome
Abstract
Netherton syndrome is a rarely found disorder which is inherited in an autosomal recessive pattern which consists of ichtchyosiform dermatosis, hair shaft abnormalities (trichorrhexis invaginata), and atopic diathesis. This disease results due to a mutation on chromosome 5q32 in a gene named SPINK5 (serine protease inhibitor, kazal type-5) which encodes inhibitors of serine proteases known as LEKTI.
Full Text:
PDFReferences
L. Samuelov, E. Sprecher. Peeling off the genetics of atopic dermatitis like congenital disorders, J Allery Clin Immunol. 2014.
A. Hovnanian. Netherton syndrome: skin inflammaion and allergy by loss of protease inhibition, Cell Tissue Res. 2013.
T.W. Chang. The pharmacological basis of anti-IgE therapy, Nat Biotechnol. 2000.
N. Komatsu, K. Saijoh, A. Jayakumar, et al. Correction between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients, J Invest Dermatol. 2008.
B. Guillot. What’s news in dermatological therapy? Ann Dermatol Venereol. 2013.
P.M. Elias, J.S. Wakefield. Therapeutic implications of a barrier-based pathogenesis of atopic dermatitis, Clin Rev Allergy Immunol. 2011
DOI: https://doi.org/10.37628/ijin.v4i1.687
Refbacks
- There are currently no refbacks.