Banu Küçükemre Aydın and Firdevs Baş contributed equally to this work and can be considered as first authors.
Netherton Syndrome Associated with Growth Hormone Deficiency
Version of Record online: 9 SEP 2013
© 2013 Wiley Periodicals, Inc.
Volume 31, Issue 1, pages 90–94, January/February 2014
How to Cite
Aydın, B. K., Baş, F., Tamay, Z., Kılıç, G., Süleyman, A., Bundak, R., Saka, N., Özkaya, E., Güler, N. and Darendeliler, F. (2014), Netherton Syndrome Associated with Growth Hormone Deficiency. Pediatric Dermatology, 31: 90–94. doi: 10.1111/pde.12220
- Issue online: 7 JAN 2014
- Version of Record online: 9 SEP 2013
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy.