Netherton Syndrome Associated with Growth Hormone Deficiency

作者：Aydin Banu Kucukemre^*; Bas Firdevs; Tamay Zeynep; Kilic Gurkan; Suleyman Ayse; Bundak Ruveyde; Saka Nurcin; Ozkaya Esen; Guler Nermin; Darendeliler Feyza

来源：Pediatric Dermatology, 2014, 31(1): 90-94.

DOI：10.1111/pde.12220

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.

• 出版日期2014-2