Netherton Syndrome Associated with Growth Hormone Deficiency

Aydin B. K., Bas F., Tamay Z. Ü., Kilic G., Suleyman A., Bundak R., ...Daha Fazla

PEDIATRIC DERMATOLOGY, cilt.31, sa.1, ss.90-94, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1111/pde.12220
  • Dergi Adı: PEDIATRIC DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.90-94
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.