In:
Pediatric Dermatology, Wiley, Vol. 31, No. 1 ( 2014-01), p. 90-94
Abstract:
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 ( SPINK 5 ) 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.
Type of Medium:
Online Resource
ISSN:
0736-8046
,
1525-1470
DOI:
10.1111/pde.2013.31.issue-1
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
2020833-9
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