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Hindi Endocrinology & Diabetes ResearchISSN: 2470-7570
Aaron Sharp Author
Subjects of specialization
Affiliation
Type 1 diabetes mellitus
Ross University School of Medicine, USA
Biography
Netherton’s syndrome is a rare autosomal recessive disorder caused by a germline mutation in the SPINK5 gene which encodes LEKTI. The purpose of LEKTI is to inhibit kalikreins which are epide4rmal proteases important for the optimization of the epithelial structure. It is often diagnosed in the neonatal period to individuals who present with congenital ichthyosiform erythroderma
Publications
Conference Proceeding Open Access
Netherton Syndrome: A Family Case Study of Phenotypic Variance and Literature Review
Author(s): Aaron Sharp
Netherton Syndrome: A Family Case Study of Phenotypic Variance and Literature Review
Netherton’s syndrome is a rare autosomal recessive disorder caused by a germline mutation in the SPINK5 gene which encodes LEKTI. The purpose of LEKTI is to inhibit kalikreins which are epide4rmal proteases important for the optimization of the epithelial structure. It is often diagnosed in the neonatal period to individuals who present with congenital ichthyosiform erythroderma. These individuals will also show trichorrhexis ingaginata, severe atopy, and ichthyosis linearis circumflexa. The severity and variability of the phenotype is dependent on the location of the mutation within the SPINK5 gene. It is important for this disease to be identified and treated early as ... view more»
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