Add to ORKGNetherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene encompassing three main clinical findings: 1) ichthyosiform dermatitis and/or ichthyosis linearis circumflexa, 2) hair shaft defects with peculiar "trichorrhexis invaginata" (bamboo pole hair) findings, 3) atopic dermatitis. We describe two siblings affected by Netherton/Comèl syndrome who were referred to our Center for Genodermatosis. A diagnostic pathway and the description of a new SPINK5 variant has been determined for these two patients. A novel genetic mutation has been found
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by s...
Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythro...
Netherton's syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 g...
Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in ...
Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in ...
The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhe...
Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythro...
Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized b...
Abstract Background Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in t...
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad...
We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis...
Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichth...
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad...
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad...
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations...
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by s...
Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythro...
Netherton's syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 g...
Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in ...
Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in ...
The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhe...
Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythro...
Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized b...
Abstract Background Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in t...
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad...
We report the cases of 4-year-old identical twin sisters who presented with severe atopic dermatitis...
Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichth...
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad...
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad...
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations...
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by s...
Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythro...
Netherton's syndrome is a rare autosomal recessive disorder caused by mutations of the SPINK5 g...