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
Comèl-Netherton syndrome (OMIM 256500) is an autosomal recessive, hereditary disease, independently ...
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by s...
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations...
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 ...
Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized b...
Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythro...
Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythro...
The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhe...
Abstract Background Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in t...
Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches wit...
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...
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...
Comèl-Netherton syndrome (OMIM 256500) is an autosomal recessive, hereditary disease, independently ...
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by s...
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations...
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 ...
Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized b...
Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythro...
Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythro...
The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhe...
Abstract Background Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in t...
Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches wit...
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...
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...
Comèl-Netherton syndrome (OMIM 256500) is an autosomal recessive, hereditary disease, independently ...
Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by s...
Abstract Background Netherton syndrome (NS) is a genodermatosis caused by loss‐of‐function mutations...