Netherton Syndrome

Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

Year introduced: 2010

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Tree Number(s): C16.131.077.619, C16.131.831.512.400.705, C16.320.850.673, C16.614.492.400.705, C17.800.428.333.250.705, C17.800.804.512.400.705, C17.800.827.655

MeSH Unique ID: D056770

Entry Terms:

• Netherton Disease

Previous Indexing:

• Ichthyosiform Erythroderma, Congenital (1992-2009)

See Also:

• Serine Peptidase Inhibitor Kazal-Type 5

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Netherton Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Skin Abnormalities
Ichthyosis
Ichthyosiform Erythroderma, Congenital
Netherton Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Netherton Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Infant, Newborn, Diseases
Ichthyosis
Ichthyosiform Erythroderma, Congenital
Netherton Syndrome

All MeSH Categories
Diseases Category
Skin and Connective Tissue Diseases
Skin Diseases
Keratosis
Ichthyosis
Ichthyosiform Erythroderma, Congenital
Netherton Syndrome

All MeSH Categories
Diseases Category
Skin and Connective Tissue Diseases
Skin Diseases
Skin Abnormalities
Ichthyosis
Ichthyosiform Erythroderma, Congenital
Netherton Syndrome

All MeSH Categories
Diseases Category
Skin and Connective Tissue Diseases
Skin Diseases
Skin Diseases, Genetic
Netherton Syndrome