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.

Also Known As:

Netherton Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Netherton Syndrome: 201
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Netherton Syndrome: 201
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Netherton Syndrome: 201
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - Congenital Ichthyosiform Erythroderma: 42
      - Netherton Syndrome: 201
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Netherton Syndrome: 201
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Congenital Ichthyosiform Erythroderma: 42
        Netherton Syndrome: 201
  - Genetic Skin Diseases: 47
    - Netherton Syndrome: 201

Mirja Tuomiranta Selected Research

Mirja Tuomiranta Research Topics

Disease

Drug/Important Bio-Agent (IBA)