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: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Netherton Syndrome: 211
  - Skin Abnormalities: 159
    - Ichthyosis: 1028
      - Congenital Ichthyosiform Erythroderma: 43
        Netherton Syndrome: 211
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Netherton Syndrome: 211
- Diseases Newborn Infant: 271
  - Ichthyosis: 1028
    - Congenital Ichthyosiform Erythroderma: 43
      - Netherton Syndrome: 211
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Keratosis: 712
    - Ichthyosis: 1028
      - Congenital Ichthyosiform Erythroderma: 43
        Netherton Syndrome: 211
  - Skin Abnormalities: 159
    - Ichthyosis: 1028
      - Congenital Ichthyosiform Erythroderma: 43
        Netherton Syndrome: 211
  - Genetic Skin Diseases: 51
    - Netherton Syndrome: 211

K Jahn-Bassler Selected Research

K Jahn-Bassler Research Topics

Disease

Drug/Important Bio-Agent (IBA)