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Skin Fragility-Woolly Hair Syndrome

mutation in desmoplakin

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Genetic Skin Diseases: 47
    - Skin Fragility-Woolly Hair Syndrome: 3
  - Hair Diseases: 36
    - Skin Fragility-Woolly Hair Syndrome: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Skin Fragility-Woolly Hair Syndrome: 3

Experts

1.	Peter, Dincy C V: 1 article (01/2018)
2.	Smith, Frances J D: 1 article (01/2018)
3.	Thomas, Meera: 1 article (01/2018)
4.	Wilson, Neil J: 1 article (01/2018)
5.	Al-Fatani, A: 1 article (07/2011)
6.	Al-Hindi, H: 1 article (07/2011)
7.	Al-Owain, M: 1 article (07/2011)
8.	Awaji, A: 1 article (07/2011)
9.	Baz, B: 1 article (07/2011)
10.	Haider, M: 1 article (07/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Skin Fragility-Woolly Hair Syndrome:

1.

Desmoplakins (Desmoplakin)IBA

01/01/2018 - "Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India."
07/01/2011 - "Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). "
07/01/2011 - "Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes."
02/01/2002 - "Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome."