trichothiodystrophy syndromes

Summary

Summary: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

Top Publications

  1. Hoeijmakers J. DNA damage, aging, and cancer. N Engl J Med. 2009;361:1475-85 pubmed publisher
  2. Baar M, Brandt R, Putavet D, Klein J, Derks K, Bourgeois B, et al. Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging. Cell. 2017;169:132-147.e16 pubmed publisher
    ..Thus, therapeutic targeting of senescent cells is feasible under conditions where loss of health has already occurred, and in doing so tissue homeostasis can effectively be restored. ..
  3. Phillips T, Slomiany W, Allison R. Hair Loss: Common Causes and Treatment. Am Fam Physician. 2017;96:371-378 pubmed
    ..Physician support is especially important for patients in this situation. ..