trichothiodystrophy

{
  "id": "MLC-T-ONC-008899",
  "term": "trichothiodystrophy",
  "field": "Oncology and biomedicine",
  "definition": "A rare, inherited genetic disorder marked by short, dry hair that breaks easily and has a light- and dark-colored striped (tiger-tail) pattern when looked at under a microscope. There are many other signs and symptoms of trichothiodystrophy that begin in infancy and vary from person to person. About half of all people with trichothiodystrophy also have an extreme sensitivity to sunlight and may develop a severe blistering sunburn after a short time in the sun. Other signs and symptoms may include learning and developmental delays, shorter-than-average height, recurrent infections, dry, scaly skin, and abnormalities of the nails, eyes, and bones. Trichothiodystrophy is associated with mutations (changes) in several genes and is inherited in an autosomal recessive manner.",
  "references": [
    "NCI Dictionary of Cancer Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/trichothiodystrophy/"
}