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Diseases » X-linked ichthyosis » Glossary
 

Glossary for X-linked ichthyosis

  • Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
  • Cryptorchidism: Misplaced testes hidden in the abdomen at birth
  • Dry skin: Dryness of the skin.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Ichthyosis vulgaris, sex-linked, recessive: A genetic skin condition caused by a deficiency of steroid sulfatase and characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The condition only occurs in males.
  • Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
  • Pruritus: The sensation of itch
  • Scaly skin: Toughness or scaliness of the skin
  • Skin conditions: Any condition that affects the skin
  • Tough skin: Excessive toughening or scaling of skin.

 

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