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Cosa (chi) è X-linked ichthyosis - definizione
SKIN CONDITION CAUSED BY THE HEREDITARY DEFICIENCY OF THE STEROID SULFATASE (STS) ENZYME THAT AFFECTS 1 IN 2000 TO 1 IN 6000 MALES
Placental sulfatase deficiency; Ichthyosis, x-linked; Steroid sulfatase deficiency; X-linked recessive ichthyosis; Sex linked Ichthyosis
X-linked dominant inheritance
MODE OF INHERITANCE
X-linked dominance; X-linked dominant
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type.
X-linked intellectual disability
SYNDROMIC INTELLECTUAL CHARACTERIZED BY AN X-LINKED INHERITANCE PATTERN
X-Linked mental retardation; X-linked mental retardation
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
X-linked lymphoproliferative disease
LYMPHOPROLIFERATIVE DISORDER
Duncan's disease; X-linked lymphoproliferative syndrome; Purtilo syndrome; XLP (hematology)
X-linked lymphoproliferative disease (also known as Duncan disease or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients.
Wikipedia
X-linked ichthyosis
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. The term is from the Ancient Greek 'ichthys' meaning 'fish'.
