harlequin ichthyosis (new)

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  • Harlequin IchthyosisJesus Diaz&Andrea Lpez

  • Introduction Most severe form of Congenital Ichthyosis.Affects mainly skin. Condition manifests while child is still in the uterus.Characterized by a profound thickening of the keratin layer in fetal skin.

  • SymptomsThick armor-like plaques that cover the bodyDiamond-shaped plaques give the infant the appearance of a harlequin clown.Born pre-matureAbnormalities in: - Kidneys - Lungs - Appendages - Mouth - Eyes - Ears

  • CausesMutations in the ABCA12 gene.Parents do not exhibit signs or symptoms of the condition.

  • TreatmentsBathe frequently, sponge baths. Various skin lotions and moisturizers should be applied.Creams and ointments containing the drug Etretinate.Medication for pain management.

  • StatisticsListed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).Affects less than 200,000 people in the US.Only 400 reported cases in the last 50 years.

  • DemographicsIncidence figure: One in every 200,000 people.No distinct pattern as to the racial, or gender-related preference.Although there is a chance of survival, the odds still arent good.

  • Nusrit "Nelly" ShaheenOldest person with Harlequin Ichthyosis