Harlequin Ichthyosis

By: Jesus Diaz

and
Andrea Lpez
Introduction
Severe genetic disorder that affects mainly
skin
Chronic, congenital dermatological
condition that manifests while a child is still
in the utero
Skin forms large, diamond-shaped plates
that are separated by deep cracks
(fissures)
Condition is inherited in an autosomal
recessive condition each carry a copy of
the mutated gene
Symptoms
Lieu of skin child has, thick armor-like
plaques that cover the body
Diamond-shaped presentation of the
plaques gives the infant the appearance of
a harlequin clown
Born pre-mature
May grow to be short
Abnormalities in kidneys and lungs
Causes
Mutations in the ABCA12 gene cause
harlequin ichthyosis (Parents do not
exhibit signs or symptoms of the condition)
Treatments
Bathe frequently, sponge baths
various skin lotions and moisturizers
should be applied
Creams and ointments containing the drug
etretinate
Medication for pain management

Statistics

Demographics
Harlequin fetus is a very rare form of
congenital ichthyosis
Incidence figure: One in every 200,000
people