Harlequin Ichthyosis

By: Jesus Diaz

and

Andrea López

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