Harlequin ichthyosis

Document Type

Conference Proceeding

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Publication Title

J Am Acad Dermatol


Harlequin ichthyosis is a rare, severe formof ichthyosis, which presents at birth. The neonate is encased in an ''armor'' of thick scaly plates separated by deep fissures. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation, leading to a worldwide mortality close to 50%. We describe a case of a 35-week-old Lebanese female, born to a 26-year-old G1P1 mother via vaginal delivery. She presented at birth encased in thick, shiny, scaly plates separated by deep, erythematous fissures. The presence of ectropion (eversion of eyelids) placed the conjunctivae and cornea at risk for trauma and desiccation. Eclabium (outward eversion of lips) was noted, and the mouth was fixed open, making it difficult to feed orally. Her nose and ears were flattened. Her limbs were encased in thick hyperkeratotic skin, resulting in flexion contractures of the arms, legs, and digits. Her parents denied consanguinity and family history of ichthyotic disorders. Antenatal ultrasound at 30 weeks' gestation showed ectropion, eclabium, and flexion contractures at the wrists and elbows. Amniocentesis performed at 30 weeks' gestation and genetic testing showed homozygous mutation in ABCA12 gene for sequence variant defined as c.3882G > A. Immediately after birth, the patient was taken to the NICU for hydration with IV fluids through an umbilical catheter, feeding, and multidisciplinary management. Treatment was largely supportive, with frequent emollient use and dilute bleach baths. The patient began to spontaneously shed her thick, keratotic crust during the first month of life and is progressing to a phenotype resembling congenital ichthyosiform erythroderma. Because oral retinoids in treatment of harlequin ichthyosis in the NICU is highly controversial, they were not initiated in our patient. Treatments in the NICU and after discharge were mostly conservative with frequent emollient use, bleach, baths, and IV hydration. Our patient survived and completely shed her ''armor'' without the use of retinoids. She continues to develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma.





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