Harlequin Ichthyosis in a Filipino Newborn: Management Pearls in a Resource-limited Setting
Introduction. Harlequin ichthyosis (HI) is a rare type of autosomal recessive congenital ichthyosis. There are approximately 200 documented cases worldwide, with less than five published reports in the Philippines. Despite its rarity, current literature suggests a better prognosis for these patients.
Case description. We describe a preterm male newborn who presented at birth enclosed in a thick hyperkeratotic armor-like scale plates with areas of fissures, with associated ectropion, conjunctiva dehiscence, and eclabium. The thickened encasement also covered the hands and feet, causing severe contractures. A diagnosis of harlequin ichthyosis was given based on the clinical features. The patient was managed through a multidisciplinary approach, including referral to the tele-ichthyosis platform of a US-based foundation for patients with ichthyosis. Thermoregulation, nutrition, and hydration were carefully managed. Bland emollients were applied generously following normal saline soaks to improve barrier protection. Acitretin was administered on day 2 of life to facilitate the desquamation of the thickened encasement. A marked decrease in erythema and the thickness of the hyperkeratotic skin, and reduced conjunctival dehiscence were noted after one week of therapy. However, the constrictions on the hands and feet showed bluish discoloration and signs of necrosis. Linear band excision was performed to release the constrictors. Despite aggressive management, the patient succumbed to sepsis on day 12 of life.
Conclusion. Improved prognosis amongst HI patients is correlated with optimal quality of care regardless of resource limitations. A multidisciplinary approach and early administration of retinoids cannot be overemphasized. Linear band excision within the first week of life is suggested for constrictions on the extremities that do not improve with retinoids to avoid necrosis and autoamputation.