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Harlequin ichtyosis (HI) is a congenital skin disorder first described by Reverend Oliver Hart in 1750 (Kessel & Frielander; 1955). The incidence of this rare disorder is 1 in 300,000 (Bianca, Ingegnosi, & Bonaffini; 2003). This defect of lipid transport is manifested in a hyperkeratotic epidermis, resulting in restriction of movement, deep fissures in the skin, and inelasticity. Characteristically, the mouth is fixed in the shape of an 'O' and the infant is unable to adequately suck and severe ectropion may be present (Mukhopadhyay & Ramesh; 2006). There may be impaired circulation due to hyperkeratotic bands. Diagnosis may be made based on appearance at birth as the name harlequin is derived from the 'diamond-like patches' apparent on the skin. Most infants die in the neonatal period due to infection, and metabolic issues. Management for HI includes supportive care, emolliation of the skin, prevention of infection, hydration, and electrolyte replacement. In recent years, some patients have survived into adolescence and adulthood.

When a premature newborn, with HI was transferred to our regional center, a family centered plan of care was set in motion, that evolved from palliative therapy to disease management and support. Our baby girl had a sibling, who died at 48 hours of life, one year prior, at our nearby children's hospital but the family was lost of follow up. No testing had been done during the second pregnancy, so the diagnosis was made at birth, and a decision was made to offer palliative care. At 24 hours of life, the baby's family expressed that they believed the baby was "stronger" than the baby who expired the previous year and "wanted to live". At that time, the baby was transferred to our hospital, a family centered plan of care developed and consults were requested from social services, nutrition, genetics, dermatology, ophthamology, ENT, and speech therapy. Networking with a world renown specialist for ichthyosis provided additional support.

In 2005, adenosine triphosphate-binding cassette A12 (ABCA12) was found to be the defective gene associated with HI (Akiyama, 2006) making it possible for diagnosis by chorionic villus or amniotic fluid sampling. This provides opportunities to assist families with decision making and preparation for the birth of a child with a high probability for mortality and morbidity. Nine months since her birth, our baby girl is a growing developing child, who receives ongoing care at our neighboring children's hospital. Although the patient's family is migrant, the mother is staying in our area, year round so that she may access the care her baby needs. Our team has learned valuable lessons about the importance of a dynamic family centered plan of care that meets the changing needs of the patient.

Future possibilities include DNA testing from maternal circulation and even preimplantation diagnostic testing. Research has begun to develop corrective gene therapy for patients with HI (Akiyama; 2006).