Iktiosis Harlequin merupakan kelainan iktiosis berat dan seringkali fatal. Kasus ini sangat jarang dan kedua dilaporkan di Manado sejak 1994. Pasien umumnya lahir prematur dengan berbagai komplikasinya.Dilaporkan satu kasus bayi perempuan, usia 3 hari, lahir aterm, dengan kulit kering dan pecah-pecah di seluruh tubuh sejak 2 hari. Saat lahir, kulit seperti terbungkus selaput licin, kelopak mata kemerahan, telinga, jari tangan dan kaki tidak terbentuk sempurna. Satu hari kemudian, kulit menebal, tegang, pecah-pecah, terkelupas, luka, dan kelopak mata kemerahan tertarik. Perawatan dilakukan dalam inkubator yang dilembabkan di ruang perawatan intensif neonatus. Kateter umbilikus tidak dapat dipasang akibat omfalitis. Jalur vena perifer sulit ditemukan, sehingga kontrol cairan, elektrolit dan pemberian antiobiotik untuk sepsis diberikan peroral. Terapi topikal berupa krim ambifilik, lotion humektan mengandung ceramide, dan lotion asam laktat 5% memberikan perbaikan untuk iktiosisnya. Pasien meninggal pada usia 43 hari akibat sepsis. Umumnya pasien meninggal pada hari ke-2 perinatal akibat sepsis dan gangguan respirasi. Kemajuan bermakna terjadi pada beberapa tahun terakhir melalui perawatan intensif. Terapi retinoid sistemik dini diberikan pada beberapa kasus, namun pada kasus ini tidak tersedia. Terapi topikal bertujuan hidrasi, lubrikasi, dan keratolisis. Prognosis kasus diharapkan lebih baik karena lahir aterm, namun kesulitan akses vena menyebabkan penatalaksanaan tidak optimal. (MDVI 2012: 39/1;15-20)

Kata kunci : Iktiosis Harlequin, aterm

Ichthyosis Harlequin is severe ichthyosis form and often fatal. This case is rare and secondly reported in Manado since 1994. Patients were often born prematurely. A female baby, 3 days old, aterm, suffered from crackling dry skin. At birth, the skin looked like membrane wrapped slippery. Eyelids were closed and red. Ears, fingers, and feet were not fully formed. Later, the skin thickened, taut, peeling rupture, formed slit wounds, and red eyelids were severely everted. Management was performed in neonatal intensive care. Difficulties of umbilical catheter placement due to omphalitis and peripheral venous access resulted fluid, electrolyte control, and antibiotic for sepsis were given orally. Topical therapies including ambiphilic cream, humectants lotion containing ceramide, and 5% lactic acid lotion yielded improvement. The patient died at the age of 43 days due to sepsis. Most patients died 2 days perinatal because of sepsis and respiratory disorder. Significant progress occurred in recent with intensive care. Early systemic retinoid therapy was given in those cases, but unavailable in this case. Topical therapies focus on hydration, lubrication, and keratolysis. The prognosis was expected to be better because of aterm birth, but the venous access difficulty caused unoptimazed management. (MDVI 2012: 39/1;15-20)



Keyword : Ichthyosis Harlequin, aterm