Nadir bir konjenital birlikteliðe acil yaklaþým – iktiyozis ve amniyotik bant sendromu

Ýktiyozis, Mendel kornifikasyon bozukluklarýndan kaynaklanýr. Kalýtsal iktiyozlar, sendromik olmayan ve sendromik iktiyozlar olarak ikiye ayrýlýr. Amniyotik bant sendromu, en sýk el ve bacak halkalarýna neden olan doðumsal anomalileri içerir. Bantlar geliþmekte olan vücut kýsýmlarýný sarabilir. Bu çalýþmada, konjenital iktiyozis olgusuna eþlik eden amniyotik bant sendromuna acil yaklaþýmýn sunulmasý amaçlandý. Yenidoðan yoðun bakým ünitesi tarafýndan bir günlük erkek bebek vakasý için konsültasyon istendi. Fizik muayenede her iki elde doðuþtan bantlar mevcuttu, ayak parmaklarý rudimenterdi, tüm vücutta ciltte pullanma ve cilt sertliði mevcuttu. Sað testis skrotumda deðildi. Diðer sistem muayeneleri normaldi. Ancak bandýn distalindeki parmaklardaki kan dolaþýmý kritik hale gelmiþti. Sedasyon yardýmý ile parmaklardaki bantlar eksize edildi ve iþlem sonrasýnda parmaklar-daki dolaþýmýn iþlem öncesine göre daha rahat olduðu gözlemlendi. Konjenital iktiyozis ve amniyotik bant birlikteliði oldukça nadirdir. Bu hastalara acil yaklaþým, ekstremitenin kurtarýlmasý ve ekstremitede büyüme geriliðinin önlenmesi açýsýndan çok önemlidir. Prenatal tanýlar açýsýndan geliþmeler yaþandýkça erken taný ve tedavi ile bu vakalarýn önüne geçilebilecektir.

Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome

Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.