LAMELLAR İKTİYOZİSLİ YENİDOĞANDA ORAL RETİNOİD TEDAVİSİ

Abstract

İktiyozis, deriyi tutan hiperkeratoz ile karakterize heterojen bir grup konifikasyon bozukluğudur. İktiyozisin bir formu olan lamellar iktiyozis (LI), 1/300.000 insidans ile otozomal resesif kalıtılır. Tanı klinik bulgulara, deri biyopsisine ve genetik analize dayanır. Tedavi, cildin nemlendirilmesini, sıvı kaybının azaltılmasını ve keratolitikleri içerir. Oral retinoidler LI tedavisinde çok başarılı bulunmuştur. Bu olguda, nadir görülmesi ve oral retinoid tedavisine iyi yanıt vermesi nedeniyle LI tanısı konulan bir prematüre yenidoğan sunulmuştur.

Keywords

• : İktiyozis
• Lamellar İktiyozis
• Oral retinoidler

ORAL RETINOID TREATMENT IN A NEWBORN WITH LAMELLAR ICHTHYOSIS

Abstract

Ichthyosis is a heterogeneous group of conification disorders characterized by hyperkeratosis involving the skin. One form of ichthyosis, lamellar ichthyosis (LI), is autosomal recessively inherited with an incidence of 1/300,000. The diagnosis is based on clinical findings, skin biopsy and genetic analysis. Treatment includes moisturizing the skin, reducing fluid loss and keratolytics. Oral retinoids have been found to be very successful in the treatment of LI(1). In this case, a premature newborn diagnosed with LI is presented because of its rarity and good response to oral retinoid treatment.

Keywords

• Ichthyosis
• Lamellar Ichthyosis
• Oral retinoids

Supporting Institution

yok

References

1. 1. Fischer J, Bourrat E. Genetics of Inherited Ichthyoses and Related Diseases. Acta Derm Venereol. 2020 ; 100(7):186-196.
2. 2. Morelli JG. Disorders of keratinization. in: Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds). Nelson Textbook of Pediatrics. 18th edPhiladelphia: WB Sounders Company; 2007.p.2708-2714.
3. 3 . Tekin M, Konca Ç, Kahramaner Z, ErdemirA. Harlequin iktiyozis: Aynı ailede üçüncü olgu. Türk Ped Arş 2014; 49: 269-71.
4. 4. Soyuer U, Kurtoğlu S, Aktaş E, Hasanoğlu E. Hypernatremia in two collodion babies. Turk J Pediatr 1989; 31: 173-5.
5. 5. Shibata, A. & Akiyama, M. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan. Pediatr. Int. 2015;57, 516–22.
6. 6. Lilly E, Bunick CG. Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives. Clin Cosmet Investig Dermatol. 2023 ;11;16:2473-79.