Ichthyosis and ARSA deficiency: An unusual clinical presentation

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Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi
Cilt: 12 Sayı: 1
Ichthyosis and ARSA deficiency: An unusual clinical presentation

Ichthyosis and ARSA deficiency: An unusual clinical presentation

Authors : Senem Ayça, Pelin Özyavuz Çubuk, Duygu Güneş Gül, Muzaffer Polat

Pages : 203-206

Doi:10.34087/cbusbed.1356022

View : 19 | Download : 18

Publication Date : 2025-03-26

Article Type : Other Papers

Abstract :Metachromatic leukodystrophy (MLD) is a rare childhood disease arises by arylsulfatase A (ARSA) deficiency. Storage of sulfatides causes dysmyelination in the central nervous system resulting clinically neurodegenerative process. Ichthyosis can be seen in multiple sulfatase deficiency (MSD) and steroid sulfatase deficiency but ichthyosis with arylsulfatase deficiency is not defined before. Herein we present an individual diagnosed late infantile metachromatic leukodystrophy with ichthyosis and ARSA gene analysis revealed homozygote mutation (c.619G>C). To our knowledge ichthysosis with ARSA deficiency was not reported previously.
Keywords : Metakromatik lökodistrofi, ARSA, iktiyozis

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