Work

Ichthyosis and ARSA deficiency: An unusual clinical presentation

Year: 2025

Type: article

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.

Source: Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

DOI: 10.34087/cbusbed.1356022

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

Institutions: Manisa Celal Bayar University, Sağlık Bilimleri Üniversitesi

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4408868994

FWCI:

Cites: 6

Cited by:

Related to: 10