Abstract | INTRODUCTION: MATERIALS AND METHODS: Genetic background of eight patients from three families diagnosed clinically with SLS was determined with whole-exome and Sanger sequencing. Clinical phenotypes, laboratory findings, magnetic resonance imaging (MRI), and treatment of the ichthyosis with acitretin were assessed. RESULTS: All patients had the classical triad of Sjögren-Larsson syndrome. Genetic analysis revealed that one patient had a novel c.799-1 (+/+) homozygous splicing mutation in the ALDH3A2 gene. Other patients had the c.683G>A p.R228H (NM_000382.2) mutation in the same gene. Other manifestations included skeletal anomalies, enamel hypoplasia, bilateral T2-hyperintensities in white matter, and moderate-severe pruritus. Acitretin treatment in a maintenance dose of 0.25 mg/kg/day decreased the severity of ichthyosis in all children. It increased quality of life significantly in all of the children and their caregivers. CONCLUSION:
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Authors | Seçil Vural, Atay Vural, Fulya Akçimen, Işın S Bağci, Ceren Tunca, Asli Gündoğdu Eken, Thomas Ruzicka, A Nazli Başak |
Journal | International journal of dermatology
(Int J Dermatol)
Vol. 57
Issue 7
Pg. 843-848
(Jul 2018)
ISSN: 1365-4632 [Electronic] England |
PMID | 29704247
(Publication Type: Journal Article)
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Copyright | © 2018 The International Society of Dermatology. |
Chemical References |
- Keratolytic Agents
- Aldehyde Oxidoreductases
- long-chain-aldehyde dehydrogenase
- Acitretin
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Topics |
- Acitretin
(therapeutic use)
- Adolescent
- Aldehyde Oxidoreductases
(genetics)
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exome
- Female
- Humans
- Ichthyosis, Lamellar
(drug therapy, genetics)
- Keratolytic Agents
(therapeutic use)
- Magnetic Resonance Imaging
- Male
- Musculoskeletal Abnormalities
(genetics)
- Neuroimaging
- Paraparesis, Spastic
(genetics)
- Pedigree
- Quality of Life
- Sjogren-Larsson Syndrome
(diagnostic imaging, drug therapy, genetics)
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