ArticleJournal of pediatric neurosciences
Neuro-ichthyotic Syndromes: A Case Series.
Article in Journal of pediatric neurosciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion.Clinical case reports · 2026Article
- IDEDNIK syndrome: a newly recognized rare genetic disorder caused byFrontiers in neurology · 2025Review
- Article
- Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.Frontiers in genetics · 2022Article
- Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.BMC medical genomics · 2021Article
- Two Italian Patients withGenes · 2021Article
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. MATERIALS AND
methodsWe retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases.
resultsEight female and seven male patients (age range 11 months-52 years) were investigated. There were eight patients with Sjögren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome. Parental consanguinity was found in all the patients except one. All patients had ichthyosis. Diagnosis was performed with genetic study.
conclusionsBecause biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis.
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