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Case Report

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

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Dermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy
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Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy
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Division of Metabolism, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, Italy
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Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
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Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
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Rare Diseases and Medical Genetics Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
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Pathology Unit, Department of Laboratories, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio, 4, 00165 Rome, Italy
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Author to whom correspondence should be addressed.
Academic Editor: Judith Fischer
Genes 2021, 12(3), 343; https://doi.org/10.3390/genes12030343
Received: 31 December 2020 / Revised: 21 February 2021 / Accepted: 25 February 2021 / Published: 26 February 2021
(This article belongs to the Special Issue Genetic Variant of Genetic Skin Diseases)
Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in ELOVL4 gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed ELOVL4 homozygous frameshift variant c.435dupT (p.Ile146TyrfsTer29), and compound heterozygous variants c.208C>T (p.Arg70Ter) and c.487T>C (p.Cys163Arg), respectively. Both patients were born with collodion membrane followed by development of diffuse mild hyperkeratosis and scaling, localized erythema, and palmoplantar keratoderma. One infant displayed mild facial dysmorphism. They suffered from failure to thrive, and severe gastro-esophageal reflux with pulmonary aspiration. The patients presented axial hypotonia, hypertonia of limbs, and absent head control with poor eye contact from infancy. Visual evoked potentials showed markedly increased latency and poor morphological definition, indicative of alteration of the retro-retinal visual pathways in both patients. Ultrastructural skin examination revealed abnormalities of lamellar bodies with altered release in the epidermal granular and horny layer intracellular spaces. Our findings contribute to expanding the phenotypic and genotypic features of ELOVL4-related neuro-ichthyosis. View Full-Text
Keywords: ELOVL4; ichthyosis; collodion baby; dysmorphism; epilepsy; developmental delay; visual evoked potentials; electron microscopy ELOVL4; ichthyosis; collodion baby; dysmorphism; epilepsy; developmental delay; visual evoked potentials; electron microscopy
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MDPI and ACS Style

Diociaiuti, A.; Martinelli, D.; Nicita, F.; Cesario, C.; Pisaneschi, E.; Macchiaiolo, M.; Rossi, S.; Condorelli, A.G.; Zambruno, G.; El Hachem, M. Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. Genes 2021, 12, 343. https://doi.org/10.3390/genes12030343

AMA Style

Diociaiuti A, Martinelli D, Nicita F, Cesario C, Pisaneschi E, Macchiaiolo M, Rossi S, Condorelli AG, Zambruno G, El Hachem M. Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. Genes. 2021; 12(3):343. https://doi.org/10.3390/genes12030343

Chicago/Turabian Style

Diociaiuti, Andrea, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo G. Condorelli, Giovanna Zambruno, and May El Hachem. 2021. "Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization" Genes 12, no. 3: 343. https://doi.org/10.3390/genes12030343

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