- Ichthyosis refers to an uncommon group of skin disorders characterized by excessive amounts of dry surface scales and hyperkeratosis, often associated with erythroderma. It belongs to the group of disorders of keratinization and the manifestations are due to mutations in genes mostly involved in skin barrier formation. Ichthyoses can be syndromic or non-syndromic. The ichthyosiform dermatoses can be classified according to clinical manifestations, genetic presentation and histologic findings which results in a clinical heterogeneity. There are five types of inherited ichthyosis as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma and X-linked ichthyosis.
- The Igenomix Ichthyosis Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of skin scaling ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Ichthyosis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Fine scales and varying degrees of dryness of the skin localized over the trunk, abdomen, buttocks and legs
- Conjunctiva thickening
- Keratitis, megalocornea and other corneal manifestations
- Eyelid manifestations: ectropion, blepharitis, trichiasis
- Retinal symptoms: Coloboma, tortuous vessels etc
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical care with oral retinoids, prevention of complications such as infections, eye care and surgical care if needed.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
Takeichi, T., & Akiyama, M. (2016). Inherited ichthyosis: Non-syndromic forms. The Journal of dermatology, 43(3), 242–251. https://doi.org/10.1111/1346-8138.13243
Bygum, A., Virtanen, M., Brandrup, F., Gånemo, A., Sommerlund, M., Strauss, G., & Vahlquist, A. (2013). Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings. Acta Dermato Venereologica, 93(3), 309-313. doi: 10.2340/00015555-1447
Fischer, J., & Bourrat, E. (2020). Genetics of Inherited Ichthyoses and Related Diseases. Acta dermato-venereologica, 100(7), adv00096. https://doi.org/10.2340/00015555-3432
Ahmed, H., & O’Toole, E. A. (2014). Recent advances in the genetics and management of harlequin ichthyosis. Pediatric dermatology, 31(5), 539–546. https://doi.org/10.1111/pde.12383
Yoneda K. (2016). Inherited ichthyosis: Syndromic forms. The Journal of dermatology, 43(3), 252–263. https://doi.org/10.1111/1346-8138.13284
Vega Almendra, N., & Aranibar Duran, L. (2016). Ictiosis hereditaria: desafío diagnóstico y terapéutico [Hereditary ichthyosis: A diagnostic and therapeutic challenge]. Revista chilena de pediatria, 87(3), 213–223. https://doi.org/10.1016/j.rchipe.2015.07.025
Akiyama M. (2011). Updated molecular genetics and pathogenesis of ichthiyoses. Nagoya journal of medical science, 73(3-4), 79–90