- Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by photosensitivity with easy skin burning following minimal sun exposure, pigmentary changes, premature skin aging and predisposition to malignant tumor development. These features result from a defect in DNA repair mechanisms after exposure to ultraviolet (UV) radiation. In addition to cutaneous complications, patients are prone to suffer from eye conditions, neurodegenerative processes and central nervous system tumors. Less than 40% of patients survive beyond age 20 years.
- The Igenomix Xeroderma Pigmentosum Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of persistent sunburns 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 Xeroderma Pigmentosum Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Persistent sunburn
- Diffuse erythema
- Scaling of the skin
- Freckle-like areas of increased pigmentation
- A decreased appearance of sunburns, scaling and freckles during winter
- Skin atrophy
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. Patient education on preventive sun exposure measures.
- Early initiation of protection from sunlight in form of sunscreen and sun-avoidance methods. Surveillance for early detection of neoplasms and ophthalmology consultations.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Black J. O. (2016). Xeroderma Pigmentosum. Head and neck pathology, 10(2), 139–144. https://doi.org/10.1007/s12105-016-0707-8
Dupuy, A., & Sarasin, A. (2015). DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease. Mutation research, 776, 2–8. https://doi.org/10.1016/j.mrfmmm.2014.08.007
DiGiovanna, J., & Kraemer, K. (2012). Shining a Light on Xeroderma Pigmentosum. Journal Of Investigative Dermatology, 132(3), 785-796. doi: 10.1038/jid.2011.426
Gratchev, A., Strein, P., Utikal, J., & Goerdt, S. (2003). Molecular genetics of Xeroderma pigmentosum variant. Experimental Dermatology, 12(5), 529-536. doi: 10.1034/j.1600-0625.2003.00124.x
Lehmann, A. R., McGibbon, D., & Stefanini, M. (2011). Xeroderma pigmentosum. Orphanet journal of rare diseases, 6, 70. https://doi.org/10.1186/1750-1172-6-70
Moriwaki, S., Kanda, F., Hayashi, M., Yamashita, D., Sakai, Y., Nishigori, C., & Xeroderma pigmentosum clinical practice guidelines revision committee (2017). Xeroderma pigmentosum clinical practice guidelines. The Journal of dermatology, 44(10), 1087–1096. https://doi.org/10.1111/1346-8138.13907