Presentation
Photophobia is often present and may be associated with prominent conjunctival injection. [ncbi.nlm.nih.gov]
Entire Body System
- Falling
With repeated sun exposure, the lids of the eyes may atrophy (degenerate) and eyelashes may fall out, leaving the eyes unprotected and contributing to vision loss. [rarediseases.org]
Skin
- Skin Disease
The risk for inheriting the disease is the same for males and females. [rarediseases.org]
Neurologic
- Areflexia
The neurological abnormalities are the result of progressive neuronal degeneration resulting in sensorineural deafness, ataxia, areflexia, microcephaly and intellectual deficiency as well as impaired eyesight. [ncbi.nlm.nih.gov]
Treatment
The role of dermabrasion and chemical peels in the treatment of patients with xeroderma pigmentosum. J Am Acad Dermatol. 1995;32:623-26. Kondoh M, et al. [rarediseases.org]
Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]
Management and treatment Although no cure is available for XP, the skin problems can be dramatically ameliorated by appropriate protection. [ncbi.nlm.nih.gov]
Prognosis
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. [igenomix.fr]
Prognosis For patients without neurological abnormalities, who are diagnosed early and carry out stringent protection measures as indicated above, the prognosis is good. [ncbi.nlm.nih.gov]
Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum. DNA Repair (Amst). 2020;Sep;93:102907. Oetjen K A, Levoska MA, Tamura D, Ito S, Douglas D, Khan SG, Calvo KR, Kraemer K H, and DiGiovanna JJ. [rarediseases.org]
Etiology
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]
Epidemiology
Epidemiology XP has been found in all continents and across all racial groups. Consistent with autosomal recessive inheritance, males and females are similarly affected. [ncbi.nlm.nih.gov]
Prevention
Standard Therapies Prevention Rigorous sun (UV) protection is necessary beginning as soon as the diagnosis is suspected to prevent continued DNA damage and disease progression. [rarediseases.org]
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. [igenomix.fr]
As the skin changes are all caused by UV light, complete protection from exposure to UV can prevent further skin changes completely. [ncbi.nlm.nih.gov]