Xeroderma Pigmentosum Group D C0268138
A rare inherited condition preventing DNA repair from UV exposure. Strict sun protection and cancer surveillance help prevent severe complications.
Key facts at a glance
- ICD-10
- Q82.1
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmologic Surveillance
Regular eye examinations by an ophthalmologist familiar with XP to monitor for UV-induced damage including keratitis, cataracts, and eyelid skin cancers. Early detection prevents vision loss.
Environmental UV Mitigation
Comprehensive home and school modifications including UV-blocking window treatments, indoor lighting assessment, and creation of UV-safe play and learning environments. Air quality monitoring to ensure safety.
Additional treatment options
Neurological Intervention
For XP group D patients who may develop neurological degeneration, multidisciplinary management including physical therapy, occupational therapy, and in some cases surgical intervention for associated complications.
surgicalDNA Repair Enhancement Research
Participation in clinical trials exploring gene therapy and pharmacological approaches to enhance DNA repair mechanisms. T4 endonuclease V and other novel agents under investigation.
complementaryNeurodevelopmental Support
For XP group D patients with potential neurological involvement, regular developmental assessments and educational support services. Cognitive and motor skill monitoring with early intervention services.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Xeroderma Pigmentosum Group D C0268138?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hirano Y, Tanaka K, Nakajima K, et al. Molecular Pathogenesis of Xeroderma Pigmentosum: Insights into Nucleotide Excision Repair Mechanisms. Photochem Photobiol. 2020;96(4):789-801.
Japanese Dermatological Association. Clinical Practice Guidelines for Xeroderma Pigmentosum. J Dermatol. 2021;48(9):1245-1262.
Cleaver JE, Volpp WD, McDowell ML, et al. Transcription-Repair Coupling and the XP-D Protein: Structural Domains and Disease Mechanisms. DNA Repair. 2018;71:42-54.
Kraemer KH, Patronas NJ, Tamura D, et al. Xeroderma Pigmentosum Type D: Clinical Features and Molecular Characteristics. J Invest Dermatol. 2019;139(11):2315-2327.
Medication Comparisons
Compare medications used to treat Xeroderma Pigmentosum Group D C0268138. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy