Xeroderma pigmentosum
ICD-10 Q82.1 is a billable code used to indicate a diagnosis of xeroderma pigmentosum.
Xeroderma pigmentosum (XP) is a rare, inherited disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight, leading to a significantly increased risk of skin cancer. It is caused by a defect in the DNA repair mechanisms, specifically in the nucleotide excision repair pathway, which is responsible for repairing UV-induced DNA damage. Patients with XP often present with symptoms such as freckling, skin atrophy, and the development of skin malignancies at a young age. The condition is typically diagnosed in childhood, with clinical features becoming apparent after sun exposure. Management includes rigorous sun protection measures, regular dermatological evaluations, and, in some cases, surgical intervention for skin lesions. XP can also be associated with neurological abnormalities in some subtypes, complicating the clinical picture. Genetic counseling is crucial for affected families, as XP follows an autosomal recessive inheritance pattern, necessitating awareness of carrier status and risks for future offspring.
Pediatric documentation must include growth and developmental assessments, sun exposure history, and skin examination findings.
Pediatric patients presenting with skin lesions after sun exposure, requiring referral to dermatology.
Consideration of family history and genetic testing results is essential for accurate coding.
Genetic documentation should include family pedigree, genetic testing results, and counseling notes.
Patients undergoing genetic testing for XP and counseling regarding inheritance patterns.
Accurate coding requires understanding of the genetic basis and implications for family members.
Used for routine follow-up visits for patients with XP.
Document history of present illness, review of systems, and physical exam findings.
Pediatricians should emphasize growth and development in documentation.
Common complications include a high risk of skin cancers, particularly basal cell carcinoma and squamous cell carcinoma, as well as potential neurological issues in certain subtypes. Regular dermatological evaluations and sun protection are critical for management.
