Incontinentia pigmenti
ICD-10 Q82.3 is a billable code used to indicate a diagnosis of incontinentia pigmenti.
Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder primarily affecting females, characterized by a triad of skin, dental, and ocular manifestations. The condition is caused by mutations in the IKBKG gene, which plays a crucial role in the NF-kB signaling pathway. Clinically, IP presents in four stages: the first stage involves blistering rashes that appear at birth or shortly thereafter; the second stage features wart-like lesions; the third stage shows hyperpigmented skin lesions; and the final stage may lead to atrophy and scarring. Patients may also experience dental anomalies, such as missing teeth or conical teeth, and ocular issues, including retinal detachment. The condition is associated with a risk of neurological complications and other congenital malformations, making early diagnosis and multidisciplinary management essential for optimal outcomes.
Detailed pediatric history, including birth history and developmental milestones, is essential. Documentation should include descriptions of skin lesions and any associated symptoms.
A pediatric patient presents with blistering skin lesions and a family history of similar conditions. Evaluation for associated anomalies is performed.
Pediatric coders must be aware of the potential for developmental delays and other congenital anomalies associated with IP.
Genetic testing results, family pedigree, and counseling notes must be documented to support the diagnosis and coding.
A geneticist evaluates a patient with suspected IP and orders genetic testing to confirm the diagnosis.
Genetic coders should ensure accurate coding of genetic tests and understand the implications of X-linked inheritance.
Used for confirming the diagnosis of incontinentia pigmenti in patients with clinical features.
Documentation of clinical findings and family history is required to support the necessity of genetic testing.
Geneticists must ensure that the testing aligns with the clinical presentation and family history.
Common manifestations include blistering skin lesions, dental anomalies, and ocular issues such as retinal detachment. The condition progresses through distinct stages, each with unique clinical features.
