Diagnostic criteria and treatment progress of incontinentia pigmenti / 中国医师杂志
Journal of Chinese Physician
;
(12): 1274-1278, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-909695
ABSTRACT
Incontinentia pigmenti (IP) is an X-linked dominant disease affecting the skin, teeth, eyes and central nervous system caused by mutations in the IKBKG gene. 95% of patients are female. Skin rash is the prominent manifestation and main diagnostic basis of IP, while external skin damagesare often the factors affecting the prognosis of IP. The diagnostic criteria for IP have been updated in recent years, and Sanger sequencing remains the gold standard for the detection and analysis of IKBKG mutations. IP patients should be fully evaluated, and active treatment should be given if eye retinopathy and nervous system damage are found.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
/
Prognostic study
Language:
Chinese
Journal:
Journal of Chinese Physician
Year:
2021
Type:
Article
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