期刊
FRONTIERS IN MEDICINE
卷 10, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fmed.2023.1164394
关键词
incontinentia pigmenti; ectodermal dysplasia; histopathological examination; IKBKG; NEMO mutations; female infant
We report a rare case of incontinentia pigmenti (IP) in a 4-month-old female infant with erythematous vesicular skin lesions. Genetic evaluation ruled out interference from the pseudogene IKBKGP and confirmed the diagnosis of IP. The infant's dermatologic symptoms significantly improved during a 2-year follow-up, with no recurrence or other associated symptoms in different systems.
Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by mutations in the IKBKG gene. We present a case of a 4-month-old female infant with erythematous vesicular skin lesions on the trunk and extremities. Histopathologic examination of the blisters revealed an eosinophilic infiltrate. Further investigation revealed that her mother had three unexplained miscarriages and two normal uncomplicated pregnancies, resulting in the birth of two male infants. We performed a comprehensive genetic evaluation to rule out the interference of pseudogene IKBKGP, and the infant was finally diagnosed with IP. During the subsequent 2-year follow-up, we observed a significant improvement in her dermatologic symptoms, with no evidence of recurrence, and there were no other associated symptoms in the hair, nails, oral mucosa, eyes, or central nervous system.
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