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- W3210828565 abstract "First, an 18-day-old male patient presented with erythema followed by vesicles and crusts on the right leg posterior aspect along the Blaschko’s line from birth. His pastmedical and familial history was nonspecific. Second, a 1-month-old male patient presented with linearly distributed vesicles and scales on the left leg along the Blaschko’s line from birth. Histological findings showed superficial perivascular lymphocyte and eosinophil infiltration with dyskeratotic cells. No mutation in the inhibitor of nuclear factor kappa B kinase subunit gamma (IKBKG) gene was observed in the leukocyte in peripheral blood samples of both cases. The ophthalmologic and neurologic examination failed to reveal any abnormal finding. Based on the clinical and histopathologic manifestation, they were diagnosed as having incontinentia pigmenti (IP). IP is a chromosome X-linked dominant genetic disorder. The mutated gene in IP patients is located in Xq28 and encodes a protein, IKBKG. It is characterized by typical 4 staged cutaneous findings: vesicular, verrucous, hyperpigmented, and atrophic. Abnormalities of ectodermal and mesodermal organ could be associated. Although it is mostly considered to be fatal in utero in male, postzygotic mutation or somatic mosaicism has been suggested as a pathogenesis of IP in males born alive." @default.
- W3210828565 created "2021-11-08" @default.
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- W3210828565 date "2017-01-01" @default.
- W3210828565 modified "2023-09-26" @default.
- W3210828565 title "[P229] Incontinentia pigmenti in male: two cases report" @default.
- W3210828565 hasPublicationYear "2017" @default.
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