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- W2088602848 abstract "Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that involves ectodermal tissues of multiple systems. Previous reports are few in Taiwan. To contribute toward better understanding of IP, we describe and discuss the clinical features of cases that were diagnosed in a medical center during the past 12 years.The medical records of all patients with IP between July 1995 and June 2007 were reviewed retrospectively. The demographics, physical findings, pathology reports, molecular study reports, eosinophil counts and outcome were recorded.A total of 4 patients, 3 female and 1 male neonate, who met the criteria for the diagnosis of IP were enrolled. Among these cases, 3 were not diagnosed with IP at initial presentation but were regarded to have infectious diseases. A definite family history of 3 consecutive generations was proved not only by clinical manifestations but also by molecular study in 1 patient. The patient also had retinal and vitreous body hemorrhage, which rapidly progressed to retinal detachment of the right eye in 2 months. Another patient presenting with stage III hyperpigmentation at birth had an extremely rare finding of left foot deformity. The male patient had unilateral and localized vesicular lesions over his left thigh.Diagnosis of IP is difficult in the neonatal period. Referral to experienced specialists is necessary. Multiple clinical characteristics of IP and rapid progression of ophthalmologic manifestations can be demonstrated through our study. Furthermore, 3 of the 4 cases in our study are the very first reports in Taiwan." @default.
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- W2088602848 date "2008-09-01" @default.
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- W2088602848 title "Multiple Clinical Manifestations and Diagnostic Challenges of Incontinentia Pigmenti—12 Years' Experience in 1 Medical Center" @default.
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- W2088602848 doi "https://doi.org/10.1016/s1726-4901(08)70148-5" @default.
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