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Incontinentia pigmenti — a case report
Affiliations- Studenckie Koło Naukowe przy Klinice Dermatologii, Dermatologii Dziecięcej i Onkologicznej Uniwersytetu Medycznego w Łodzi, ul. Kniaziewicza 1/5, 91-347 Łódź, Poland
- Klinika Dermatologii, Dermatologii Dziecięcej i Onkologicznej Uniwersytetu Medycznego w Łodzi
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Abstract
Incontinentia pigmenti is a rare genodermatosis, caused by mutations of the NEMO gene, located at X chromosome. It is usually lethal for males, resulting in the observation that most patients are females. Cutaneous manifestations are the most characteristic signs, often occuring in the neonate period and are subdivided into 4 stages. Additionaly, other defects may be associated with the disease including abnormalities of: teeth, eyes, central nervous system, bones. We report the case of a 4-month-old female, presenting skin manifestations of IP just after birth.
Abstract
Incontinentia pigmenti is a rare genodermatosis, caused by mutations of the NEMO gene, located at X chromosome. It is usually lethal for males, resulting in the observation that most patients are females. Cutaneous manifestations are the most characteristic signs, often occuring in the neonate period and are subdivided into 4 stages. Additionaly, other defects may be associated with the disease including abnormalities of: teeth, eyes, central nervous system, bones. We report the case of a 4-month-old female, presenting skin manifestations of IP just after birth.
Keywords
incontinentia pigmenti; clinical presentation; infant
About this articleTitle
Incontinentia pigmenti — a case report
Journal
Issue
Article type
Case report
Pages
63-67
Published online
2017-08-21
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948
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14277
Bibliographic record
Forum Dermatologicum 2017;3(2):63-67.
Keywords
incontinentia pigmenti
clinical presentation
infant
Authors
Magdalena Sadowska
Zofia Gerlicz-Kowalczuk
Magdalena Oszukowska
Joanna Narbutt
Aleksandra Lesiak
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