Genetic mutation in male patients with incontinentia pigmenti
نویسندگان
چکیده
منابع مشابه
First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.
INTRODUCTION Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are the only known cause of IP. The presence or other than skin changes is important in the diagnosis of atypical IP cases when skin changes are discrete. OBJECTIVE The study was designed to analyze clinical manifestation, family histories and the frequency of IKBKG gene mutation i...
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Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the line...
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Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and s...
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IKBKGMutationWith Incontinentia Pigmenti and Ring-Enhancing Encephalopathy Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linkeddominantgenodermatosis affectingskinandotherorgans, including the brain, with variable expressivity. Incontinentia pigmenti results frommutations in the inhibitor of κ-βkinase-γ gene (IKBKG),which is locatedonXq28.Deletions in this gene result in loss o...
متن کاملA Case of a Surviving Male Infant with Incontinentia Pigmenti.
Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manif...
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ژورنال
عنوان ژورنال: Journal of the Formosan Medical Association
سال: 2011
ISSN: 0929-6646
DOI: 10.1016/j.jfma.2011.09.012