Incontinentia Pigmenti with Extensive Brain Infarction in a Newborn
نویسندگان
چکیده
منابع مشابه
Incontinentia Pigmenti in a Newborn with NEMO Mutation
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...
متن کاملIncontinentia pigmenti*
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...
متن کاملIncontinentia pigmenti: MR demonstration of brain changes.
PURPOSE To describe the MR findings in eight girls and women with incontinentia pigmenti, from two families. Four had skin lesions and neurologic disease, and four had only skin lesions. METHODS Eight patients had physical examination, family history, electroencephalogram and MR examination of the brain. MR was repeated in the two cases with more severe changes several years after the first s...
متن کامل[Incontinentia pigmenti].
Four new cases of incontinentia pigmenti are presented, including chromosome studies of one family. An increased number of chromosome breakages was found in the blood of affected as well as unaffected members of this family.
متن کاملA Case Report of Incontinentia Pigmenti in a Newborn with Positive Family History Extending Over Three Generations
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis that presents at the time of birth or soon after birth with cutaneous manifestation. This disorder may also affect the ectodermal tissues, such as the central nervous system, skeletal system, eyes, hair, nails, and teeth. The dermatological findings occur in four successi...
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ژورنال
عنوان ژورنال: Soonchunhyang Medical Science
سال: 2020
ISSN: 2233-4289,2233-4297
DOI: 10.15746/sms.20.014