Incontinentia Pigmenti

Hsieh, David T.; Chang, Taeun

doi:10.1001/archneurol.2011.164

Cited by 4 publications

(3 citation statements)

References 55 publications

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“… 10 Changes in SWI are not as extensive as those in DWI, but there are better hints for IP patients with spotty bleeding. 9 , 10 Unlike other neurological conditions, IP neurological lesions does not develop new neurological lesions or change over time. 9 , 10 Therefore, cranial magnetic resonance examination has a certain significance for neonatal pigment incontinence.…”

Section: Discussionmentioning

confidence: 99%

“…Besides the typical skin symptoms of IP, positive head imaging has been reported in the literature. 9 30% of IP patients present with neurological involvement. 9 , 10 Based on conventional MRI in patients with IP, the dominant lesions were widespread with sometimes confluent punctate and patchy changes in the periventricular and subcortical white matter.…”

Section: Discussionmentioning

confidence: 99%

“… 9 30% of IP patients present with neurological involvement. 9 , 10 Based on conventional MRI in patients with IP, the dominant lesions were widespread with sometimes confluent punctate and patchy changes in the periventricular and subcortical white matter. 10 A characteristic feature of DWI abnormalities was punctate lesions spread throughout the white matter, often associated with changes to the corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

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Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result

Yuan,

Zhu,

Liu

et al. 2023

CCID

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Background Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is an X-linked dominant genetic disease involving multiple systems. Previous literature has not reported the case of parents with negative genetic test results, and typical early clinical symptoms and auxiliary inspection results were also lacking. Case Report A female child was found to have broken skin immediately after birth with no family inheritance disease, and the area of the broken skin increased. Immediately afterward, Head magnetic resonance imaging (MRI) showed multiple blood lesions in the brain. Then, the wide-angle digital retinal imaging system suggesting that fundus fluorescein angiography showed fundus vascular loop-like changes. And blood genetic testing showed that exons 4–10 of the NEMO gene located in Xq28 were deleted. The patient was eventually diagnosed with IP. However, her parents were a non-consanguineous healthy couple, with no specific skin, oral, or perineal diseases. And her parents’ blood genetic testing showed that the parents and sisters of the patient did not have the NEMO gene exon deletion of Xq28. Conclusion This case demonstrates the process from suspected neonatal IP cases without familial inheritance to diagnosis, which showed the typical early clinical symptoms and auxiliary inspection results. This case showed that the parents of patients with IP do not necessarily have clinical symptoms and positive symptoms of genetic testing results.

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