Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

Hadj‐Rabia, Smail; Rimella, Aude; Smahi, Asma; Fraïtag, Sylvie; Hamel‐Teillac, Dominique; Bonnefont, Jean‐Paul; Prost, Y. De; Bodemer, Christine

doi:10.1016/j.jaad.2010.01.045

Cited by 54 publications

(61 citation statements)

References 28 publications

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“…Landy and Donnai [3] registered a high percentage of CNS anomalies (<10%) in their unpublished series of 111 IP patients, but omitted CNS anomalies as IP minor criteria. Histological features of affected skin and nipple anomalies as well as oral anomalies, especially palate anomalies, were also omitted so far as minor criteria [43,47]. To establish the possibility to include CNS anomalies as IP minor criteria, percentages of severe CNS anomalies and retinal anomalies in IP were compared.…”

Section: Discussionmentioning

confidence: 99%

Systematic review of central nervous system anomalies in incontinentia pigmenti

Minić

Trpinac

Obradović

2013

Orphanet J Rare Dis

106

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The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993–2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males. The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4–10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.

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Section: Discussionmentioning

confidence: 99%

Systematic review of central nervous system anomalies in incontinentia pigmenti

Minić

Trpinac

Obradović

2013

Orphanet J Rare Dis

106

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“…They could therefore be very helpful for late diagnosis of IP in adult women. Finally we have demonstrated that Stage 4, characterized by linear, often subtle, hypopigmentation, was probably constant in IP adults (Hadj-Rabia et al, 2011). It is sometimes the only manifestation of a misdiagnosed IP during this period of life and it is important to stress that their histological features are very helpful for IP diagnosis.…”

Section: Skinmentioning

confidence: 79%

Incontinentia pigmenti and hypomelanosis of Ito

Bodemer

2013

Handbook of Clinical Neurology

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“…8 Recurrence of stage 1 lesions has been well documented as a sporadic occurrence, 7,9 often following illness (viral infection, etc. Skin lesions typically demonstrate an absence of pilosebaceous units and patients may note absence of hair growth or sweating in the affected area.…”

Section: Neurocutaneous Disordersmentioning

confidence: 99%