Clinical Study of 40 Cases of Incontinentia Pigmenti

Hadj‐Rabia, Smail; Froidevaux, David; Bodak, Nathalie; Hamel‐Teillac, Dominique; Smahi, Asma; Touil, Yasmina; Fraïtag, Sylvie; Prost, Y. De; Bodemer, Christine

doi:10.1001/archderm.139.9.1163

Cited by 170 publications

(215 citation statements)

References 52 publications

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“…The third stage is marked by the appearance of a skin area displaying hyperpigmentation that at the fourth stage becomes patches of atrophic hypopigmented skin. Besides the constant skin phenotype, several publications have reported on the extreme heterogeneity of both intra-and interfamilial IP disease presentation [Hadj-Rabia et al, 2003;Fusco et al, 2004]. The identification of the genetic defects of IP and EDA-ID would allow better understanding of the physiopathology of these diseases and then eventually a detailed genotype-phenotype correlation.…”

Section: Clinical Relevancementioning

confidence: 99%

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

et al. 2008

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Communicated by Andrew O.M. WilkieMutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. The IKBKG gene, located in the Xq28 chromosomal region, encodes for the regulatory subunit of the inhibitor of kappaB (IkB) kinase (IKK) complex required for the activation of the NF-kB pathway. Therefore, the remarkably heterogeneous and often severe clinical presentation reported in IP is due to the pleiotropic role of this signaling transcription pathway. A recurrent exon 4_10 genomic rearrangement in the IKBKG gene accounts for 60 to 80% of IP-causing mutations. Besides the IKBKG rearrangement found in IP females (which is lethal in males), a total of 69 different small mutations (missense, frameshift, nonsense, and splice-site mutations) have been reported, including 13 novel ones in this work. The updated distribution of all the IP-and EDA-ID-causing mutations along the IKBKG gene highlights a secondary hotspot mutation in exon 10, which contains only 11% of the protein. Furthermore, familial inheritance analysis revealed an unexpectedly high incidence of sporadic cases (465%). The sum of the observations can aid both in determining the molecular basis of IP and EDA-ID allelic diseases, and in genetic counseling in affected families. Hum Mutat 29(5), [595][596][597][598][599][600][601][602][603][604] 2008.

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Section: Clinical Relevancementioning

confidence: 99%

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

et al. 2008

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“…In a study of 653 IP patients, 521 (79.8%) had systemic symptoms and signs 4 . Between 65% and 80% of IP patients have dental abnormalities 3 , such as anodontia, hypodontia, delayed dentition, impaction, pegged teeth, conical crown formation, and accessory cusps 3,4,11,12 . In addition, 35% to 40% of IP patients have ocular abnormalities 3 , most commonly strabismus, but also including cataracts, keratitis, and optic nerve atrophy 3,4,11,12 .…”

Section: Discussionmentioning

confidence: 99%

“…Between 65% and 80% of IP patients have dental abnormalities 3 , such as anodontia, hypodontia, delayed dentition, impaction, pegged teeth, conical crown formation, and accessory cusps 3,4,11,12 . In addition, 35% to 40% of IP patients have ocular abnormalities 3 , most commonly strabismus, but also including cataracts, keratitis, and optic nerve atrophy 3,4,11,12 . Avascularity in the peripheral temporal retina, retinal detachment, and preretinal fibrovascular proliferation with vitreous hemorrhage have also been observed, all of which may lead to blindness 3,4,11,12 .…”

Section: Discussionmentioning

confidence: 99%

“…In addition, 35% to 40% of IP patients have ocular abnormalities 3 , most commonly strabismus, but also including cataracts, keratitis, and optic nerve atrophy 3,4,11,12 . Avascularity in the peripheral temporal retina, retinal detachment, and preretinal fibrovascular proliferation with vitreous hemorrhage have also been observed, all of which may lead to blindness 3,4,11,12 .…”

Section: Discussionmentioning

confidence: 99%

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A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

et al. 2009

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“…Помимо кожных проявлений, у пациентов с недержанием пигмента могут быть нарушения нерв-ной системы в виде задержки психомоторного раз-вития, эпилептиформных припадков, гидроцефа-лии; патология глаз вплоть до атрофии зрительного нерва и слепоты, аномалии скелета, дистрофии зу-бов, волос, ногтей [1,[8][9][10].…”

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Incontinentia pigmenti (Bloch—Sulzberger syndrome)

Сердюкова¹,

Родин²,

Serdjukova³

et al. 2016

Klin. dermatol. venerol.

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ГбоУ ВПо «Волгоградский государственный медицинский университет», Волгоград, Россия, 400120 описан системный генодерматоз (синдром блоха-Сульцбергера), характеризующийся своеобразными стадийными изменениями кожи, сочетающимися с поражением волос, ногтей, зубов, центральной нервной и костно-мышечной систем. Приведено собственное клиническое наблюдение за пациенткой в возрасте 4 мес.Ключевые слова: недержание пигмента, синдром Блоха-Сульцбергера, генодерматоз, врожденные аномалии, нарушения пигментации кожи. Incontinentia pigmenti (Bloch-Sulzberger syndrome)E.a. SERDjUKoVa, i.n. iVanoVa, V.i. RUSinoV, a.yU. RoDin Volgograd State medical University, Volgograd, Russia, 400120The article describes systemic genodermatosis (bloch-Sulzberger syndrome) characterized by specific phasic changes in the skin in combination with lesions of hair, nails, teeth, central nervous and musculoskeletal systems. We report our own clinical observation of 4-month-old female patient.

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Clinical Study of 40 Cases of Incontinentia Pigmenti

Cited by 170 publications

References 52 publications

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

Incontinentia pigmenti (Bloch—Sulzberger syndrome)

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