Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Hübner, Stefanie; Schwieger‐Briel, Agnes; Technau‐Hafsi, Kristin; Dănescu, Sorina; Baican, Adrian; Theiler, Martin; Weibel, Lisa; Has, Cristina

doi:10.1111/ddg.14638

Cited by 9 publications

(6 citation statements)

References 45 publications

(80 reference statements)

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“…Abnormalities in the central nervous system occur in 25%–50% of patients with IP and are most common in the first year of life and more likely in male infants ( 7 , 8 ). Developmental cerebral microangiopathy caused by IKBKG gene variants that inactivate IKBKG and upstream transforming growth factor-β-activated kinase disruption may lead to transient cerebral ischemia or hemorrhagic stroke ( 9 – 11 ).…”

Section: Discussionmentioning

confidence: 99%

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins

Lin,

Zhang,

Zhou

2024

Front. Pediatr.

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BackgroundThis article reports a case of neonatal incontinentia pigmenti onset in only one male monozygotic twin with characteristic skin lesions after birth followed by severe cerebrovascular lesions.Case presentationA male infant, the first of monozygotic twins, was born with multiple yellow pustules all over his body, repeated new herpes at different sites during the course of the disease, aggravated by fusion, warty crusts, and hyperpigmentation; biopsy pathology suggested eosinophilic spongiform edema of the skin. Peripheral blood eosinophils were significantly elevated, and brain magnetic resonance imaging revealed diffuse multiple cystic and lamellar abnormal signal areas in the left frontal and parietal lobes. On day 30, the infant showed neurological symptoms, such as poor response and apnea, and an emergency cranial computed tomography scan revealed abnormal changes in the left cerebral hemisphere and bilateral cerebellum. After admission, he was given a potassium permanganate bath and topical mupirocin for 1 month, and the skin abnormalities improved. He was treated with mechanical ventilation and vasoactive drugs for 2 days after the cerebrovascular accident, and died the same day after the parents chose hospice care. No deletion variants or point mutations were detected in subsequent genetic tests, and chromosomal copy number variation tests revealed different degrees of chimeric duplications and deletions in different regions of chromosomes Y and 3. The parents were healthy, and his twin brother had normal growth and development with no abnormalities at multiple follow-up visits.ConclusionNeonatal incontinentia pigmenti in only one male monozygotic twin is extremely rare and the genetic diagnosis is challenging. Awareness of the combined cerebrovascular lesions needs to be enhanced, and potential prevention and treatment methods need to be explored to improve the prognosis.

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Section: Discussionmentioning

confidence: 99%

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins

Lin,

Zhang,

Zhou

2024

Front. Pediatr.

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“…There are an average of 2.2 ocular abnormalities per IP patient, of which 1.2 pose a serious risk to vision [19]. In a recent case series, one-third of patients experienced blindness as a result of IP [21 ▪ ]. It is also important to note that the neurologic abnormalities found in IP can result in cortical blindness [1].…”

Section: Nonretinal Ocular Manifestationsmentioning

confidence: 99%

Incontinentia pigmenti and the eye

Islam

Khurshid

2022

Current Opinion in Ophthalmology

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Purpose of Review:Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss.Recent Findings:There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring.Summary:Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.

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“…There is considerable heterogeneity in the clinical presentation, with no clear genotype-phenotype correlation due to lyonisation. [ 27 ] The classic cutaneous presentation occurs in four stages[ 28 ]:…”

Section: (A) Disorders Of the Eda/nfkb Pathwaymentioning

confidence: 99%

Ectodermal Dysplasia – An Overview and Update

Dev,

Malhi,

Mahajan

2024

Indian Dermatology Online Journal

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Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.

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Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

Cited by 9 publications

References 45 publications

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins

Incontinentia pigmenti and the eye

Ectodermal Dysplasia – An Overview and Update

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