The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti

Danford, Ian; Scruggs, Brittni A.; Capone, Antonio; Trese, Michael T.; Drenser, Kim A; Nudleman, Eric; Amphornphruet, Atchara; Tipsuriyaporn, Boontip; Hubbard, G. Baker; Ells, Anna L.; Harper, C. Armitage; Goldstein, Jessica; Calvo, Charles M.; Wallace-Carrete, Chris; Berry, D. H.; Chang, Emmanuel; Leishman, Lisa; Shapiro, Michael J.; Blair, Michael P.; Mikhail, Mikel; Shields, Carol L.; Schwendeman, Rachel; Yonekawa, Yoshihiro; Gupta, Mrinali P.; Orlin, Anton; Prakhunhungsit, Supalert; Mukai, Sonoyo; Berrocal, Audina M.; Hartnett, M. Elizabeth; Campbell, J. Peter

doi:10.1016/j.oret.2022.05.032

Cited by 3 publications

(3 citation statements)

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“…[ 32 ] ➔ Breast and nipple hypoplasia and aplasia, supernumerary nipples can occur. ➔ Ocular anomalies like proliferative retinopathy,[ 33 ] microaneurysms, macular occlusive disease, non-perfusion, and rarely microphthalmia. ➔ Neurologic symptoms include lethargy, poor feeding, seizures, neurocognitive impairment, and stroke.…”

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

confidence: 99%

“… ➔ Neurologic symptoms include lethargy, poor feeding, seizures, neurocognitive impairment, and stroke. [ 33 ] …”

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

confidence: 99%

“…➔ Ocular anomalies like proliferative retinopathy,[ 33 ] microaneurysms, macular occlusive disease, non-perfusion, and rarely microphthalmia.…”

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

confidence: 99%

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

confidence: 99%

“… ➔ Neurologic symptoms include lethargy, poor feeding, seizures, neurocognitive impairment, and stroke. [ 33 ] …”

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

confidence: 99%

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Ectodermal Dysplasia – An Overview and Update

Dev,

Malhi,

Mahajan

2024

Indian Dermatology Online Journal

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Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception

Han¹

2022

Ophthalmology Retina

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A Neonate With a Rash

Kazemi-Butterfield,

Asamoah,

Little

et al. 2023

Pediatrics

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A full-term female was admitted at 3 days of life with a worsening rash since birth, concerning for infection. She developed clinical seizures and was transferred to our facility. She was admitted to the pediatric hospital medicine service and diagnostic workup was expanded with several specialists consulted. Presumptive diagnosis was made clinically, with definitive diagnosis established thereafter.

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The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti

Cited by 3 publications

References 32 publications

Ectodermal Dysplasia – An Overview and Update

Ectodermal Dysplasia – An Overview and Update

Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception

A Neonate With a Rash

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