Incontinentia pigmenti in a child with suspected retinoblastoma

Weiss, Soma; Srinivasan, Archana; Klufas, Michael A.; Shields, Carol L.

doi:10.1186/s40942-017-0088-5

Cited by 14 publications

(4 citation statements)

References 9 publications

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“…[2][3][4][5][6][7][8][9] Other less common causes of PSRB included ROP, FEVR, combined hamartoma, RAH, retinal dysplasia, incontinentia pigmenti, ciliary body melanoma, and endophthalmitis. [9][10][11][12][13][14] In the current study, PSRB rate was 31.3% among cases referred for suspicion of RB. A total of 46 various entities mimicking RB were detected.…”

Section: Discussionsupporting

confidence: 44%

“…PFV and Coats disease have been reported as the most common lesions mimicking RB in several clinical studies [2][3][4][5][6][7][8][9]. Less common causes of PSRB included retinal astrocytic hamartoma, retinal dysplasia, incontinentia pigmenti, ciliary body melanoma, and endophthalmitis [10][11][12][13][14]. In the current study, PSRB rate was 31.3% among cases referred for suspicion of RB.…”

Section: Discussionmentioning

confidence: 50%

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Pseudoretinoblastoma: Distribution based on gender, age, and laterality

Mirzayev

Gündüz

Ateş

et al. 2022

European Journal of Ophthalmology

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Purpose To investigate the distribution of pseudoretinoblastoma (PSRB) cases based on gender, age, and laterality Materials and Methods The clinical records of 607 patients (851 eyes) who were referred for diagnosis of retinoblastoma or simulating conditions between October 1998 and May 2021 were retrospectively evaluated. Patients were stratified by age as follows: ≤1 year, >1–3 years, >3–5 years, and >5 years. Results Of 190/607 PSRB patients, 129 (67.9%) were males and 61 (32.1%) females ( p = 0.001). The 3 most common diagnoses in males were Coats disease (20.2%), persistent fetal vasculature (PFV, 14.0%), and chorioretinal coloboma (6.2%). In females, the 3 most common diagnoses included PFV (21.3%), retinal dysplasia, congenital glaucoma, and combined hamartoma (each 6.6%). PFV was the most common diagnosis in ≤1 year old patient group (26.6%). Coats disease and PFV were the most common diagnoses in >1–3 years old patient group (each 16.7%). Coats disease was the most common diagnosis in >3–5 years old (30.8%) and >5 years old patient groups (13.1%). PSRBs were unilateral in 121/190 (63.7%) patients. Coats disease usually presented unilaterally (p < 0.001) while PFV, optic nerve head drusen, and retinopathy of prematurity as bilateral diseases ( p = 0.019, p = 0.001, and p = 0.001 respectively). Discussion PSRB diagnoses show differences depending on gender, age, and laterality. In our study, the most common PSRB lesions were Coats disease in males and PFV in females. PFV was the most frequent diagnosis in ≤3 years and Coats disease in >3 years of age groups. Coats disease and PFV were the most common unilateral and bilateral PSRB diagnoses respectively.

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Section: Discussionsupporting

confidence: 44%

Section: Discussionmentioning

confidence: 50%

Pseudoretinoblastoma: Distribution based on gender, age, and laterality

Mirzayev

Gündüz

Ateş

et al. 2022

European Journal of Ophthalmology

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“…Recruited eosinophils undergo degranulation and release proteases, leading to inflammation in the epidermis and other areas of the body [ 6 , 18 ]. In the event where NF-κB-deficient endothelial and other cells throughout the body have overexpression of chemotactic factors such as eotaxin, specific to eosinophils, may result in systemic eosinophilia [ 19 , 20 ]. The presence of eosinophils, in combination with other inflammatory factors, leads to extensive inflammation.…”

Section: Discussionmentioning

confidence: 99%

Central nervous system anomalies in 41 Chinese children incontinentia pigmenti

Yin,

Li,

Zhan

et al. 2024

BMC Neurosci

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Introduction Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatment strategies are available for the inflammatory phase. Materials and methods This retrospective descriptive analysis included the clinical data of 41 children with IP collected from 2007 to 2021 in Xi’an, China, comprising clinical characteristics, imaging findings, blood cell analysis, skin histopathology, and genetic data. Results Fourteen children (34%) aged 4 days to 5 months exhibited clinical signs and symptoms, including convulsions, delayed psychomotor development following neurological damage, and revealed significant MRI abnormalities, including ischemia, hypoxia, cerebral hypoperfusion, hemorrhage, encephalomalacia, and cerebral atrophy. Eight of the 24 patients (33%) presented with retinal vascular tortuosity and telangiectasis, accompanied by neovascularization and hemorrhage. Thirty-eight children (93%) had elevated eosinophils (mean: 3.63 ± 4.46 × 109), and 28 children (68%) had significantly elevated platelets (mean: 420.16 ± 179.43 × 109). Histopathology of skin revealed microvascular extravasation and vasodilation with perivascular and intravascular eosinophilic infiltration. Conclusion Brain injury in IP occurs during infancy until 5 months of age, which is also the acute dermatitis phase accompanied by eosinophilia and an increased platelet count. This study provides evidence of microvascular damage to the skin and fundus during the inflammatory phase. The mechanism of microvascular damage may be similar to that in the brain.

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“…In the event where NF-κB-deficient endothelial cells and other cells throughout the body have overexpression of chemotactic factors such as eotaxin, specific to eosinophils, this may result in systemic eosinophilia ( 42 , 60 , 61 ). The presence of eosinophils in combination with other inflammatory factors would lead to extensive inflammation.…”

Section: Incontinentia Pigmenti: Genetics and Pathophysiologymentioning

confidence: 99%

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

et al. 2022

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Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a regulatory protein involved in the nuclear factor kappa B (NF-κB) signaling pathway. NF-κB plays a prominent role in the modulation of cellular proliferation, apoptosis, and inflammation. IKBKG mutation that results in a loss-of-function or dysregulated NF-κB pathway contributes to the pathophysiology of IP. Aside from typical skin characteristics such as blistering rash and wart-like skin growth presented in IP patients, other clinical manifestations like central nervous system (CNS) and ocular anomalies have also been detected. To date, the clinical genotype-phenotype correlation remains unclear due to its highly variable phenotypic expressivity. Thus, genetic findings remain an essential tool in diagnosing IP, and understanding its genetic profile allows a greater possibility for personalized treatment. IP is slowly and gradually gaining attention in research, but there is much that remains to be understood. This review highlights the progress that has been made in IP including the different types of mutations detected in various populations, current diagnostic strategies, IKBKG pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder.

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Incontinentia pigmenti in a child with suspected retinoblastoma

Cited by 14 publications

References 9 publications

Pseudoretinoblastoma: Distribution based on gender, age, and laterality

Pseudoretinoblastoma: Distribution based on gender, age, and laterality

Central nervous system anomalies in 41 Chinese children incontinentia pigmenti

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

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