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Christof Senger - One of the best experts on this subject based on the ideXlab platform.
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therapy resistant neonatal seizures linear vesicular rash and unusually early neuroradiological changes Incontinentia pigmenti a case report literature review and insight into pathogenesis
European Journal of Pediatrics, 2008Co-Authors: Gregor W Kaczala, Manuela A Messer, Ken J Poskitt, Juliette S Prendiville, Jane A Gardiner, Christof SengerAbstract:Case presentation A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21 hours and empiric anticonvulsive and antimicrobial treatment was started. At 25 hours, first vesicles appeared. While routine evaluations remained normal, a head CT revealed multifocal ischemic injuries, and a later MRI showed multifocal petechiae and diffusion abnormalities in the corticospinal tracts. The clinical diagnosis of Incontinentia pigmenti (stage 1) was secured by histopathology. Follow-up at 13 months showed global developmental delay.
Morton F Goldberg - One of the best experts on this subject based on the ideXlab platform.
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variable expression of retinopathy in a pedigree of patients with Incontinentia pigmenti
Retina-the Journal of Retinal and Vitreous Diseases, 2015Co-Authors: Connie J Chen, Ian C Han, Morton F GoldbergAbstract:Purpose:To characterize the varied ocular manifestations of Incontinentia pigmenti (IP) in a large pedigree.Methods:All available members of the kindred who were affected with IP were examined with ophthalmoscopy, wide-field color photos, and fluorescein angiography.Results:Individual family members
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high dose glucocorticoid therapy in the management of seizures in neonatal Incontinentia pigmenti a case report
Journal of Child Neurology, 2015Co-Authors: Morton F Goldberg, David S Wolf, Christopher W Golden, Julie Hooverfong, Carolyn D Applegate, Bernard A Cohen, Emily L Germainlee, Thomas O Crawford, Estelle B GaudaAbstract:Incontinentia pigmenti is an X-linked dominant disorder resulting from a mutation of IKBKG. This disorder has a classic dermatologic presentation, but neurologic involvement, with seizures and cortical infarction, can arise shortly after birth. There are no specific therapies available for the manifestations of Incontinentia pigmenti. Here, we describe the clinical, electrographic, and neuroradiologic effect of systemic glucocorticoid therapy in a neonate with Incontinentia pigmenti manifesting an epileptic encephalopathy. Treatment with dexamethasone led to a dramatic reduction in seizure activity and improvement in bullous lesions. A novel mutation in IKBKG is also reported.
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histopathologic and trypsin digestion studies of the retina in Incontinentia pigmenti
Ophthalmology, 2008Co-Authors: Robert W Bell, Richard W Green, Morton F GoldbergAbstract:Objective To report the ocular histopathologic features of a 55-year-old patient with Incontinentia pigmenti retinopathy. Design Observational case report. Participant A 55-year-old patient with Incontinentia pigmenti retinopathy. Methods Examination of eyes by light microscopy and retinal trypsin digestion. Main Outcome Measures Clinical and histopathological findings. Results Histopathologic examination disclosed inner retinal ischemic atrophy, capillary beading, arteriolar–venous anastomoses, preretinal neovascularization, vasculopathy located at the junction of central vascular and peripheral avascular retina, retinal tears, and tractional retinoschisis. Conclusions Patients with retinal manifestations of Incontinentia pigmenti may progress to proliferative vitreoretinopathy or retinal detachment and should be observed closely over the course of their lifetime.
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intracranial assessment of Incontinentia pigmenti using magnetic resonance imaging angiography and spectroscopic imaging
JAMA Pediatrics, 1995Co-Authors: Andrew G Lee, Morton F Goldberg, Jonathan H Gillard, Peter B Barker, Nick R BryanAbstract:Objective: To evaluate patients with Incontinentia pigmenti for evidence of cerebrovascular disease using magnetic resonance imaging techniques. Design: A prospective case series of seven patients (four of whom were related) with Incontinentia pigmenti using magnetic resonance imaging, magnetic resonance angiography, and multislice proton ( 1 H) magnetic resonance spectroscopic imaging. Setting: The Johns Hopkins Medical Institutions, Baltimore, Md, a tertiary, referred care center. Patients: Seven patients with a diagnosis of Incontinentia pigmenti. Results: Five of the seven patients had abnormal magnetic resonance imaging consistent with small-vessel occlusions. Of these five patients, four had normal magnetic resonance angiography and spectroscopic imaging, and one patient had reduced middle cerebral artery flow on magnetic resonance angiography and increased lactate level in the cerebrospinal fluid on spectroscopic imaging. The remaining two patients had normal magnetic resonance imaging and spectroscopic imaging. Of these two patients, one had normal magnetic resonance angiography and the other had a right supraclinoid internal carotid aneurysm. There was substantial concordance between clinical (ophthalmic/neurologic) and imaging abnormalities. Conclusions: The central nervous system changes in patients with Incontinentia pigmenti may represent the result of small-vessel occlusive phenomena in the brain. These central nervous system findings may share a common pathophysiologic state with the vascular occlusive disease seen in the retinas of these patients. The changes in the retinal vasculature may serve as a potential marker for central nervous system disease. Physicians should be aware of the systemic and debilitating nature of Incontinentia pigmenti. (Arch Pediatr Adolesc Med. 1995;149:573-580)
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the blinding mechanisms of Incontinentia pigmenti
Ophthalmic Genetics, 1994Co-Authors: Morton F GoldbergAbstract:The ocular and cerebral abnormalities associated with Incontinentia pigmenti, an X-linked dominant disease with characteristic cutaneous features, are far worse than the name would indicate. Although some patients have normal vision, total blindness or permanent visual deficiency may occur. Retinal vascular abnormalities, involving the periphery as well as the macula, appear to represent the primary disease process in the eye. Retinal detachment may then ensue, due to mechanisms that seem analogous to those of retinopathy of prematurity. Optic nerve atrophy and occipital lobe infarction are additional causes of severe visual dysfunction in some patients. For the first time, neonatal infarction of the macula is documented in this disease. The purpose of this report is to describe the visually disabling ocular and cerebral manifestations in five selected cases of Incontinentia pigmenti.
Gregor W Kaczala - One of the best experts on this subject based on the ideXlab platform.
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therapy resistant neonatal seizures linear vesicular rash and unusually early neuroradiological changes Incontinentia pigmenti a case report literature review and insight into pathogenesis
European Journal of Pediatrics, 2008Co-Authors: Gregor W Kaczala, Manuela A Messer, Ken J Poskitt, Juliette S Prendiville, Jane A Gardiner, Christof SengerAbstract:Case presentation A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21 hours and empiric anticonvulsive and antimicrobial treatment was started. At 25 hours, first vesicles appeared. While routine evaluations remained normal, a head CT revealed multifocal ischemic injuries, and a later MRI showed multifocal petechiae and diffusion abnormalities in the corticospinal tracts. The clinical diagnosis of Incontinentia pigmenti (stage 1) was secured by histopathology. Follow-up at 13 months showed global developmental delay.
Christine Bodemer - One of the best experts on this subject based on the ideXlab platform.
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early management of sight threatening retinopathy in Incontinentia pigmenti
Orphanet Journal of Rare Diseases, 2020Co-Authors: S Michel, Christine Bodemer, S Hadjrabia, Clothilde Reynaud, Alejandra Daruich, Dominique Bremondgignac, Matthieu P RobertAbstract:Early blindness secondary to incurable retinal detachment is one of the main complications of Incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP. All files of patients diagnosed with IP within the two first months of life in a single tertiary referral center, between 2010 and 2015, were retrospectively included. The minimum follow-up duration was three years. Patients had undergone systematic indirect ophthalmoscopy examination, looking for signs of peripheric retinal vasculopathy, according to a standardized schedule: at diagnosis, at age 1, 2, 3, 6, 9, 12, 18 and 24 months, and then once a year. Urgent laser therapy was performed under anesthesia in case of signs of retinal ischemia. Nineteen children files (17 girls) were studied. Median age at IP diagnosis was 1 day [0–44]; median age at first retinal evaluation was 25 days. Retinal manifestations occurred in 7 patients (n = 10/38 eyes, 26.3%); they were diagnosed at median age 19 days [3–59]. These patients underwent one or two ablative session per eye (mean 1.7, median 2), under general anaesthesia. No retinal detachment or fold occurred during the follow-up (median 6 years [3–9.8]). Ocular screening should be performed in all cases of IP as soon as possible after diagnosis. A strict ophthalmological monitoring and prophylactic treatment of retinal vasculopathy can efficiently prevent the early blinding complications of the disease.
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a case of reversible pulmonary arterial hypertension associated with Incontinentia pigmenti
Pulmonary circulation, 2018Co-Authors: Veronique Atallah, Christine Bodemer, Mathilde Meot, Manoelle Kossorotoff, Louise Galmicherolland, Claude Lardeux, Benedicte Neven, Damien BonnetAbstract:Incontinentia pigmenti (IP) is a multisystemic disorder in which pulmonary arterial hypertension (PAH) is a severe and rarely reported association. The prognosis has been poor in reported cases. In our patient, IP was diagnosed during the neonatal period with a combination of cutaneous, ophthalmic, and neurological symptoms. The infant experienced severe collapse with bradycardia during general anesthesia to treat retinal telangiectasia. Echocardiography after resuscitation revealed suprasystemic pulmonary hypertension (PH). Right heart catheterization (RHC) confirmed precapillary PAH not responding to acute vasodilatation test. Lung biopsy was performed to exclude alveolo-capillary dysplasia. Upfront triple therapy with endothelin receptor antagonist, PDE5 inhibitors, and prostacyclin was started. Due to a potential inflammatory mechanism of this acute PAH in the setting of IP, TNF-alpha blockers and steroids were associated. The evolution was favorable with progressive normalization of the pulmonary artery pressure confirmed by RHC after six months. Doses of PAH drugs were tapered down, and finally all PAH treatments could be stopped after 18 months. Subsequent controls including physical exams and echocardiograms did not show signs of PH. This unusual reversible case of pediatric PAH without associated congenital heart disease or portal hypertension highlights the potential reversibility of pediatric PH when an inflammatory mechanism can be suspected. This is the first reported case of non-fatal isolated PAH associated with IP.
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postzygotic mosaicism and Incontinentia pigmenti in male patients molecular diagnosis yield
British Journal of Dermatology, 2018Co-Authors: Z Alabdullatif, Jerome Coulombe, Julie Steffann, Christine Bodemer, S HadjrabiaAbstract:Incontinentia pigmenti (IP, MIM 308300) is an X-linked dominant genodermatosis caused by the more frequently occurring (80% of cases) deletion mutation Δ 4-10 on IKBKG gene, located on chromosome Xq28. Incontinentia pigmenti is generally lethal in male fetuses, while heterozygous females survive owing to functional mosaicism.1 Two potential mechanisms have been proposed to explain the survival of male patients with IP carrying IKBKG mutation: (1) abnormal karyotype, i.e. 47, XXY Klinefelter syndrome; (2) more frequently postzygotic mosaicism for IKBKG mutation.2 Detection of postzygotic mosaicism is dependant of tissue sampling localization and percentage of mutated cells in the sample. This article is protected by copyright. All rights reserved.
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Incontinentia pigmenti and hypomelanosis of ito
Handbook of Clinical Neurology, 2013Co-Authors: Christine BodemerAbstract:Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous disorder affecting ectodermal tissue: skin, eyes, central nervous system, hair, nails, and teeth. It is usually lethal for males in utero. The involved gene is NEMO, an essential component of the nuclear factor-kappa B (NF-κB) signaling pathway. Skin lesions are highly diagnostic, occurring in neonates, with a particular distribution on Blaschko lines. The severity of the disease is related to ocular and neurological impairment. The hallmark of ocular IP is retinal vasculopathy including peripheral retinal vascular nonperfusion, macular infarction and neovascularization, and preretinal neovascularization. CNS involvement consists of seizures, mental retardation, hemiparesis, spasticity, microcephaly, cerebellar ataxia, and coma. It often occurs in neonates. Some patients have persistent pharmacoresistant seizures throughout life. MRI findings consist essentially in: white-matter lesions; scattered cortical neuronal necrosis; multiple cerebral infarctions; cerebral atrophy, hypoplasia of the corpus callosum, encephalomalacia and neuronal heterotopia. A predominant role of vascular occlusive phenomena in small vessels is highly suspected. In fact several intricate mechanisms could be discussed: vascular, inflammatory, developmental mechanisms. Their role and predictive factors of IP CNS involvement in neonatal IP need to be better understood to identify effective innovative therapies. Hypomelanosis of Ito can occur in the neonate, infancy, or childhood, be isolated or diffuse, often following the Blaschko lines, and can fade in childhood or adulthood. It is due to reduced melanin in the epidermis. Eye, central nervous (mental retardation, epilepsy, language disabilities, motor system dysfunction, psychiatric symptoms including autism - with frequent cortical malformations including hemimegalencephaly and white matter involvement), and musculoskeletal systems can also be affected. Mosaicism with various chromosomal rearrangements has been reported.
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clinical study of 40 cases of Incontinentia pigmenti
Archives of Dermatology, 2003Co-Authors: S Hadjrabia, David Froidevaux, Nathalie Bodak, D Hamelteillac, Asma Smahi, Yasmina Touil, S Fraitag, Yves De Prost, Christine BodemerAbstract:Objective To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of Incontinentia pigmenti (IP). Design Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999. Setting The private or institutional practice of participating dermatologists and pediatricians. Main Outcome Measures Evaluation of IP clinical diagnosis using the Landy and Donnai criteria. Results Because hyperpigmentation following the Blaschko lines may be observed in several pigmented disorders, 7 patients were found misdiagnosed. During the neonatal period, erythema, vesicles, and hyperkeratotic le sions were rarely absent in the patients with IP. Ocular and neurological abnormalities were frequent (20% and 30%, respectively) but rarely severe (8% and 7.5%, respectively). Conclusions Clinical diagnosis is the first main step for a correct phenotype/genotype correlation, which remains indispensable to better understand the pathological mechanisms of IP and develop new therapies. In doubtful cases, molecular analysis is helpful but characteristic histological features must be added as major criteria for IP diagnosis. Multidisciplinary follow-up is needed, particularly during the first year of life, to detect possible ophthalmologic and neurological complications. Neuroimaging ought to be performed in the case of abnormal neurological examination results or when vascular retinopathy is detected.
Vinodh Narayanan - One of the best experts on this subject based on the ideXlab platform.
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Incontinentia pigmenti bloch sulzberger syndrome
Handbook of Clinical Neurology, 2015Co-Authors: Mohan J Narayanan, Sampathkumar Rangasamy, Vinodh NarayananAbstract:Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome; OMIM #308300) is an X-linked dominant neurocutaneous disorder with presumed male lethality. It is usually diagnosed in female newborns based on skin features (erythematous, vesicular, or bullous eruption in linear streaks). The skin lesions evolve into a verrucous stage, followed by atrophy and scarring, leaving linear areas of hypopigmentation and hyperpigmented macules in bizarre patterns following Blaschko's lines. Systemic and neurologic complications include focal seizures and hemorrhagic cerebral infarction in infants, and retinal vasculopathy leading to blindness. Hypodontia, conical or pegged teeth, and linear areas of alopecia persist into adulthood. IP is caused by mutation of the IKBKG/NEMO gene on Xq28. Deletion of exons 4 to 10 (NEMOΔ4-10) accounts for about 80% of cases (familial and sporadic). NEMO mutation leads to loss of function of NF-κB, a critical protein that modulates cellular proliferation, apoptosis, and response to proinflammatory factors, leading to the characteristic features of IP. In female carriers, selective loss of cells expressing the mutant X-chromosome results in completely skewed X-inactivation in the majority of cases. Study of mouse models in which various components of the NF-κB pathway (including NEMO) have been knocked out has contributed significantly to our understanding of disease pathogenesis.
