Incontinentia pigmenti and hypomelanosis of Ito

Bodemer, Christine

doi:10.1016/b978-0-444-52891-9.00040-3

Cited by 25 publications

(29 citation statements)

References 37 publications

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“…CNS: Abnormal findings in 20% of patients including white matter signal changes, migrational abnormalities, cerebellar hypoplasia, cerebral hemiatrophy, generalized cerebral atrophy, porencephaly, and intracranial arteriovenous malformation . Hemimegalencephaly and callosal hypoplasia also reported …”

Section: Glossarymentioning

confidence: 87%

“…Somatic findings: Cutaneous manifestations with a linear pattern along Blaschko lines are highly suggestive in females from the first days of life . Additionally, incomplete dentition, retinal pigment abnormalities, cleft lip and palate, and short stature.…”

Section: Glossarymentioning

confidence: 99%

“…On follow‐up encephalomalacia with secondary thinning of the corpus callosum and ventriculomegaly may develop . Additionally, heterotopia and polymicrogyria possible …”

Section: Glossarymentioning

confidence: 99%

“…Skeleton: Extra ribs, hemivertebrae, kyphoscoliosis, and microcephaly. 165 CNS: Variable findings including restricted diffusion in the deep and subcortical white matter and cortex with matching hypointense foci on susceptibility-weighted imaging in the acute phase suggesting ischemia with secondary hemorrhages (Fig 17). 248 On follow-up encephalomalacia with secondary thinning of the corpus callosum and ventriculomegaly may develop.…”

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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Section: Glossarymentioning

confidence: 87%

Section: Glossarymentioning

confidence: 99%

“…On follow‐up encephalomalacia with secondary thinning of the corpus callosum and ventriculomegaly may develop . Additionally, heterotopia and polymicrogyria possible …”

Section: Glossarymentioning

confidence: 99%

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…Bizim olgumuzda da histopatolojik incelemesinde dar bir alanda pigment azlığı İto hipomelanozunu desteklerken komşu alandaki bazal tabakada pigment artışı hastanın deri tipi ile uyumlu olarak değerlendirildi. İto hipomelanozuna, santral sinir sistemi (mental ve motor retardasyon, hipotoni, hiperkinezi, ataksi, epilepsi, konuşma bozukluğu veya geriliği), göz (strabismus, miyopi, mikroftalmi), saç (fokal hipertrikoz), diş (dental displazi), kas-iskelet sistemi anomalileri (yüz ve ekstremite asimetrisi, kifoskolyoz, el ve ayak parmak anomalileri) sıklıkla eşlik edebilen anomalilerdir (1,2,4,5). Bu deri dışı bulgular hastaların %75-94'ünde görülmektedir ve en sık santral sinir sistemi tutulur (4).…”

Section: Sayın Editörunclassified

Hypomelanosis of Ito: A Case Report

Akyürek¹,

Kurtipek²,

Ataseven³

et al. 2016

tdd

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İto hipomelanozu; 1952 yılında Japon dermatolog Minor Ito tarafından, nadir görülen bir nörokutanöz sendrom olarak "İnkontinensiya Pigmenti Akromians" adıyla tanımlanmıştır. İto hipomelanozu, Blaschko çizgilerine uygun olarak yerleşim gösteren karakteristik kutanöz hipopigmentasyon ve sıklıkla buna eşlik eden nörolojik, kas-iskelet sistemi, oküler, saç ve/ veya kromozomal anormallikler bulunan bir nörokutanöz hastalıktır (1,2).Beş yaşındaki erkek hasta vücudunda beyaz lekeler nedeniyle polikliniğimize başvurdu. Hikayesinden lezyonların bir yıl önce başladığı, giderek arttığı ayrıca hipopigmente lezyonların öncesinde vezikül, bül, verrüköz görünüm veya hiperpigmentasyon olmadığı öğrenildi. Hastanın geçirilmiş herhangi bir epileptik nöbet hikayesi yoktu. Dermatolojik muayenesinde; Blaschko çizgilerini takip eden gövde ön ve arka yüzünde yerleşim gösteren lineer hipopigmente yamalar mevcuttu (Resim 1, 2). Hastanın hipopigmente lezyonunun histopatolojik incelemesinde epidermiste hafif hiperkeratoz, dar bir alanda bazal tabakada pigment azlığı ve buna komşu olan bölgede bazal tabakada pigment artışı, papiller dermiste perivasküler mononükleer hücre infiltrasyonu izlendi (Resim 3). Nörolojik muayenesinde konuşma geriliği tespit edilen hastanın beyin manyetik rezonans incelemesinde herhangi bir patoloji saptanmadı. Rutin biyokimyasal tetkikleri normal olan hastanın kas-iskelet sistemi ve göz dahil diğer sistem muayenelerinde anormal bulguya rastlanmadı. Hastaya rutin dermatoloji ve nöroloji kontrolleri önerildi.İto hipomelanozunun karakteristik kutanöz lezyonları, genellikle konjenital veya erken çocukluk çağında ortaya çıkar ve özellikle gövde ve ekstremitelerde tek taraflı veya bilateral

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Skin Conditions and Movement Disorders: Hiding in Plain Sight

Kulcsarová

Baloghová

Necpál³

et al. 2022

Movement Disord Clin Pract

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Skin manifestations are well-recognized non-motor symptoms of Parkinson's disease (PD) and other hypokinetic and hyperkinetic movement disorders. Skin conditions are usually well visible during routine clinical examination and their recognition may play a major role in diagnostic work-up. In this educational review we:(1) briefly outline skin conditions related to Parkinson's disease, including therapy-related skin complications and their management; (2) discuss the role of skin biopsies in early diagnosis of PD and differential diagnosis of parkinsonian syndromes; and focus more on areas which have not been reviewed in the literature before, including (3) skin conditions related to atypical parkinsonism, and (4) skin conditions related to hyperkinetic movement disorders. In case of rare hyperkinetic movement disorders, specific dermatological manifestations, like presence of angiokeratomas, telangiectasias, Mongolian spots, lipomas, ichthyosis, progeroid skin changes and others may point to a very specific group of disorders and help guide further investigations.

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Incontinentia pigmenti and hypomelanosis of Ito

Cited by 25 publications

References 37 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Hypomelanosis of Ito: A Case Report

Skin Conditions and Movement Disorders: Hiding in Plain Sight

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