Ocular manifestations of incontinentia pigmenti

Holmström, Gerd; Thorén, Kajsa

doi:10.1034/j.1600-0420.2000.078003348.x

Cited by 105 publications

(90 citation statements)

References 21 publications

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“…Holmstrom and Thoren (1) reported ocular findings in 77% patients in their series of 30 patients. These authors identified two groups of patients: one with serious manifestations (43% patients) and one with minor ocular changes.…”

Section: Discussionmentioning

confidence: 99%

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Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti

Neto¹,

Moreira²,

Moreira³

2014

Arquivos Brasileiros De Oftalmologia

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Incontinentia pigmenti (IP) is an X-linked dominant disorder affecting the skin, teeth, eyes, and central nervous system. Ocular changes are common and may lead to severe vision loss. We report on the ocular manifestations in two young girls with IP, with emphasis on the asymmetry of this condition in both eyes and associated retinal problems. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

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Section: Discussionmentioning

confidence: 99%

“…It is inherited as an X-linked dominant condition and is fatal in males (1) . Diagnosis is made on the basis of skin biopsy.…”

Section: Introductionmentioning

confidence: 99%

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti

Neto¹,

Moreira²,

Moreira³

2014

Arquivos Brasileiros De Oftalmologia

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“…techniques as xenon laser photocoagulation or cryosurgery could be used in retinal affections [2]. Seizures should be treated with anticonvulsants.…”

Section: Discussionmentioning

confidence: 99%

Incontinentia Pigmenti in a newborn: Case report and review of the literature

Fonseca¹,

Ribeiro²,

Lira³

et al. 2016

JPS

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Incontinentia Pigmenti (IP) is a rare X-linked dominant genodermatosis resulting from mutations in IKBKG gene, affecting primary females. Most cases present with early dermatologic changes, but clinical features can be found in hair, teeth, nails, eyes, and central nervous system (CNS). A typical 4 stages skin chronologic evolution occurs from the first weeks of life and may persist into adulthood: vesicobullous, verrucous/inflammatory, hyperpigmentar and atrophic (some stages may overlap). A distribution pattern along Blaschko's Lines (BL) is typical. We describe a newborn report focusing on the aesthetic relevance and we enhance an early and correct diagnosis based on reviewed literature. A 6-day-old female neonate presented with a progressive vesicobullous eruption in the trunk, limbs and scalp, as well as infected skin lesions. No systemic involvement was found and she underwent intravenous antibiotherapy. Inflammatory markers, blood culture and polymerase chain reaction (PCR) studies to herpes simplex virus (HSV) and varicella-zoster virus (VZV) were negative. Skin biopsy was compatible with IP and IKBKG mutation was confirmed. There was spontaneous regression of most skin lesions. She had no extra-cutaneous complications and growth and psychomotor development were satisfactory until 18-months-old. This report alerts to a rare disease with potential morbidity and great aesthetic relevance, often misdiagnosed and mistaken for more common neonatal skin infections.

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“…Figura 2: Retinografia revelando áreas de hipopigmentação com focos de hiperplasia do epitélio pigmentado da retina em ambos olhos microftalmia, catarata, pigmentação conjuntival, alterações corneanas, hipoplasia iriana, uveíte, nistagmo, estrabismo e miopia (3) . O objetivo desse trabalho é relatar um caso de Síndrome de Incontinentia Pigmenti com alterações retinianas importantes, suas características clínicas, diagnóstico e acompanhamento.…”

Section: Figura 1: Dentes Malformadosunclassified

“…Manifestações dentárias ocorrem em 65% dos casos, e inclui anodontia, dentição atrasada e dentes malformados. Porém, os distúrbios visuais e neurológi-cos são os aspectos mais significantes na doença (3) . Manifestações oculares, geralmente assimétricas, são descritas em 35% dos casos.…”

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Manifestações clínicas e desafios diagnósticos na Síndrome de incontinentia pigmenti

Kataguiri¹,

Martins²,

Yamada³

et al. 2010

Rev. bras.oftalmol.

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RESUMOA Síndrome de Incontinentia Pigmenti (Síndrome de Bloch-Sulzberger) é uma doença rara, ligada ao cromossomo X e envolve tecidos ectodérmicos de múltiplos órgãos. As manifestações oculares surgem ao nascimento ou após algumas semanas. O objetivo desse trabalho é relatar as características oftalmológicas, dermatológicas e os achados radiológicos de uma paciente com a Síndrome de Incontinentia Pigmenti. Trata-se de uma paciente do sexo feminino, 26 anos que procurou o serviço de Oftalmologia da Faculdade de Medicina do ABC com queixa de baixa de visão em ambos os olhos há 1 ano. Apresentava alterações retinianas importantes e lesões cutâneas e dentárias sugestivas de síndrome de Incontinentia Pigmenti, confirmada por biópsia de pele. Conclui-se que o diagnóstico precoce é essencial, pois as lesões retinianas podem levar a sequelas graves e cegueira.

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Ocular manifestations of incontinentia pigmenti

Cited by 105 publications

References 21 publications

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti

Incontinentia Pigmenti in a newborn: Case report and review of the literature

Manifestações clínicas e desafios diagnósticos na Síndrome de incontinentia pigmenti

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