A incontinência pigmentar (IP) é uma displasia ectodérmica multissistêmica dominante ligada ao X, geralmente letal em homens e apresentando-se no período neonatal em mulheres com uma erupção cutânea bolhosa ao longo das linhas de Blashko (BL) seguida por placas verrucosas evoluindo ao longo do tempo para padrões de redemoinho hiperpigmentados. É ainda caracterizada por anomalias dentárias, alopecia, distrofia ungueal e afeta ocasionalmente a retina e o sistema nervoso central (SNC).
Introdução
O que você precisa saber de cara
A incontinência pigmentar (IP) é uma displasia ectodérmica multissistêmica dominante ligada ao X, geralmente letal em homens e apresentando-se no período neonatal em mulheres com uma erupção cutânea bolhosa ao longo das linhas de Blashko (BL) seguida por placas verrucosas evoluindo ao longo do tempo para padrões de redemoinho hiperpigmentados. É ainda caracterizada por anomalias dentárias, alopecia, distrofia ungueal e afeta ocasionalmente a retina e o sistema nervoso central (SNC).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 93 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: X-linked dominant.
Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:14695475, PubMed:20724660, PubMed:21518757, PubMed:9751060). Its binding to scaffolding polyubiquitin plays a key role in IKK activation by multiple signaling receptor pathways (PubMed:16547522, PubMed:18287044, PubMed:19033441, PubMed:19185524, PubMed:21606507, PubMed:27777308, PubMed
CytoplasmNucleus
Ectodermal dysplasia and immunodeficiency 1
A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood.
Variantes genéticas (ClinVar)
335 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 28 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
30 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Incontinência pigmentar
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Hypopigmented lesions admixed with verrucous papules in a child with epidermolytic verrucous epidermal nevus.
A female infant presented with asymptomatic hyperpigmented and hypopigmented verrucous papules and plaques along Blaschko's lines on the right side of her body, with an absence of blistering, flexural accentuation or family history. A systemic examination was normal. Differentials considered were epidermal nevus, incontinentia pigmenti stage 2, lichen striatus, inflammatory linear verrucous epidermal nevus and linear epidermolytic ichthyosis (EI). A skin biopsy revealed epidermolytic hyperkeratosis (EHK). Mutation analysis could not be done as the parents were unwilling. EHK is classically seen in EI, which presents with marked blistering that resolves within a few months with hyperkeratosis; there is also accentuation around the flexures. Mosaic epidermolytic ichthyosis (mEI), a rare variant, is localised or along Blaschko's lines, as in our patient. It differs from classic EI with the absence of blistering, flexural involvement and erythroderma.Epidermolytic verrucous epidermal nevus (VEN) and mEI refer to the same condition. Approximately 5% of all cases of VEN show the histological finding of EHK. Mosaic EI represents a somatic mutation of the KRT1 and/or KRT10 genes. Evaluation for this is important as mosaic conditions may lead to full-blown EI in the offspring of affected individuals.This case is being reported due to the unusual presentation of mEI as hypopigmented with hyperpigmented lesions and also to stress the importance of biopsy when a child presents with blaschkoid lesions.
Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non-immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype-driven targeted prenatal testing and multidisciplinary care in the next-generation sequencing (NGS) era. Three unrelated families with recurrent male NIHF and negative chromosomal microarray analysis/NGS results were investigated. Genetic counselors conducted detailed maternal history-taking and physical examinations to identify subtle ectodermal features suggestive of IP. Targeted long-range PCR and multiplex ligation-dependent probe amplification (MLPA) were employed to bypass interference from the pseudogene IKBKGP1 and detect IKBKG exon 4-10 deletions. All three mothers displayed subtle ectodermal features, including hypopigmented streaks, patchy alopecia, and dental anomalies. Genetic testing revealed heterozygous IKBKG exon 4-10 deletions in all 3 mothers, and a hemizygous deletion in the third affected male fetus of Family 3-both missed by conventional short-read NGS. Prenatal ultrasound consistently demonstrated increased nuchal translucency, cervical cystic hygroma, and generalized edema, serving as early indicators of IP-related NIHF. Pseudogene-aware molecular tools combined with maternal phenotyping are essential for uncovering hidden IP and reducing unexplained fetal loss in the NGS era.
Management of incontinentia pigmenti retinopathy.
Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing.
Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
In clinical practice, cutaneous disorders associated with neurologic involvement are relatively common, as both cutaneous and systems often originate from similar or synchronous embryonic mechanisms. Cutaneous hypopigmentation includes a wide range of disorders that can be categorized congenital and acquired based on the onset, and as localized and generalized types, depending on their skin distribution. Although cutaneous hypopigmentation may appear as a benign clinical manifestation, its association with neurologic or others systemic involvement can indicate more severe underlying disorders. This literature review focuses on congenital localized types of cutaneous hypopigmentation that are classically linked to neurologic impairment. Four congenital disorders were highlighted for their characteristic presentation of localized cutaneous hypopigmentation and neurologic involvement: Waardenburg syndrome, incontinentia pigmenti, hypomelanosis of Ito, and tuberous sclerosis complex.Clinical and genetic findings for these conditions were reviewed and updated, with an emphasis on the cutaneous manifestations, associated systemic anomalies, and neurologic involvement. Established diagnostic criteria and emerging trends in therapeutic approaches were also explored. Promising results, particularly the use of mammalian target of rapamycin (mTOR) in the treatment of tuberous sclerosis complex, highlight the potential for improved outcomes. Early diagnosis, rapid treatment, and innovative therapies may play a crucial role in positively altering the clinical course of these disorders.
Publicações recentes
Neuroimaging features of incontinentia pigmenti: prompting genetic confirmation.
Incontinentia Pigmenti With Neonatal Encephalopathy: A Case Report and Literature Review.
📖 RevisãoManagement of incontinentia pigmenti retinopathy.
Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
🥇 Ensaio randomizadoDiagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
📚 EuropePMC1.078 artigos no totalmostrando 192
Management of incontinentia pigmenti retinopathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieRecurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
Prenatal diagnosisDiagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
Molecular syndromologyA Fulminant Case of Incontinentia Pigmenti Presenting With Early Neuro-Ophthalmologic Manifestations.
CureusHypopigmented lesions admixed with verrucous papules in a child with epidermolytic verrucous epidermal nevus.
BMJ case reportsA Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.
Children (Basel, Switzerland)P20 Erythroderma in a newborn: an atypical presentation of Incontinentia Pigmenti.
The British journal of dermatologyO05 Incontinentia pigmenti: clinical heterogeneity and the role of early dermatological recognition.
The British journal of dermatologyWhole Exome Sequencing in Incontinentia Pigmenti: A ROP Mimicker and the Genetic Detection Dilemma.
Journal of pediatric ophthalmology and strabismusDiscoid Lupus Erythematosus: A Comparative Evaluation Between Line-Field Confocal Optical Coherence Tomography and Histology in a Multicenter Cross-Sectional Study.
Experimental dermatologyA Diagnostic Triad in the Vesicular Stage of Incontinentia Pigmenti.
Archives of Iranian medicineMultimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review.
Current medical imagingCongenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.
CureusIncorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
Human mutationComprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing.
The Journal of investigative dermatology[Application of long-read sequencing based haplotype construction in preimplantation genetic testing for a patient with Incontinentia pigmenti].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsClinical relevance of loss-of-function mutations of NEMO/IKBKG.
Genes & diseasesLong-read sequencing is required for precision diagnosis of incontinentia pigmenti.
HGG advancesA Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.
GenesCongenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
Journal of child neurologyRare pediatric retinal diseases: A review.
Indian journal of ophthalmologyA case of Pneumocystis jirovecii pneumonia in an infant with incontinentia pigmenti.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyIncontinentia Pigmenti: A Rare Case of Survival of a Male Infant.
CureusSingle-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids.
Neurology(R) neuroimmunology & neuroinflammationDetection of variants IKBKG exon4-10 del and c.1167dupC using a novel gene-specific gap-PCR and long accurate-PCR in two families with incontinentia pigmenti.
Indian journal of dermatology, venereology and leprologyCase Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient.
Frontiers in pediatricsPartial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.
Journal of clinical medicineIncontinentia Pigmenti-Dermoscopy Features of Early Evolving Disease.
Indian dermatology online journalPrevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
Orphanet journal of rare diseasesGenome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.
The British journal of dermatologySkin Discoloration After Iatrogenic Fluorescein Dosing Error.
JAMA ophthalmologyFinding NEMO in the thymus.
The Journal of experimental medicineMelanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti.
Annals of Indian Academy of NeurologyGenetic principles related to neurocutaneous disorders.
Seminars in pediatric neurologyIncontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
The Journal of experimental medicineIntravenous fluorescein overdose in a child undergoing fluorescein angiography.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOcular genetics in the Japanese population.
Japanese journal of ophthalmologyNon-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Journal of clinical immunologyWhen Lines Tell You the Diagnosis - Incontinentia Pigmenti: What Else to Look For.
Neurology IndiaPott's puffy tumor with intracranial extension in a child with incontinentia pigmenti: case based review of the eponymous disease.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrevalence rates for ectodermal dysplasia syndromes.
American journal of medical genetics. Part AThis Month in JAAD Reviews: October 2024: A link between incontinentia pigmenti and squamous cell carcinoma.
Journal of the American Academy of DermatologyCase report: Variability in clinical manifestations within a family with incontinentia pigmenti.
Frontiers in medicineGene therapy targeting the blood-brain barrier.
Vitamins and hormonesIncontinentia pigmenti with cleft palate: A case report.
Asian journal of surgeryWhorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings.
Acta dermato-venereologicaA case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Frontiers in pediatricsAn efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
NPJ genomic medicineNF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.
Journal of clinical immunologyCentral nervous system anomalies in 41 Chinese children incontinentia pigmenti.
BMC neuroscienceIncontinentia Pigmenti: A Series of Six Cases with Isolated Cutaneous Involvement.
Indian dermatology online journalMultiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.
Medicina (Kaunas, Lithuania)Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.
American journal of medical genetics. Part AIncontinentia Pigmenti in a Newborn.
Ophthalmology. RetinaOphthalmologic Presentations of Incontinentia Pigmenti.
Journal of vitreoretinal diseasesUnilateral Retinopathy from Incontinentia Pigmenti.
Ophthalmology. RetinaCHORIORETINAL ANASTOMOSIS AND RETINAL DETACHMENT WITH LASER PHOTOCOAGULATION-TREATED INCONTINENTIA PIGMENTI.
Retinal cases & brief reportsUltrawidefield OCT Angiography of Incontinentia Pigmenti with Macular Hole.
Ophthalmology. RetinaSuccessful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.
Annals of pediatric cardiologyIncontinentia pigmenti Stage 1 is not simply vesiculo-bullous but vesiculo-pustular.
Pediatric dermatologyNovel IKBKG gene mutations in incontinentia pigmenti: report of two cases.
Frontiers in medicineFamilial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report.
Case reports in ophthalmologyExtraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant.
Turkish journal of ophthalmologyX-linked genodermatoses from diagnosis to tailored therapy.
La Clinica terapeuticaVariable clinical consequences of mosaicism for c.1167dupC in IKBKG in male and female patients with incontinentia pigmenti and related phenotypes.
Clinical and experimental dermatologyAn atypical case of incontinentia pigmenti with a hypomorphic variant.
Pediatric dermatologyAn Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.
Journal of clinical immunologyRecrudescence of incontinentia pigmenti presenting as a paraneoplastic syndrome: A natural experiment of NF-kB blockade in an inflammatory malignancy.
JAAD case reportsA case of familial incontinentia pigmenti in infancy without hyperpigmented stage.
Pediatric investigationDermatologic care of patients with differences of sex development.
International journal of women's dermatologyMACULAR NEUROVASCULAR ABNORMALITIES IN A CHILD WITH INCONTINENTIA PIGMENTI ON HANDHELD OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.
Retinal cases & brief reportsInborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.
The Pediatric infectious disease journalSplit Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency.
Journal of clinical immunologyHalf-chromatid mutation as a possible cause of mosaic males and females in Hymenoptera and rare fertile male tortoiseshell cats.
GenomeCase report: A case of incontinentia pigmenti.
Frontiers in medicineThrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti.
International journal of dermatologyIncontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result.
Clinical, cosmetic and investigational dermatologyThe Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti.
Diagnostics (Basel, Switzerland)RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
Clinical case reportsOptical Coherence Tomography Angiography in Pediatric Retinal Disorders.
Journal of vitreoretinal diseasesNeonatal incontinentia pigmenti.
Italian journal of dermatology and venereologyAvascular Peripheral Retina in Infants.
Turkish journal of ophthalmologyCombined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle.
BMJ case reportsPersistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.
Oman journal of ophthalmologyIncontinentia pigmenti: What we know and can we manage it as retinopathy of prematurity?
Oman journal of ophthalmologyIs Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases.
Actas dermo-sifiliograficasRetinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception.
Ophthalmology. RetinaDupilumab, incontinentia pigmenti, and alopecia: A serendipitous observation.
JAAD case reportsPigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clinical and experimental dermatologyIncontinentia pigmenti with intracranial arachnoid cyst: A case report.
World journal of clinical casesDermoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions.
Dermatology practical & conceptualUncovering incontinentia pigmenti: From DNA sequence to pathophysiology.
Frontiers in pediatrics[Incontinentia pigmenti : une maladie qui se dessine sur la peau].
La Revue du praticienChallenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation.
Diagnostics (Basel, Switzerland)Incontinentia pigmenti and the eye.
Current opinion in ophthalmologyIncontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.
BMC pediatricsThe Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti.
Ophthalmology. RetinaLate contralateral recurrence of retinal detachment in incontinentia pigmenti: A case report.
World journal of clinical casesNEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti.
Clinical, cosmetic and investigational dermatologyRetinal Neovascularization in Two Patients with Incontinentia Pigmenti.
Clinical, cosmetic and investigational dermatologyRF - Diagnosis and Management of Incontinentia Pigmenti: An Update.
Actas dermo-sifiliograficasRecurrence of vesicular stage lesions in an adult female patient with incontinentia pigmenti-including molecular analysis.
The Australasian journal of dermatologyExpression Levels of Aqueous Humor Cytokines in Pediatric Patients With Incontinentia Pigmenti.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Incontinentia pigmenti / Bloch-Sulzberger syndrome: a case report.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaVesiculopustular Rash in a Neonate.
The Journal of pediatricsIncontinentia pigmenti in a male infant and a proposed diagnostic algorithm.
Clinical and experimental dermatologyIncontinentia Pigmenti: X-Linked Skin Disorder: A Case Report.
Neonatal network : NNHuman Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.
International journal of molecular sciencesCutaneous mosaicism: Special considerations for women.
International journal of women's dermatologyCase Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles.
Frontiers in immunologyIntraoperative OCT Angiography in Children with Incontinentia Pigmenti.
Ophthalmology. RetinaCase Report: A Case of Cotton-Wool Spots After Intravitreal Injection of Conbercept in an Infant With Incontinentia Pigmenti.
Frontiers in medicineSkin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.
Pediatric dermatologyPhenotypic and genetic spectrum of incontinentia pigmenti - a large case series.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGSevere COVID-19 and long COVID in a 31-year-old woman with incontinentia pigmenti: A case report.
SAGE open medical case reportsAn infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report.
Clinical case reportsThe Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Current problems in diagnostic radiologyCongenital Pigmentary Anomalies in the Newborn.
NeoReviewsIncontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant.
The Journal of dermatologyHigh-speed and widefield handheld swept-source OCT angiography with a VCSEL light source.
Biomedical optics expressHow to Deal with Skin Biopsy in an Infant with Blisters?
Dermatopathology (Basel, Switzerland)[Incontinentia pigmenti in a newborn boy].
Ugeskrift for laegerSpeckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyThe Anesthetic Challenges of Caring for a Pediatric Patient With Incontinentia Pigmenti: A Case Report.
A&A practiceHyperpigmented Stage of Incontinentia Pigmenti.
Indian dermatology online journalIncontinentia Pigmenti: Initial Presentation of Encephalopathy and Seizures.
CutisDevelopment of dentofacial characteristics related to Incontinentia Pigmenti syndrome: A repeated cross-sectional study.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsThe predictive diagnostic value of the cytological findings in incontinentia pigmenti: a preliminary report.
Clinical and experimental dermatologyInterferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2.
Journal of clinical immunologyImportance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
Experimental dermatologyLinear and whorled hyperpigmentation: A case of incontinentia pigmenti with dermoscopic features.
Northern clinics of IstanbulImmune transcriptomes of highly exposed SARS-CoV-2 asymptomatic seropositive versus seronegative individuals from the Ischgl community.
Scientific reportsChild with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction.
Documenta ophthalmologica. Advances in ophthalmologyLate-onset cerebral arteriopathy in a patient with incontinentia pigmenti.
Brain & developmentThe potential role of propranolol in incontinentia pigmenti.
Dermatologic therapyNeuroimaging in infants and children in select neurocutaneous disorders.
Clinical and experimental dermatologyAggressive Cutaneous Squamous Cell Carcinoma as an Adult Manifestation of Incontinentia Pigmenti.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Retinal Manifestations of Incontinentia Pigmenti: A Case Series of 14 Patients Highlighting the Importance of Intravenous Fluorescein Angiography and the Benefits of Early Laser Photocoagulation.
Journal of vitreoretinal diseasesCo-occurrence of incontinentia pigmenti and down syndrome: examining patients' potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease.
Ophthalmic geneticsMolecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.
Molecular genetics & genomic medicineNeMO mutations: a rare cause of monogenic Behçet-like disease.
Rheumatology (Oxford, England)Introduction to phacomatoses (neurocutaneous disorders) in childhood.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAnalysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
Journal of human geneticsEarly laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti.
Japanese journal of ophthalmologyEarly management of sight threatening retinopathy in incontinentia pigmenti.
Orphanet journal of rare diseasesIncontinentia Pigmenti: Homozygous twins with asymmetric ocular involvement.
Journal francais d'ophtalmologieMultidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
Journal of the European Academy of Dermatology and Venereology : JEADVIncontinentia pigmenti: multisistemic genodermatosis.
Boletin medico del Hospital Infantil de MexicoDermatoscopic features of incontinentia pigmenti.
Indian journal of dermatology, venereology and leprologyLinear crusted papules in an infant.
JAAD case reportsEpileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature.
Journal of neurosciences in rural practiceA Rare Association of Retinoblastoma With Incontinentia Pigmenti.
Journal of pediatric hematology/oncologyBeta HPV Type 15 Can Interfere With NF-κB Activity and Apoptosis in Human Keratinocytes.
Frontiers in cellular and infection microbiologyUnilateral vesicular eruption in a neonate.
CutisCerebral angiogenesis ameliorates pathological disorders in Nemo-deficient mice with small-vessel disease.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and MetabolismIncontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.
Stem cell researchHypomorphic mutation of IKBKG in a male patient with incontinentia pigmenti.
The Journal of dermatologyIncontinentia pigmenti in boys: Causes and consequences.
Annales de dermatologie et de venereologieSpreading Vesicles in a Neonate.
The Journal of pediatricsAnaesthesia and orphan disease: A child with incontinentia pigmenti.
European journal of anaesthesiologyImmunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment.
Vision (Basel, Switzerland)The color of skin: gray diseases of the skin, nails, and mucosa.
Clinics in dermatologyAn unusual presentation of incontinentia pigmenti.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGCase 2: A Newborn with a Changing Rash.
NeoReviewsIncontinentia pigmenti burden scale: designing a family burden questionnaire.
Orphanet journal of rare diseasesIncontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?
Dermatology and therapyProgressive skin rashes of incontinentia pigmenti during infancy.
Pediatrics international : official journal of the Japan Pediatric SocietyNecrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti - a case report.
BMC pediatricsHypomelanosis of Ito with Multiple Congenital Anomalies.
Annals of dermatologyA Young Woman With Multiple Painful Subungual Nodules: Answer.
The American Journal of dermatopathologyA successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.
European journal of medical geneticsA Female Infant With Linear Erythema and Papulovesicles at Birth and 5-Year Follow-up: Answer.
The American Journal of dermatopathologyAsymptomatic Rash in a Male Infant with Incontinentia Pigmenti.
The Journal of pediatricsClinical utility gene card: for incontinentia pigmenti.
European journal of human genetics : EJHGCongenital erosive and vesicular dermatosis in a young girl: a diagnostic dilemma.
International journal of dermatologyThe Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.
European journal of human genetics : EJHGCorticosteroid Therapy in Neonatal Incontinentia Pigmenti With Asymptomatic Cerebral Lesions.
Pediatric neurologyRetinal imaging in incontinentia pigmenti.
Indian journal of ophthalmologyMultimodal retinal imaging of a 6-year-old male child with incontinentia pigmenti.
Indian journal of ophthalmologyRetinopathy in incontinentia pigmenti.
Indian journal of ophthalmologyUltra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases.
Indian journal of ophthalmologyIncontinentia pigmenti in adults.
American journal of medical genetics. Part A[Incontinentia pigmenti. A descriptive study of experience in two different hospitals].
Anales de pediatriaQuestionnaire survey on association between preeclampsia and incontinentia pigmenti.
The journal of obstetrics and gynaecology researchTrichoscopy of whorled alopecia revealing "pigment incontinence" of incontinentia pigmenti.
International journal of dermatology[Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].
Archivos argentinos de pediatria[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyA novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.
Archives of oral biologyUnraveling incontinentia pigmenti: A comparison of phenotype and genotype variants.
Journal of the American Academy of DermatologyFoveal Neovascularization Detected by Optical Coherence Tomography Angiography in Incontinentia Pigmenti.
JAMA ophthalmologyA 3-month-old with papules and plaques in a blaschkoid distribution.
International journal of dermatologyMulticystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.
Iranian journal of kidney diseasesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Incontinência pigmentar.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Incontinência pigmentar
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Hypopigmented lesions admixed with verrucous papules in a child with epidermolytic verrucous epidermal nevus.
- Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
- Management of incontinentia pigmenti retinopathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie· 2026· PMID 41817720mais citado
- Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing.
- Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
- Neuroimaging features of incontinentia pigmenti: prompting genetic confirmation.
- Incontinentia Pigmenti With Neonatal Encephalopathy: A Case Report and Literature Review.
- Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:464(Orphanet)
- OMIM OMIM:308300(OMIM)
- MONDO:0010631(MONDO)
- GARD:6778(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q884590(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
