Raras
Buscar doenças, sintomas, genes...
Incontinência pigmentar
ORPHA:464CID-10 · Q82.3CID-11 · LD27.00OMIM 308300DOENÇA RARA

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).

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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).

Pesquisas ativas
1 ensaio
3 total registrados no ClinicalTrials.gov
Publicações científicas
1.256 artigos
Último publicado: 2026 Mar 31

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
18 sintomas
🦴
Ossos e articulações
14 sintomas
🧠
Neurológico
9 sintomas
👁️
Olhos
8 sintomas
🦷
Dentes
6 sintomas
❤️
Coração
3 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

100%prev.
HP:0003577
Frequência: 11/11
91%prev.
Bolhas anormais na pele
Muito frequente (99-80%)
90%prev.
Hiperpigmentação irregular
Muito frequente (99-80%)
90%prev.
Verrugas
Muito frequente (99-80%)
90%prev.
Morfologia anormal da unha
Muito frequente (99-80%)
90%prev.
Unha hipoplásica
Muito frequente (99-80%)
93sintomas
Muito frequente (13)
Frequente (24)
Ocasional (35)
Sem dados (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 93 características clínicas mais associadas, ordenadas por frequência.

HP:0003577
Frequência: 11/11100%
Bolhas anormais na peleAbnormal blistering of the skin
Muito frequente (99-80%)91%
Hiperpigmentação irregularIrregular hyperpigmentation
Muito frequente (99-80%)90%
VerrugasVerrucae
Muito frequente (99-80%)90%
Morfologia anormal da unhaAbnormal fingernail morphology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.256PubMed
Últimos 10 anos200publicações
Pico202435 papers
Linha do tempo
2026Hoje · 2026🧪 2005Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

IKBKGNF-kappa-B essential modulatorDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (10)
SARS-CoV-2 activates/modulates innate and adaptive immune responsesNOD1/2 Signaling PathwayTAK1-dependent IKK and NF-kappa-B activation Interleukin-1 signalingJNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
7.4 TPM
Sangue
7.3 TPM
Baço
7.2 TPM
Pulmão
7.0 TPM
Útero
6.7 TPM
OUTRAS DOENÇAS (6)
incontinentia pigmentiectodermal dysplasia and immunodeficiency 1autoinflammatory disease, X-linkedimmunodeficiency 33
HGNC:5961UniProt:Q9Y6K9

Variantes genéticas (ClinVar)

335 variantes patogênicas registradas no ClinVar.

🧬 IKBKG: GRCh38/hg38 Xq26.3-28(chrX:137491159-155700385)x2 ()
🧬 IKBKG: NM_001360016.2(G6PD):c.82C>T (p.Gln28Ter) ()
🧬 IKBKG: NC_000023.11:g.154558015_154569698del ()
🧬 IKBKG: GRCh37/hg19 Xq28(chrX:153622204-153783167)x3 ()
🧬 IKBKG: GRCh37/hg19 Xq23-28(chrX:113417246-155233731)x1 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 28 variantes classificadas pelo ClinVar.

21
4
3
Patogênica (75.0%)
VUS (14.3%)
Benigna (10.7%)
VARIANTES MAIS SIGNIFICATIVAS
IKBKG: NC_000023.11:g.154558015_154569698del [Pathogenic]
IKBKG: NM_001099857.5(IKBKG):c.574C>T (p.Gln192Ter) [Likely pathogenic]
IKBKG: NM_001099857.5(IKBKG):c.523C>T (p.Arg175Trp) [Conflicting classifications of pathogenicity]
IKBKG: NM_001099857.5(IKBKG):c.373del (p.Val125fs) [Pathogenic]
IKBKG: NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Incontinência pigmentar

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

3 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥇Melhor nível de evidência: Ensaio randomizado
Timeline de publicações
314 papers (10 anos)
#1

Hypopigmented lesions admixed with verrucous papules in a child with epidermolytic verrucous epidermal nevus.

BMJ case reports2026 Jan 06

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.

#2

Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.

Prenatal diagnosis2026 Mar 06

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.

#3

Management of incontinentia pigmenti retinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2026 Mar 12
#4

Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing.

The Journal of investigative dermatology2026 Jan
#5

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.

Journal of child neurology2025 Sep

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

Ver todas no PubMed

📚 EuropePMC1.078 artigos no totalmostrando 192

2026

Management of incontinentia pigmenti retinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2026

Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.

Prenatal diagnosis
2025

Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.

Molecular syndromology
2025

A Fulminant Case of Incontinentia Pigmenti Presenting With Early Neuro-Ophthalmologic Manifestations.

Cureus
2026

Hypopigmented lesions admixed with verrucous papules in a child with epidermolytic verrucous epidermal nevus.

BMJ case reports
2025

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.

Children (Basel, Switzerland)
2025

P20 Erythroderma in a newborn: an atypical presentation of Incontinentia Pigmenti.

The British journal of dermatology
2025

O05 Incontinentia pigmenti: clinical heterogeneity and the role of early dermatological recognition.

The British journal of dermatology
2025

Whole Exome Sequencing in Incontinentia Pigmenti: A ROP Mimicker and the Genetic Detection Dilemma.

Journal of pediatric ophthalmology and strabismus
2025

Discoid Lupus Erythematosus: A Comparative Evaluation Between Line-Field Confocal Optical Coherence Tomography and Histology in a Multicenter Cross-Sectional Study.

Experimental dermatology
2025

A Diagnostic Triad in the Vesicular Stage of Incontinentia Pigmenti.

Archives of Iranian medicine
2025

Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review.

Current medical imaging
2025

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.

Cureus
2025

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.

Human mutation
2026

Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing.

The Journal of investigative dermatology
2025

[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 genetics
2025

Clinical relevance of loss-of-function mutations of NEMO/IKBKG.

Genes &amp; diseases
2025

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.

HGG advances
2025

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Genes
2025

Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.

Journal of child neurology
2025

Rare pediatric retinal diseases: A review.

Indian journal of ophthalmology
2025

A 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 Immunology
2025

Incontinentia Pigmenti: A Rare Case of Survival of a Male Infant.

Cureus
2025

Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids.

Neurology(R) neuroimmunology &amp; neuroinflammation
2025

Detection 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 leprology
2024

Case Report: Diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient.

Frontiers in pediatrics
2025

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.

Journal of clinical medicine
2025

Incontinentia Pigmenti-Dermoscopy Features of Early Evolving Disease.

Indian dermatology online journal
2024

Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.

Orphanet journal of rare diseases
2025

Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.

The British journal of dermatology
2024

Skin Discoloration After Iatrogenic Fluorescein Dosing Error.

JAMA ophthalmology
2024

Finding NEMO in the thymus.

The Journal of experimental medicine
2024

Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti.

Annals of Indian Academy of Neurology
2024

Genetic principles related to neurocutaneous disorders.

Seminars in pediatric neurology
2024

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

The Journal of experimental medicine
2024

Intravenous fluorescein overdose in a child undergoing fluorescein angiography.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2024

Ocular genetics in the Japanese population.

Japanese journal of ophthalmology
2024

Non-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 immunology
2024

When Lines Tell You the Diagnosis - Incontinentia Pigmenti: What Else to Look For.

Neurology India
2024

Pott'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 Neurosurgery
2024

Prevalence rates for ectodermal dysplasia syndromes.

American journal of medical genetics. Part A
2024

This Month in JAAD Reviews: October 2024: A link between incontinentia pigmenti and squamous cell carcinoma.

Journal of the American Academy of Dermatology
2024

Case report: Variability in clinical manifestations within a family with incontinentia pigmenti.

Frontiers in medicine
2024

Gene therapy targeting the blood-brain barrier.

Vitamins and hormones
2024

Incontinentia pigmenti with cleft palate: A case report.

Asian journal of surgery
2024

Whorled 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-venereologica
2024

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Frontiers in pediatrics
2024

An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.

NPJ genomic medicine
2024

NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.

Journal of clinical immunology
2024

Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.

BMC neuroscience
2024

Incontinentia Pigmenti: A Series of Six Cases with Isolated Cutaneous Involvement.

Indian dermatology online journal
2024

Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.

Medicina (Kaunas, Lithuania)
2024

Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.

American journal of medical genetics. Part A
2024

Incontinentia Pigmenti in a Newborn.

Ophthalmology. Retina
2024

Ophthalmologic Presentations of Incontinentia Pigmenti.

Journal of vitreoretinal diseases
2024

Unilateral Retinopathy from Incontinentia Pigmenti.

Ophthalmology. Retina
2025

CHORIORETINAL ANASTOMOSIS AND RETINAL DETACHMENT WITH LASER PHOTOCOAGULATION-TREATED INCONTINENTIA PIGMENTI.

Retinal cases &amp; brief reports
2024

Ultrawidefield OCT Angiography of Incontinentia Pigmenti with Macular Hole.

Ophthalmology. Retina
2023

Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.

Annals of pediatric cardiology
2024

Incontinentia pigmenti Stage 1 is not simply vesiculo-bullous but vesiculo-pustular.

Pediatric dermatology
2023

Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases.

Frontiers in medicine
2023

Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report.

Case reports in ophthalmology
2023

Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant.

Turkish journal of ophthalmology
2023

X-linked genodermatoses from diagnosis to tailored therapy.

La Clinica terapeutica
2024

Variable clinical consequences of mosaicism for c.1167dupC in IKBKG in male and female patients with incontinentia pigmenti and related phenotypes.

Clinical and experimental dermatology
2024

An atypical case of incontinentia pigmenti with a hypomorphic variant.

Pediatric dermatology
2023

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.

Journal of clinical immunology
2023

Recrudescence of incontinentia pigmenti presenting as a paraneoplastic syndrome: A natural experiment of NF-kB blockade in an inflammatory malignancy.

JAAD case reports
2023

A case of familial incontinentia pigmenti in infancy without hyperpigmented stage.

Pediatric investigation
2023

Dermatologic care of patients with differences of sex development.

International journal of women's dermatology
2023

MACULAR NEUROVASCULAR ABNORMALITIES IN A CHILD WITH INCONTINENTIA PIGMENTI ON HANDHELD OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

Retinal cases &amp; brief reports
2023

Inborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.

The Pediatric infectious disease journal
2023

Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency.

Journal of clinical immunology
2023

Half-chromatid mutation as a possible cause of mosaic males and females in Hymenoptera and rare fertile male tortoiseshell cats.

Genome
2023

Case report: A case of incontinentia pigmenti.

Frontiers in medicine
2023

Thrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti.

International journal of dermatology
2023

Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result.

Clinical, cosmetic and investigational dermatology
2023

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti.

Diagnostics (Basel, Switzerland)
2023

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 reports
2022

Optical Coherence Tomography Angiography in Pediatric Retinal Disorders.

Journal of vitreoretinal diseases
2023

Neonatal incontinentia pigmenti.

Italian journal of dermatology and venereology
2023

Avascular Peripheral Retina in Infants.

Turkish journal of ophthalmology
2023

Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle.

BMJ case reports
2022

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.

Oman journal of ophthalmology
2022

Incontinentia pigmenti: What we know and can we manage it as retinopathy of prematurity?

Oman journal of ophthalmology
2022

Is Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases.

Actas dermo-sifiliograficas
2022

Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception.

Ophthalmology. Retina
2022

Dupilumab, incontinentia pigmenti, and alopecia: A serendipitous observation.

JAAD case reports
2022

Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.

Clinical and experimental dermatology
2022

Incontinentia pigmenti with intracranial arachnoid cyst: A case report.

World journal of clinical cases
2022

Dermoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions.

Dermatology practical &amp; conceptual
2022

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology.

Frontiers in pediatrics
2022

[Incontinentia pigmenti : une maladie qui se dessine sur la peau].

La Revue du praticien
2022

Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation.

Diagnostics (Basel, Switzerland)
2022

Incontinentia pigmenti and the eye.

Current opinion in ophthalmology
2022

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.

BMC pediatrics
2022

The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti.

Ophthalmology. Retina
2022

Late contralateral recurrence of retinal detachment in incontinentia pigmenti: A case report.

World journal of clinical cases
2022

NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti.

Clinical, cosmetic and investigational dermatology
2022

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti.

Clinical, cosmetic and investigational dermatology
2022

RF - Diagnosis and Management of Incontinentia Pigmenti: An Update.

Actas dermo-sifiliograficas
2022

Recurrence of vesicular stage lesions in an adult female patient with incontinentia pigmenti-including molecular analysis.

The Australasian journal of dermatology
2023

Expression Levels of Aqueous Humor Cytokines in Pediatric Patients With Incontinentia Pigmenti.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2022

Incontinentia pigmenti / Bloch-Sulzberger syndrome: a case report.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2022

Vesiculopustular Rash in a Neonate.

The Journal of pediatrics
2022

Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm.

Clinical and experimental dermatology
2022

Incontinentia Pigmenti: X-Linked Skin Disorder: A Case Report.

Neonatal network : NN
2022

Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.

International journal of molecular sciences
2021

Cutaneous mosaicism: Special considerations for women.

International journal of women's dermatology
2021

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles.

Frontiers in immunology
2022

Intraoperative OCT Angiography in Children with Incontinentia Pigmenti.

Ophthalmology. Retina
2021

Case Report: A Case of Cotton-Wool Spots After Intravitreal Injection of Conbercept in an Infant With Incontinentia Pigmenti.

Frontiers in medicine
2022

Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.

Pediatric dermatology
2022

Phenotypic and genetic spectrum of incontinentia pigmenti - a large case series.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2021

Severe COVID-19 and long COVID in a 31-year-old woman with incontinentia pigmenti: A case report.

SAGE open medical case reports
2021

An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report.

Clinical case reports
2022

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Current problems in diagnostic radiology
2021

Congenital Pigmentary Anomalies in the Newborn.

NeoReviews
2021

Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant.

The Journal of dermatology
2021

High-speed and widefield handheld swept-source OCT angiography with a VCSEL light source.

Biomedical optics express
2021

How to Deal with Skin Biopsy in an Infant with Blisters?

Dermatopathology (Basel, Switzerland)
2021

[Incontinentia pigmenti in a newborn boy].

Ugeskrift for laeger
2021

Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2021

The Anesthetic Challenges of Caring for a Pediatric Patient With Incontinentia Pigmenti: A Case Report.

A&amp;A practice
2021

Hyperpigmented Stage of Incontinentia Pigmenti.

Indian dermatology online journal
2021

Incontinentia Pigmenti: Initial Presentation of Encephalopathy and Seizures.

Cutis
2021

Development 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 Orthodontics
2021

The predictive diagnostic value of the cytological findings in incontinentia pigmenti: a preliminary report.

Clinical and experimental dermatology
2021

Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2.

Journal of clinical immunology
2021

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.

Experimental dermatology
2021

Linear and whorled hyperpigmentation: A case of incontinentia pigmenti with dermoscopic features.

Northern clinics of Istanbul
2021

Immune transcriptomes of highly exposed SARS-CoV-2 asymptomatic seropositive versus seronegative individuals from the Ischgl community.

Scientific reports
2021

Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction.

Documenta ophthalmologica. Advances in ophthalmology
2021

Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti.

Brain &amp; development
2021

The potential role of propranolol in incontinentia pigmenti.

Dermatologic therapy
2021

Neuroimaging in infants and children in select neurocutaneous disorders.

Clinical and experimental dermatology
2021

Aggressive Cutaneous Squamous Cell Carcinoma as an Adult Manifestation of Incontinentia Pigmenti.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2021

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 diseases
2021

Co-occurrence of incontinentia pigmenti and down syndrome: examining patients' potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease.

Ophthalmic genetics
2020

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.

Molecular genetics &amp; genomic medicine
2021

NeMO mutations: a rare cause of monogenic Behçet-like disease.

Rheumatology (Oxford, England)
2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Analysis 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 genetics
2020

Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti.

Japanese journal of ophthalmology
2020

Early management of sight threatening retinopathy in incontinentia pigmenti.

Orphanet journal of rare diseases
2020

Incontinentia Pigmenti: Homozygous twins with asymmetric ocular involvement.

Journal francais d'ophtalmologie
2020

Multidisciplinary 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 : JEADV
2020

Incontinentia pigmenti: multisistemic genodermatosis.

Boletin medico del Hospital Infantil de Mexico
2020

Dermatoscopic features of incontinentia pigmenti.

Indian journal of dermatology, venereology and leprology
2020

Linear crusted papules in an infant.

JAAD case reports
2020

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature.

Journal of neurosciences in rural practice
2020

A Rare Association of Retinoblastoma With Incontinentia Pigmenti.

Journal of pediatric hematology/oncology
2020

Beta HPV Type 15 Can Interfere With NF-κB Activity and Apoptosis in Human Keratinocytes.

Frontiers in cellular and infection microbiology
2020

Unilateral vesicular eruption in a neonate.

Cutis
2021

Cerebral 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 Metabolism
2020

Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9.

Stem cell research
2020

Hypomorphic mutation of IKBKG in a male patient with incontinentia pigmenti.

The Journal of dermatology
2020

Incontinentia pigmenti in boys: Causes and consequences.

Annales de dermatologie et de venereologie
2020

Spreading Vesicles in a Neonate.

The Journal of pediatrics
2020

Anaesthesia and orphan disease: A child with incontinentia pigmenti.

European journal of anaesthesiology
2020

Immunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment.

Vision (Basel, Switzerland)
2019

The color of skin: gray diseases of the skin, nails, and mucosa.

Clinics in dermatology
2020

An unusual presentation of incontinentia pigmenti.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2019

Case 2: A Newborn with a Changing Rash.

NeoReviews
2019

Incontinentia pigmenti burden scale: designing a family burden questionnaire.

Orphanet journal of rare diseases
2020

Incontinentia 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 therapy
2019

Progressive skin rashes of incontinentia pigmenti during infancy.

Pediatrics international : official journal of the Japan Pediatric Society
2019

Necrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti - a case report.

BMC pediatrics
2019

Hypomelanosis of Ito with Multiple Congenital Anomalies.

Annals of dermatology
2019

A Young Woman With Multiple Painful Subungual Nodules: Answer.

The American Journal of dermatopathology
2020

A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.

European journal of medical genetics
2019

A Female Infant With Linear Erythema and Papulovesicles at Birth and 5-Year Follow-up: Answer.

The American Journal of dermatopathology
2019

Asymptomatic Rash in a Male Infant with Incontinentia Pigmenti.

The Journal of pediatrics
2019

Clinical utility gene card: for incontinentia pigmenti.

European journal of human genetics : EJHG
2019

Congenital erosive and vesicular dermatosis in a young girl: a diagnostic dilemma.

International journal of dermatology
2019

The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.

European journal of human genetics : EJHG
2019

Corticosteroid Therapy in Neonatal Incontinentia Pigmenti With Asymptomatic Cerebral Lesions.

Pediatric neurology
2019

Retinal imaging in incontinentia pigmenti.

Indian journal of ophthalmology
2019

Multimodal retinal imaging of a 6-year-old male child with incontinentia pigmenti.

Indian journal of ophthalmology
2019

Retinopathy in incontinentia pigmenti.

Indian journal of ophthalmology
2019

Ultra-widefield fundus fluorescein angiography in pediatric retinal vascular diseases.

Indian journal of ophthalmology
2019

Incontinentia pigmenti in adults.

American journal of medical genetics. Part A
2020

[Incontinentia pigmenti. A descriptive study of experience in two different hospitals].

Anales de pediatria
2019

Questionnaire survey on association between preeclampsia and incontinentia pigmenti.

The journal of obstetrics and gynaecology research
2019

Trichoscopy of whorled alopecia revealing "pigment incontinence" of incontinentia pigmenti.

International journal of dermatology
2019

[Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].

Archivos argentinos de pediatria
2019

[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2019

A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.

Archives of oral biology
2019

Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants.

Journal of the American Academy of Dermatology
2019

Foveal Neovascularization Detected by Optical Coherence Tomography Angiography in Incontinentia Pigmenti.

JAMA ophthalmology
2019

A 3-month-old with papules and plaques in a blaschkoid distribution.

International journal of dermatology
2019

Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.

Iranian journal of kidney diseases
Ver todos os 1.078 no EuropePMC

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Doenças relacionadas

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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.

  1. Hypopigmented lesions admixed with verrucous papules in a child with epidermolytic verrucous epidermal nevus.
    BMJ case reports· 2026· PMID 41494726mais citado
  2. Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
    Prenatal diagnosis· 2026· PMID 41792984mais citado
  3. 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
  4. Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing.
    The Journal of investigative dermatology· 2026· PMID 40653004mais citado
  5. Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
    Journal of child neurology· 2025· PMID 40320849mais citado
  6. Neuroimaging features of incontinentia pigmenti: prompting genetic confirmation.
    BMJ Case Rep· 2026· PMID 41916690recente
  7. Incontinentia Pigmenti With Neonatal Encephalopathy: A Case Report and Literature Review.
    J Child Neurol· 2026· PMID 41914805recente
  8. Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
    Mol Syndromol· 2025· PMID 41625319recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:464(Orphanet)
  2. OMIM OMIM:308300(OMIM)
  3. MONDO:0010631(MONDO)
  4. GARD:6778(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Incontinência pigmentar
Compêndio · Raras BR

Incontinência pigmentar

ORPHA:464 · MONDO:0010631
Prevalência
1-9 / 1 000 000
Herança
X-linked dominant
CID-10
Q82.3 · Incontinentia pigmenti
CID-11
Ensaios
1 ativos
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4225596
EuropePMC
Wikidata
Papers 10a
Evidência
🥇 Ensaio rand.
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