A ictiose arlequim (HI) é a variante mais grave da ictiose congênita autossômica recessiva (ARCI). É caracterizada ao nascimento pela presença de escamas grandes, espessas e semelhantes a placas em todo o corpo, associadas a ectrópio grave, eclábio e orelhas achatadas, que mais tarde evolui para eritrodermia descamativa grave.
Introdução
O que você precisa saber de cara
A ictiose arlequim (HI) é a variante mais grave da ictiose congênita autossômica recessiva (ARCI). É caracterizada ao nascimento pela presença de escamas grandes, espessas e semelhantes a placas em todo o corpo, associadas a ectrópio grave, eclábio e orelhas achatadas, que mais tarde evolui para eritrodermia descamativa grave.
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
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 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: Autosomal recessive.
Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function (PubMed:16007253, PubMed:20869849). In the meantime, participates in the transport of the lamellar g
Cytoplasmic vesicle, secretory vesicle membraneGolgi apparatus membrane
Ichthyosis, congenital, autosomal recessive 4A
A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
Variantes genéticas (ClinVar)
287 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 — Ictiose Harlequim
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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
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis.
Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond-shaped plates that cover a significant portion of their bodies. Infants with this disease have difficulty regulating body temperature and maintaining hydration, leading to respiratory failure and feeding problems, making them more vulnerable to infections. Most patients die shortly after birth because of these clinical symptoms. Scientific evidence has shown that a mutation in the ABCA12 gene is the principal underlying cause of HI. Using whole-exome sequencing, we identified a novel mutation in an Iranian infant with HI. This case presented with characteristic cutaneous manifestations, leading to the discovery of a novel homozygous mutation in the ABCA12 gene. This specific mutation [c.4702_4706del, p.(Leu1568IlefsTer5)] has not been reported in any other cases of harlequin ichthyosis and was detected in a heterozygous state in asymptomatic parents. The insights gained from analyzing this family enhance our understanding of the disease's molecular origin, aid in carrier identification, support genetic counseling, and emphasize the importance of prenatal genetic screening for families with a history of HI.
Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis.
Skin lamellar bodies: a unique set of lysosome-related organelles.
Skin lamellar bodies (LBs) are crucial for forming and renewing the protective skin barrier, which regulates the body's internal environment and integrity. LB dysfunction is associated with severe disease conditions such as atopic dermatitis, Netherton syndrome and Harlequin ichthyosis, among others. Despite its importance in human physiology, the intracellular origin and biogenesis mechanism of LBs remain largely unknown. LBs are lysosome-related organelles (LRO), a group of cell type-specific organelles having unique structures, cargo content, and function. Classical LROs such as melanosomes, lung lamellar bodies and Weibel-Palade bodies share overlapped molecular machinery/mechanisms and are co-affected in genetic disorders like Hermansky-Pudlak syndrome (HPS) or Chédiak-Higashi syndrome (CHS). In contrast, LBs contain a diverse array of protein and lipid cargo that are notably different from those found in other LROs, and LBs are not reported to be affected in HPS/CHS. LBs form in an advanced differentiation state of keratinocytes while cells are experiencing high ions and low nutrients in their exterior, the plasma membrane (PM) undergoing modifications, and intracellular organelles starting to disappear. This article discusses atypical conditions of LB biogenesis in comparison to classical LROs, which may potentially guide future research on LB biogenesis.
[Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene].
To explore the clinical and genetic characteristics of five fetuses with Harlequin ichthyosis (HI). Five fetuses with HI diagnosed at Guangdong Women and Children Hospital between 2017 and 2024 were selected as study subjects. Clinical and laboratory data were collected and reviewed. Whole exome sequencing (WES) was carried out, and candidate variants were verified by bioinformatic analysis. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202401024). The five fetuses had presented with ectropion, eclabium and contracture and flexion of fingers and toes. WES revealed that all had harbored compound heterozygous or homozygous variants of the ABCA12 gene. Among the eight types of variants, five were unreported previously. The compound heterozygous or homozygous variants of the ABCA12 gene probably underlay the HI in the five fetuses. Clinicians should be vigilant about the possibility of HI in fetus with ectropion, eclabium, and contracture and flexion of fingers and toes.
Harlequin Ichthyosis in a Preterm Neonate: A Case Report.
Harlequin ichthyosis is a rare autosomal recessive disorder characterized by severe hyperkeratosis and impaired skin barrier function, often associated with high neonatal mortality. We present the case of a preterm neonate born by cesarean section at 32 weeks of gestation with classical features of Harlequin ichthyosis, confirmed by genetic testing. Despite intensive neonatal and dermatologic management, the patient developed multiorgan complications and died on the 30th day of life. This report emphasizes the importance of early diagnosis, supportive care, and genetic counseling for affected families.
Publicações recentes
Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis.
Epidemiology and Clinical Characteristics of Harlequin Ichthyosis: A Systematic Review and Meta-Analysis of Case Reports.
Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis.
Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis.
[Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene].
📚 EuropePMC194 artigos no totalmostrando 135
Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis.
Clinical dysmorphologyIdentification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis.
Clinical case reports[Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHarlequin Ichthyosis in a Preterm Neonate: A Case Report.
CureusABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.
Veterinary dermatologyA Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings.
Clinical case reportsEarly Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review.
Clinical case reports"Fetal clues to Harlequin ichthyosis: Bridging sonography with genetic breakthroughs".
Taiwanese journal of obstetrics & gynecologyHarlequin Ichthyosis: A Case Report.
Clinical case reportsSkin lamellar bodies: a unique set of lysosome-related organelles.
Frontiers in cell and developmental biologyEpidermal Loss of PRMT5 Leads to the Emergence of an Atypical Basal Keratinocyte-Like Cell Population and Defective Epidermal Stratification.
The Journal of investigative dermatologyNonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
The British journal of dermatologyClinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda.
Case reports in dermatological medicineDefying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon.
Clinical case reportsGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwanese journal of obstetrics & gynecologyPrenatal Ultrasound Diagnosis of Harlequin Ichthyosis.
Journal of obstetrics and gynaecology of IndiaA novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.
Frontiers in pediatricsProtean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.
Clinical and experimental dermatologyHarlequin Ichthyosis Nanobubble Hydrotherapy: A Breakthrough in Treatment.
CureusDevelopment of Neutropenia in an Infant with Harlequin Ichthyosis on Acitretin Therapy: A Clinical Quandary.
SkinmedHair follicles modulate skin barrier function.
Cell reportsCompound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Molecular genetics & genomic medicineCross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology (Basel, Switzerland)Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Experimental dermatologyA fatal case of Harlequin ichthyosis: Experience from low-resource setting.
Narra JRetinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review.
Case reports in dermatological medicineHarlequin ichthyosis, prenatal diagnosis: the ultrasound recognition.
BMJ case reportsCongenital ichthyosis presentation and outcome - A case series.
Journal of family medicine and primary careNovel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.
Annals of dermatologyPrenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)Ophthalmic Review on Neonatal Harlequin Ichthyosis.
CureusPartial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
International journal of molecular sciencesPatients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.
The Journal of dermatologyA Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area.
CureusLong-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.
International journal of dermatologyPrenatal diagnosis of a fetal harlequin ichthyosis.
Archives of gynecology and obstetricsTwo- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.
Anais brasileiros de dermatologiaAssessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis.
CureusMutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
GenesCase Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing.
Frontiers in pediatricsBirth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.
The British journal of dermatologyHarlequin ichthyosis newborn: A case report.
SAGE open medical case reportsHarlequin ichthyosis: A case report and literature review.
Clinical case reportsAn Update and Report Failure of Surgical Syndactyly Repair in Harlequin Ichthyosis.
Plastic and reconstructive surgery. Global openHarlequin ichthyosis: A case image from Syria.
Clinical case reportsManagement of Harlequin Ichthyosis: A Brief Review of the Recent Literature.
Children (Basel, Switzerland)Recalcitrant erythrodermic ichthyosis with atopic dermatitis successfully treated with Dupilumab in combination with Guselkumab.
Skin health and diseaseHarlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia.
CureusHarlequin fetus: A case report.
Indian journal of pathology & microbiologyDSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.
BMC veterinary researchCase of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation.
The Journal of dermatologyFormation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
Human molecular geneticsVitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.
Acta dermato-venereologicaAnesthetic Management of a Patient with Harlequin Ichthyosis.
Case reports in anesthesiologyProgressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.
JAAD case reportsHigh rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.
Journal of the European Academy of Dermatology and Venereology : JEADVJuvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.
Pediatric rheumatology online journalIchthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.
BMC medical genomicsGuards! Guards! How innate lymphoid cells ensure local law and order.
Biomedical journalThe Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Acta dermato-venereologicaEarly escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis.
Biomedical journalMolecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Experimental dermatologyPrenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.
BMC medical imagingPrenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.
Annals of translational medicineCase Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.
Frontiers in geneticsMeta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
GenesEctropion surgery might not be a long-term solution for harlequin ichthyosis.
Dermatologic therapyTopical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis.
Cell reports. MedicineHarlequin ichthyosis: A case report of severe presentation in Eritrea.
Clinical case reportsHarlequin ichthyosis from birth to 12 years.
BMJ case reportsHarlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
The Journal of clinical investigationJuvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.
Italian journal of pediatricsDysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy.
Journal of dermatological sciencePrenatal diagnosis of harlequin ichthyosis: a case report.
Obstetrics & gynecology sciencePrenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.
The Indian journal of radiology & imagingDysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.
PLoS genetics[Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIncreased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.
Pediatric dermatologyManagement of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAn ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.
Animal geneticsHarlequin fetus born from Consanguinity: A deleterious case report.
Pakistan journal of medical sciencesSurgical Management of Harlequin Ichthyosis.
Plastic and reconstructive surgery. Global openRecessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.
The British journal of dermatologyHarlequin Ichthyosis: A Rare Case of Congenital Ichthyosis.
Journal of obstetrics and gynaecology of IndiaA novel pig model capturing clinical symptoms of harlequin ichthyosis.
Journal of molecular cell biologyCongenital heart disease in harlequin ichthyosis: Case series.
Journal of family medicine and primary careA harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.
Journal of molecular cell biologyA novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Molecular genetics & genomic medicineABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.
Pediatric dermatologyTwo successive cases of fetal harlequin ichthyosis: A case report.
Experimental and therapeutic medicineIchthyosis Congenita, Harlequin Type: A Fatal Case Report.
CureusPrenatal sonographic diagnosis of Harlequin ichthyosis.
Journal of clinical ultrasound : JCUResults of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.
Journal of the American Academy of DermatologyCross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup.
Journal of dermatological science[Harlequin ichthyosis with a diaphragmatic hernia and a new mutation].
Ugeskrift for laegerAn atypical presentation of herpes simplex virus infection in Harlequin ichthyosis.
Pediatric dermatologyPrenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.
Taiwanese journal of obstetrics & gynecologyA Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis.
The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAGOsteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis.
JAMA dermatologySurgical management of the hand manifestations of Harlequin ichthyosis.
ANZ journal of surgeryHarlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.
International journal of dermatologyHarlequin Ichthyosis - A Case Report.
Irish medical journalCompound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.
BMJ case reportsHarlequin ichthyosis: A rare case.
Turkish journal of obstetrics and gynecologyBiallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
The Journal of investigative dermatologyA profile of lipid dysregulation in harlequin ichthyosis.
The British journal of dermatologyCase of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.
The Journal of dermatologyImproved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
PediatricsCalpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
The Journal of investigative dermatologyDefects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
PloS oneA case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications.
JAAD case reportsCongenital Ichthyosis - Collodion Baby Case Report.
Journal of clinical and diagnostic research : JCDRHarlequin Ichthyosis: A Surgical Perspective.
Pediatric dermatologyHarlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.
Clinical and experimental dermatologyGeneralized morphea in a child with harlequin ichthyosis: a rare association.
Revista brasileira de reumatologiaCover image: Unpeeling the layers of harlequin ichthyosis.
The British journal of dermatologySpectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
Acta dermato-venereologicaInherited ichthyosis: Non-syndromic forms.
The Journal of dermatologyFacial features in Harlequin ichthyosis: Clinical findings about 4 cases.
Revue de stomatologie, de chirurgie maxillo-faciale et de chirurgie oraleHarlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis.
Journal of clinical and diagnostic research : JCDRApparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.
Journal of dermatological scienceNoteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations.
The British journal of dermatologyCollodion Baby with TGM1 gene mutation.
International medical case reports journalHarlequin Infant Born to a Varicella Infected Mother: A Case Report.
Fetal and pediatric pathologyHarlequin ichthyosis: The third babies with harlequin ichthyosis in a family.
Turk pediatri arsivi[Skin morphology in congenital ichthyosis (Harlequin fetus)].
Arkhiv patologiiUpdate on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
Journal of dermatological scienceTreatment of Harlequin Ichthyosis With Acitretin.
Actas dermo-sifiliograficasEpidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
Pediatrics international : official journal of the Japan Pediatric Society[Interdisciplinary care of newborns with epidermolysis bullosa and severe congenital ichthyoses].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteA novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
Clinical and experimental dermatologyObstetric anesthesia for harlequin ichthyosis: a unique challenge.
A & A case reportsCellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses.
JAMA dermatologyA novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.
Clinical dysmorphologyAssociações
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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.
- Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis.
- Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis.
- Skin lamellar bodies: a unique set of lysosome-related organelles.
- [Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene].Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· 2025· PMID 41645370mais citado
- Harlequin Ichthyosis in a Preterm Neonate: A Case Report.
- Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis.
- Epidemiology and Clinical Characteristics of Harlequin Ichthyosis: A Systematic Review and Meta-Analysis of Case Reports.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:457(Orphanet)
- OMIM OMIM:242500(OMIM)
- MONDO:0009443(MONDO)
- Ictiose Hereditaria(PCDT · Ministério da Saúde)
- GARD:6568(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q266421(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
