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Síndrome de pili torti-onicodisplasia
ORPHA:2890CID-10 · Q82.4CID-11 · LD27.0YDOENÇA RARA

A tortionicodisplasia de Pili é uma forma de displasia ectodérmica caracterizada por distrofia da parte distal das unhas e tricodisplasia. Foi descrito em apenas uma família. A transmissão é autossômica recessiva.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A tortionicodisplasia de Pili é uma forma de displasia ectodérmica caracterizada por distrofia da parte distal das unhas e tricodisplasia. Foi descrito em apenas uma família. A transmissão é autossômica recessiva.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 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
Casos conhecidos
1
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.4
🇧🇷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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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
7 sintomas
🦴
Ossos e articulações
3 sintomas
👁️
Olhos
3 sintomas
😀
Face
2 sintomas
💪
Músculos
2 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

100%prev.
Displasia ectodérmica
55%prev.
Morfologia anormal da orelha externa
Frequente (79-30%)
55%prev.
Tricodisplasia
Frequente (79-30%)
55%prev.
Alopecia
Frequente (79-30%)
55%prev.
Cílios ausentes
Frequente (79-30%)
55%prev.
Cabelo quebradiço
Frequente (79-30%)
20sintomas
Muito frequente (1)
Frequente (18)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Displasia ectodérmicaEctodermal dysplasia
Muito frequente100%
Morfologia anormal da orelha externaAbnormal pinna morphology
Frequente (79-30%)55%
TricodisplasiaTrichodysplasia
Frequente (79-30%)55%
Alopecia
Frequente (79-30%)55%
Cílios ausentesAbsent eyelashes
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos97publicações
Pico201913 papers
Linha do tempo
2026Hoje · 2026📈 2019Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de pili torti-onicodisplasia

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Follicular Becker's Nevus: Clinical, Dermoscopic and Histopathological Description of Two Cases and Literature Review.

Journal of cutaneous pathology2026 Mar

Follicular Becker's nevus (FBN) is a rare variant of Becker's nevus defined by perifollicular pigmentation and folliculocentric distribution. We report two new cases in Caucasian women, aged 22 and 37, with lesions on the breast and lumbar regions. Both presented progressive, asymptomatic hyperpigmented macules since adolescence. Dermoscopy revealed donut-shaped perifollicular structures with hypopigmented halos surrounded by a reticulated brown network, while histopathology confirmed orthohyperkeratosis, basal pigmentation, elongated rete ridges, and hypertrophic arrector pili muscle bundles. In addition, we reviewed all published FBN cases, highlighting its distinct folliculocentric pattern, predilection for non-scapular sites, and occurrence beyond Asian cohorts. Both of our patients showed favorable outcomes with picosecond laser therapy, suggesting this approach as a promising treatment option.

#2

GLUT1DS: focus on motor profile.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2025 Nov

Glucose Transporter Type 1 Syndrome (GLUT1DS) is a rare neurometabolic disease caused by mutations in the SLC2A1 gene, that limits the transport of glucose across the blood-brain barrier. Epilepsy, intellectual disability, movement disorders and coordination disorder are common characteristics found in the syndrome. This study aims to describe the motor profile in a cohort of patients with GLUT1DS throughout the administration of Movement Assessment Battery for Children version 2 (MABC-2). The MABC-2 test was assessed in 31 patients with GLUT1DS. Our sample performed in the clinical range across all the subscales and summary scores of the MABC-2 Test demonstrated an impaired motor performance. Despite the use of use of MABC-2 scores in adults despite age-related norms, and the potential influence of cognitive impairments on task comprehension and performance, which may affect the interpretation of motor outcomes we observed that patients with more complex and severe clinical pictures are those with major motor impairment. The high percentage of impaired performances in motor functioning observed in our population may have significant implications in terms of their long-term health and well being. Early identification of patient with GLUT1DS at risk of motor impairment is crucial to activate interventions to support cognitive, social and emotional development of the patient.

#3

Transcriptomic profiling reveals RetS-mediated regulation of type VI secretion system and host cell responses in Pseudomonas aeruginosa infections.

Frontiers in cellular and infection microbiology2025

Pseudomonas aeruginosa is a major opportunistic pathogen that causes chronic infections, particularly in patients with cystic fibrosis and chronic obstructive pulmonary disease (COPD). The type VI secretion system (T6SS) is a primary virulence factor of P. aeruginosa in chronic infections. The objective of this study was to elucidate the regulatory mechanisms and pathogenic effects of the T6SS during P. aeruginosa infection, utilizing transcriptome sequencing and functional assays. We found that T6SS expression is elevated in P. aeruginosa isolated from chronically infected patients. Deletion of the retS gene activates P. aeruginosa PAO1 T6SS while repressing T3SS in vitro. Bacterial and cellular transcriptome sequencing analyses showed that T6SS genes were upregulated, while T3SS genes were downregulated in the ΔretS mutant. Additionally, the expression levels of the fimbriae gene cupC, the histidine phosphotransfer protein hptC (PA0033), and the transcription factor PA0034 were significantly increased. Subsequent experiments revealed that adhesion mediated by cupC enhances the contact-killing activity of the T6SS. Deletion of the hptC-PA0034 operon results in the down-regulation of cupC expression. The ΔretSΔcupC and ΔretSΔhptC-PA0034 mutants exhibited reduced cytotoxicity compared to the ΔretS mutant, similar to the ΔretSΔclpV1ΔclpV2 mutant. The ΔretS infection increased cell death, inflammatory factors (IL-1β, IL-6, TNF-α), and reactive oxygen species compared to a T6SS-inactive strain. Importantly, our study demonstrates that the T6SS activates the PDE4C pathway in epithelial cells, leading to significant cellular alterations. The application of PDE inhibitors effectively mitigates cell damage and inflammatory responses. These findings highlight the critical role of T6SS in modulating host cell signaling and suggest potential therapeutic strategies for conditions associated with T6SS-mediated inflammation.

#4

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

International journal of molecular sciences2025 Apr 12

The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe2S2 iron-sulfur Rieske protein into the nascent electron transfer complex III. Variants in the BCS1L gene are associated with a spectrum of mitochondrial disorders, ranging from mild to severe phenotypes. Björnstad syndrome, a milder condition, is characterized by sensorineural hearing loss (SNHL) and pili torti. More severe disorders include Complex III Deficiency, which leads to neuromuscular and metabolic dysfunctions with multi-systemic issues and Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, and Lactic Acidosis syndrome (GRACILE). The severity of these conditions varies depending on the specific BCS1L mutation and its impact on mitochondrial function. This study describes a 27-month-old child with SNHL, proximal renal tubular acidosis, woolly hypopigmented hair, developmental delay, and metabolic alterations. Genetic analysis revealed a homozygous BCS1L variant (c.38A>G, p.Asn13Ser), previously reported in a patient with a more severe phenotype that, however, was not functionally characterized. In this work, functional studies in a yeast model and patient-derived fibroblasts demonstrated that the variant impairs mitochondrial respiration, complex III activity (CIII), and also alters mitochondrial morphology in affected fibroblasts. Interestingly, we unveil a new possible mechanism of pathogenicity for BCS1L mutant protein. Since the interaction between BCS1L and CIII is increased, this suggests the formation of a BCS1L-containing nonfunctional preCIII unable to load RISP protein and complete CIII assembly. These findings support the pathogenicity of the BCS1L c.38A>G variant, suggesting altered interaction between the mutant BCS1L and CIII.

#5

Pathophysiological Significance of α-Synuclein in Sympathetic Nerves: In Vivo Observations.

Neurology2025 Feb 11

Lewy body diseases (LBDs) such as Parkinson disease (PD) feature increased deposition of α-synuclein (α-syn) in cutaneous sympathetic noradrenergic nerves. The pathophysiologic significance of sympathetic intraneuronal α-syn is unclear. We reviewed data about immunoreactive α-syn, tyrosine hydroxylase (TH, a marker of catecholaminergic fibers), and the sympathetic neurotransmitter norepinephrine (NE) in skin biopsies from control participants and patients with PD, the related LBD pure autonomic failure (PAF), the non-LBD synucleinopathy multiple system atrophy (MSA), or neurologic postacute sequelae of severe acute respiratory syndrome coronavirus 2 (neuro-PASC). In a retrospective observational study, we reviewed data about α-syn-TH colocalization indexes and immunoreactive α-syn and TH signal intensities in arrector pili muscles, blood vessels, and sweat glands from neck skin biopsies and NE concentrations in simultaneously obtained thigh skin biopsies from participants studied at the NIH Clinical Center. LBD, MSA, and control group data were assessed by analyses of variance with the Tukey post hoc test for multiple comparisons. Similar analyses were performed for patients with PD or neuro-PASC vs control. Dermal α-syn-TH colocalization indexes and α-syn signal intensities from neck skin biopsies were examined in 18 controls (mean age 58 years, 50% female) and 53 LBD (66, 34%), 15 MSA (61, 33%), and 11 neuro-PASC (52, 82%) patients. The LBD group had higher α-syn-TH colocalization indexes than the controls (mean difference = 1.495, 95% CI 1.081-1.909, p < 0.0001) and increased α-syn signal intensities in all 3 skin constituents (arrector pili: mean difference = 2.743, 95% CI 1.608-3.879, p < 0.0001; blood vessels: mean difference = 2.157, 95% CI 1.095-3.219, p < 0.0001; sweat glands: mean difference = 4.136, 95% CI 1.704-6.567, p < 0.0001). The groups did not differ in either immunoreactive TH or NE. The neuro-PASC and PD groups had elevated α-syn-TH colocalization indexes compared with the controls, also with no group differences in immunoreactive TH or NE contents. LBDs and neuro-PASC entail increased α-syn-TH colocalization indexes in skin biopsies, without evidence of local denervation or noradrenergic deficiency. The results fail to support toxicity of intraneuronal α-syn in cutaneous sympathetic noradrenergic nerves in either LBDs or neuro-PASC. The neuro-PASC data raise the possibility of sympathetic intraneuronal α-syn deposition as part of postinfectious immune or inflammatory processes.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 96

2026

Follicular Becker's Nevus: Clinical, Dermoscopic and Histopathological Description of Two Cases and Literature Review.

Journal of cutaneous pathology
2025

GLUT1DS: focus on motor profile.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Transcriptomic profiling reveals RetS-mediated regulation of type VI secretion system and host cell responses in Pseudomonas aeruginosa infections.

Frontiers in cellular and infection microbiology
2025

Enteropathogenic Escherichia coli revisited - New insights into old EPEC isolates using whole genome sequencing.

International journal of medical microbiology : IJMM
2025

Molecular Characterization of a Rare ESBL E. coli Strain Causing a Necrotizing Enterocolitis Outbreak in Preterm Infants.

The Pediatric infectious disease journal
2025

Multiple Cutaneous Leiomyomas of the Shoulder: Investigating Chronic Pain and Reed's Syndrome Association.

Cureus
2025

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

International journal of molecular sciences
2025

Virtual Reality as a Tool for Upper Limb Rehabilitation in Rett Syndrome: Reducing Stereotypies and Improving Motor Skills.

Pediatric reports
2025

Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity.

Clinical, cosmetic and investigational dermatology
2025

Pathophysiological Significance of α-Synuclein in Sympathetic Nerves: In Vivo Observations.

Neurology
2025

Videodermoscopy as a Diagnostic Tool for Pili Trianguli and Canaliculi Syndrome.

Pediatric dermatology
2024

Nonmodifiable Risk Factors Predict Outcomes in Brugada Syndrome.

Journal of the American College of Cardiology
2024

Dermoscopic Features of Pili Annulati: Features of PA.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2024

Takotsubo syndrome in a Sardinian amyotrophic lateral sclerosis cohort.

Journal of neurology
2024

Forecasting potential invaders to prevent future biological invasions worldwide.

Global change biology
2024

Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.

Pediatric dermatology
2024

Hair Evaluation in Orthodontic Patients with Oligodontia.

Diagnostics (Basel, Switzerland)
2023

Hereditary Leiomyomatosis and Renal Cell Cancer: A Case Report of Pilar Leiomyomatosis with History of Kidney Cancer and Review of the Literature.

Annals of dermatology
2024

Cochlear implantation in Bjornstad syndrome: a case series with literature review.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2023

Compositional and functional aberrance of the gut microbiota in treatment-naïve patients with primary Sjögren's syndrome.

Journal of autoimmunity
2023

Amuc attenuates high-fat diet-induced metabolic disorders linked to the regulation of fatty acid metabolism, bile acid metabolism, and the gut microbiota in mice.

International journal of biological macromolecules
2023

Overall Survival and Updated Results for Sunitinib Compared With Interferon Alfa in Patients With Metastatic Renal Cell Carcinoma.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2022

Family and Caregiver Characteristics Contribute to Caregiver Change in Use of Strategies and Growth in Child Spoken Language in a Parent-Implemented Language Intervention in Fragile X Syndrome.

Perspectives of the ASHA special interest groups
2022

Evaluation of hair structural abnormalities in children with different neurological diseases.

The Turkish journal of pediatrics
2023

Post-intubation laryngeal injury after COVID-19 treatment causing dyspnea: A report of six cases.

Auris, nasus, larynx
2022

Compositional and functional aberrance of the gut microbiota in treatment naïve patients with primary Sjögren's syndrome.

Journal of autoimmunity
2022

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

Genes
2022

Diabetes Affects Antibody Response to SARS-CoV-2 Vaccination in Older Residents of Long-term Care Facilities: Data From the GeroCovid Vax Study.

Diabetes care
2022

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

Nephrology (Carlton, Vic.)
2022

Characterization of enterohemorrhagic Escherichia coli from diarrhoeic patients with particular reference to production of Shiga-like toxin.

Microbial pathogenesis
2021

Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.

Journal of clinical medicine
2021

Genetics, Structure, and Function of Group A Streptococcal Pili.

Frontiers in microbiology
2020

Leiomyosarcoma of the vulva: a case report.

Przeglad menopauzalny = Menopause review
2021

Multi-segmental postural control patterns in down syndrome.

Clinical biomechanics (Bristol, Avon)
2020

Horizontally acquired papGII-containing pathogenicity islands underlie the emergence of invasive uropathogenic Escherichia coli lineages.

Nature communications
2020

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

Medicine
2021

Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.

Pediatric dermatology
2020

A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Balkan journal of medical genetics : BJMG
2020

Cutaneous Leiomyoma Mimicking a Keloid.

Acta dermatovenerologica Croatica : ADC
2020

Hair cross-sectioning in uncombable hair syndrome: An epoxy embedding technique.

Journal of cutaneous pathology
2021

Visual Dermatology: Menkes Disease.

Journal of cutaneous medicine and surgery
2020

Characterization of native Escherichia coli populations from bovine vagina of healthy heifers and cows with postpartum uterine disease.

PloS one
2020

Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study.

Journal of the American Academy of Dermatology
2020

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.

Journal of neurodevelopmental disorders
2020

Expression and Functional Characterization of Various Chaperon-Usher Fimbriae, Curli Fimbriae, and Type 4 Pili of Enterohemorrhagic Escherichia coli O157:H7 Sakai.

Frontiers in microbiology
2020

Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma.

The Journal of dermatology
2020

Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis.

Pediatric dermatology
2020

Nevus psiloliparus: Newly described histopathological features from transverse sections.

Journal of cutaneous pathology
2019

The autonomic innervation of hairy skin in humans: an in vivo confocal study.

Scientific reports
2019

Association of innervation-adjusted alpha-synuclein in arrector pili muscles with cardiac noradrenergic deficiency in autonomic synucleinopathies.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2019

An unusual pacing artifact.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2019

Large-scale genome analysis of bovine commensal Escherichia coli reveals that bovine-adapted E. coli lineages are serving as evolutionary sources of the emergence of human intestinal pathogenic strains.

Genome research
2019

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Human molecular genetics
2019

QseC Signaling in the Outbreak O104:H4 Escherichia coli Strain Combines Multiple Factors during Infection.

Journal of bacteriology
2019

Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease.

Skin appendage disorders
2019

A 'pathogenic needle' in a 'commensal haystack': Genetic virulence signatures of Corynebacterium glucuronolyticum that may drive its infectious propensity for the male urogenital system.

Medical hypotheses
2019

The potential probiotic Lactobacillus rhamnosus CNCM I-3690 strain protects the intestinal barrier by stimulating both mucus production and cytoprotective response.

Scientific reports
2019

Hazard Identification and Characterization: Criteria for Categorizing Shiga Toxin-Producing Escherichia coli on a Risk Basis†.

Journal of food protection
2019

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.

American journal of medical genetics. Part A
2019

Improving hazard characterization in microbial risk assessment using next generation sequencing data and machine learning: Predicting clinical outcomes in shigatoxigenic Escherichia coli.

International journal of food microbiology
2018

Trichoscopy in Hair Shaft Disorders.

Dermatologic clinics
2018

Characterization of a novel plasmid encoding F4-like fimbriae present in a Shiga-toxin producing enterotoxigenic Escherichia coli isolated during the investigation on a case of hemolytic-uremic syndrome.

International journal of medical microbiology : IJMM
2018

Comparative Transcriptome Profiling Reveals a Potential Role of Type VI Secretion System and Fimbriae in Virulence of Non-O157 Shiga Toxin-Producing Escherichia coli.

Frontiers in microbiology
2018

Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis.

Journal of the American Academy of Dermatology
2018

Cutaneous Smooth Muscle Tumors: A Review.

Advances in anatomic pathology
2018

An ADAM-10 dependent EPCR shedding links meningococcal interaction with endothelial cells to purpura fulminans.

PLoS pathogens
2018

Metformin associated lactic acidosis: a case series of 28 patients treated with sustained low-efficiency dialysis (SLED) and long-term follow-up.

BMC nephrology
2018

Pili torti, pale and elastic skin, and severe neurological impairment.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2018

A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.

International journal of dermatology
2018

Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Multiplex real-time PCR assay for detection of Escherichia coli O157:H7 and screening for non-O157 Shiga toxin-producing E. coli.

BMC microbiology
2017

Patients with a new variant of endemic pemphigus foliaceus have autoantibodies against arrector pili muscle, colocalizing with MYZAP, p0071, desmoplakins 1 and 2 and ARVCF.

Clinical and experimental dermatology
2017

Genome sequencing and comparative genomics of enterohemorrhagic Escherichia coli O145:H25 and O145:H28 reveal distinct evolutionary paths and marked variations in traits associated with virulence & colonization.

BMC microbiology
2018

Xylella fastidiosa: an examination of a re-emerging plant pathogen.

Molecular plant pathology
2017

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

American journal of medical genetics. Part A
2017

A review on strategies for decreasing E. coli O157:H7 risk in animals.

Microbial pathogenesis
2017

THE STRUCTURE OF THE INTESTINAL MICROBIOTA AND THE FREQUENCY OF DETECTION OF PATHOGENICITY GENES (STXI, STX2, BFP) IN ESCHERICHIA COLI WITH NORMAL ENZYMATIC ACTIVITY ISOLATED FROM CHILDREN DURING THE FIRST YEAR OF LIFE.

Molekuliarnaia genetika, mikrobiologiia i virusologiia
2017

Morphological analyses in fragility of pili torti with Björnstad syndrome.

The Journal of dermatology
2016

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

American journal of human genetics
2016

The primary transcriptome of the Escherichia coli O104:H4 pAA plasmid and novel insights into its virulence gene expression and regulation.

Scientific reports
2017

The Group A Streptococcus serotype M2 pilus plays a role in host cell adhesion and immune evasion.

Molecular microbiology
2016

Iliac Artery Aneurysms in Menkes Disease: A Case Report.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet
2016

A secretome view of colonisation factors in Shiga toxin-encoding Escherichia coli (STEC): from enterohaemorrhagic E. coli (EHEC) to related enteropathotypes.

FEMS microbiology letters
2016

Mutation of the toxR or mshA genes from Vibrio coralliilyticus strain OCN014 reduces infection of the coral Acropora cytherea.

Environmental microbiology
2016

The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.

Journal of clinical and diagnostic research : JCDR
2016

Adjuvant sunitinib or sorafenib for high-risk, non-metastatic renal-cell carcinoma (ECOG-ACRIN E2805): a double-blind, placebo-controlled, randomised, phase 3 trial.

Lancet (London, England)
2016

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

American journal of medical genetics. Part C, Seminars in medical genetics
2016

Nailfold capillaroscopic findings in primary Sjögren's syndrome with and without Raynaud's phenomenon and/or positive anti-SSA/Ro and anti-SSB/La antibodies.

Rheumatology international
2015

Two sisters with Reed's syndrome: treatment with pregabalin.

Dermatology online journal
2014

Escherichia coli O104:H4 Pathogenesis: an Enteroaggregative E. coli/Shiga Toxin-Producing E. coli Explosive Cocktail of High Virulence.

Microbiology spectrum
2015

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

The Journal of dermatology
2015

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Gene
2015

Clinical, dermoscopic, and histopathologic features of body hair disorders.

Journal of the American Academy of Dermatology
2015

Impact of virulence genes on sepsis severity and survival in Escherichia coli bacteremia.

Virulence
2015

Global analysis of posttranscriptional regulation by GlmY and GlmZ in enterohemorrhagic Escherichia coli O157:H7.

Infection and immunity
2015

Leiomyoma cutis: a focused review on presentation, management, and association with malignancy.

American journal of clinical dermatology

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Follicular Becker's Nevus: Clinical, Dermoscopic and Histopathological Description of Two Cases and Literature Review.
    Journal of cutaneous pathology· 2026· PMID 41345742mais citado
  2. GLUT1DS: focus on motor profile.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2025· PMID 41129843mais citado
  3. Transcriptomic profiling reveals RetS-mediated regulation of type VI secretion system and host cell responses in Pseudomonas aeruginosa infections.
    Frontiers in cellular and infection microbiology· 2025· PMID 40557319mais citado
  4. Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A&gt;G Variant.
    International journal of molecular sciences· 2025· PMID 40332224mais citado
  5. Pathophysiological Significance of &#x3b1;-Synuclein in Sympathetic Nerves: In Vivo Observations.
    Neurology· 2025· PMID 39805051mais citado
  6. Dual inhibition of complement component 5 and leukotriene B4 by topical rVA576 in atopic keratoconjunctivis: TRACKER phase 1 clinical trial results.
    Orphanet J Rare Dis· 2021· PMID 34116700recente
  7. SARS-CoV-2 infection in a patient with propionic acidemia.
    Orphanet J Rare Dis· 2020· PMID 33115512recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2890(Orphanet)
  2. MONDO:0017321(MONDO)
  3. GARD:4364(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786981(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

Síndrome de pili torti-onicodisplasia
Compêndio · Raras BR

Síndrome de pili torti-onicodisplasia

ORPHA:2890 · MONDO:0017321
Prevalência
<1 / 1 000 000
Casos
1 casos conhecidos
Herança
Autosomal recessive
CID-10
Q82.4 · Displasia ectodérmica (anidrótica)
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931483
Wikidata
DiscussaoAtiva

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