A neuropatia periférica da hipertricose cervical é uma síndrome rara caracterizada pela associação de hipertricose congênita na região cervical anterior com neuropatia periférica sensitiva e motora. Foi descrita em três membros da mesma família e em um menino não aparentado. As características associadas nos casos familiares incluem anomalias da retina, espinha bífida, cifoescoliose e hálux valgo, enquanto no caso não familiar inclui atraso no desenvolvimento. Um modo de herança autossômico recessivo é sugerido. Não houve mais descrições na literatura desde 1993.
Introdução
O que você precisa saber de cara
A neuropatia periférica da hipertricose cervical é uma síndrome rara caracterizada pela associação de hipertricose congênita na região cervical anterior com neuropatia periférica sensitiva e motora. Foi descrita em três membros da mesma família e em um menino não aparentado. As características associadas nos casos familiares incluem anomalias da retina, espinha bífida, cifoescoliose e hálux valgo, enquanto no caso não familiar inclui atraso no desenvolvimento. Um modo de herança autossômico recessivo é sugerido. Não houve mais descrições na literatura desde 1993.
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
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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)
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Pesquisa ativa
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CureusThe Incidence of Double Crush Syndrome in Surgically Treated Patients.
Global spine journalRelationships between the Clinical Test Results and Neurophysiological Findings in Patients with Thoracic Outlet Syndrome.
Bioengineering (Basel, Switzerland)Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.
JAMA network openA case report of unilateral cervical lymphadenopathy and multiple cranial neuropathies following mRNA-COVID-19 vaccination.
BMC neurologyPhotobiomodulation therapy in management of cancer therapy-induced side effects: WALT position paper 2022.
Frontiers in oncologyPostpartum reversible cerebral vasoconstriction with cortical subarachnoid hemorrhage and posterior reversible encephalopathy syndrome concomitant with vertebral artery dissection diagnosed by MRI MSDE method: A case report and review of literature.
Clinical case reportsInternal carotid artery dissection following self-manipulation: A case report.
SAGE open medical case reportsPathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity.
Pathophysiology : the official journal of the International Society for PathophysiologyPalato-Pharyngo-Laryngeal Rhythmic Myoclonus in Neuro-Behcet Syndrome: A Case Report.
The Annals of otology, rhinology, and laryngologyVaricella zoster-associated progressive lower cranial and upper cervical polyneuropathy: a case report.
Journal of medical case reportsAcute Bulbar Palsy-Plus Variant of Guillain-Barré Syndrome in a 3-Year-Old Girl.
Child neurology openPhenotypic Characterization of Laryngospasm: The Utility of Laryngeal Neurophysiological Studies.
Journal of voice : official journal of the Voice FoundationSeropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum.
Qatar medical journalExpanding the phenotype of DNAJC30-associated Leigh syndrome.
Clinical geneticsReduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
NeurogeneticsLemierre syndrome associated mycotic cavernous sinus thrombosis and carotid aneurysm after COVID-19.
American journal of ophthalmology case reportsPectoralis minor syndrome - review of pathoanatomy, diagnosis, and management of the primary cause of neurogenic thoracic outlet syndrome.
JSES reviews, reports, and techniquesNodopathies in the Early Diagnosis of Axonal Forms of Guillain-Barré Syndrome.
Frontiers in neurologyParsonage-Turner Syndrome mimicking musculoskeletal shoulder pain: A case report during the SARS-CoV-2 pandemic era.
Journal of telemedicine and telecareRarest of the rare: a case of pharyngeal-cervical-brachial variant of Guillain-Barré syndrome presenting with a demyelinating neuropathy.
The International journal of neuroscienceHistopathological evidence that diethylene glycol produces kidney and nervous system damage in rats.
NeurotoxicologyAcute nitrous oxide-induced neuropathy mimicking Guillain-Barré syndrome.
Journal of the peripheral nervous system : JPNSMutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Science advancesCraniocervical Artery Dissections: A Concise Review for Clinicians.
Mayo Clinic proceedingsPost-acute sensory neurological sequelae in patients with severe acute respiratory syndrome coronavirus 2 infection: the COVID-PN observational cohort study.
PainPharmacogenomics of cisplatin-induced neurotoxicities: Hearing loss, tinnitus, and peripheral sensory neuropathy.
Cancer medicineRenal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease.
NephronCLINICAL AND NEUROPHYSIOLOGICAL PARALLELS OF THE BRACHIAL PLEXOPATHY IN THE STRUCTURE OF NEUROGENIC THORACIC OUTLET SYNDROME.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Case Report: Initial Evidence of Safety and Efficacy of High Definition-Transcranial Direct Current Stimulation in a Patient With Neuropathic Pain and Implanted Spinal Cord Stimulator.
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CureusA Rare Cause of Forearm Pain: Two Cases with Pronator Teres Syndrome.
Pain medicine case reportsTRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
Annals of clinical and translational neurologyMyelin oligodendrocyte glycoprotein antibody-associated optic neuritis: an update.
Arquivos brasileiros de oftalmologiaScalp dysesthesia: a neuropathic phenomenon.
Journal of the European Academy of Dermatology and Venereology : JEADVEagle syndrome presenting as anterior ischaemic neuropathy: a multidisciplinary approach.
BMJ case reportsSequelae and Comorbidities of COVID-19 Manifestations on the Cardiac and the Vascular Systems.
Frontiers in physiologyA Case of Sjögren's Syndrome Associated With Trigeminal Neuropathy and Enhancement of the Mandibular Nerve at the Foramen Ovale: A Case Report and a Review of the Differential Diagnosis and Mechanisms of the Disease.
CureusOptic neuropathy after COVID-19 vaccination: a report of two cases.
The International journal of neuroscienceA Correlation between Upper Extremity Compressive Neuropathy and Nerve Compression Headache.
Plastic and reconstructive surgeryPharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome.
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Physical medicine and rehabilitation clinics of North AmericaAssociation of Economic Well-Being With Comorbid Conditions in Patients Undergoing Carpal Tunnel Release.
The Journal of hand surgeryAuditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.
Frontiers in cell and developmental biologyPharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome in a Patient of COVID-19 Infection.
CureusAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report.
- Impact of Cervical Radiculopathy on the Risk of Cubital Tunnel Syndrome Following Distal Humerus Fracture: A Retrospective Cohort Analysis of 165 Million Patients.
- Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.
- Ultrasound imaging of the spinal accessory nerve in the neck.
- Misdiagnosis of superior sulcus tumours: a scoping review.
- Diffuse neurofibroma with hypertrichosis in a toddler.
- Case of pigmented neurofibroma with hypertrichosis with no association to neurofibromatosis.
- Glomeruloid hemangioma.
- Glomeruloid haemangioma with cerebriform morphology in a patient with POEMS syndrome.
- Pigmented (melanotic) neurofibroma: a clinicopathologic and immunohistochemical analysis of 19 lesions from 17 patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2218(Orphanet)
- OMIM OMIM:239840(OMIM)
- MONDO:0009405(MONDO)
- GARD:1226(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781964(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
