Forma grave de craniossinostose sindrômica, caracterizada por um grau variável de craniossinostose, com crânio em folha de trevo relatado em mais de 50% dos casos, cutis gyrata, estrias lineares semelhantes a veludo cotelê na pele, acantose nigricans, marcas na pele e estenose ou atresia coanal. Características adicionais incluem características faciais semelhantes à doença de Crouzon, defeitos auditivos (perda auditiva condutiva, orelhas anguladas posteriormente, canais auditivos estenóticos, sulcos pré-auriculares e canais auditivos estreitos), hirsutismo, coto umbilical proeminente e anomalias genitorurinárias (ânus colocado anteriormente, lábios hipoplásicos, hipospádia). A BSS está associada a um desfecho desfavorável, pois os pacientes apresentam risco elevado de morte súbita no primeiro ano de vida. Atraso significativo no desenvolvimento e deficiência intelectual são observados na maioria dos pacientes que sobrevivem à infância.
Introdução
O que você precisa saber de cara
Forma grave de craniossinostose sindrômica, caracterizada por um grau variável de craniossinostose, com crânio em folha de trevo relatado em mais de 50% dos casos, cutis gyrata, estrias lineares semelhantes a veludo cotelê na pele, acantose nigricans, marcas na pele e estenose ou atresia coanal. Características adicionais incluem características faciais semelhantes à doença de Crouzon, defeitos auditivos (perda auditiva condutiva, orelhas anguladas posteriormente, canais auditivos estenóticos, sulcos pré-auriculares e canais auditivos estreitos), hirsutismo, coto umbilical proeminente e anomalias genitorurinárias (ânus colocado anteriormente, lábios hipoplásicos, hipospádia). A BSS está associada a um desfecho desfavorável, pois os pacientes apresentam risco elevado de morte súbita no primeiro ano de vida. Atraso significativo no desenvolvimento e deficiência intelectual são observados na maioria dos pacientes que sobrevivem à infância.
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
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 76 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 dominant.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is
Cell membraneGolgi apparatusCytoplasmic vesicleSecreted
Crouzon syndrome
An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
Variantes genéticas (ClinVar)
308 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
17 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 — Síndrome de cutis gyrata-acantose nigricans-craniossinostose
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.
Publicações mais relevantes
Epidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.
Lumpy skin disease (LSD) threatens cattle health and productivity in Ivory Coast, where limited resources for livestock management hinder disease control. Moreover, the lack of studies on its prevalence and genetic profile leaves critical gaps in understanding its epidemiology and local risk factors. This study addresses these gaps by investigating LSD viruses' prevalence, its molecular characteristic and the associated risk factors among cattle in the Poro Region of northern Ivory Coast. Using a cross-sectional design, nodule and nasal swab samples were collected from 405 cattle across 36 villages between September 2023 and December 2024 based on syndromic surveillance. The samples were analyzed PCR to confirm LSD virus presence, followed by sequencing of four viral genes: RPO30, GPCR, EEV glycoprotein, and B22R. Overall, LSD prevalence among cattle showing pox-like lesions and clinical symptoms was found to be 51.85% and varied significantly across localities, reaching 66.67% in M'bengué and 70.87% in Dikodougou. Larger herds (over 50 cattle) had a higher prevalence (76.51%) compared to smaller herds (34.72%), and transhumant herds showed increased prevalence (p < 0.001). No significant associations were identified between sex, age, or breed. Phylogenetic analysis indicated that the Ivory Coast LSDV strains clusters with other African field strains, distinct from South-East Asian and Russian recombinants. The present study shows a notable regional difference in the prevalence of LSD in cattle in Ivory Coast, with big and transhumant herds having a higher prevalence rate making the herd size and movement a major risk factor. Molecular analysis demonstrated that Ivory Coast LSD strains are in the same group with other strains found in the African field, indicating that it is necessary to take control measures within the region and provide further surveillance.
IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
We identified a new progeroid syndrome with severe neuropathy and intellectual deficits but its underlying cellular and molecular mechanism is unknown. Exome sequencing revealed a homozygous mutation in the IVNS1ABP gene, which encodes IVNS1ABP, an influenza virus non-structural protein-1 binding protein. To investigate disease mechanisms, we generated isogenic induced pluripotent stem cells (iPSCs) from patient fibroblasts and differentiated them into neural progenitor cells (NPCs). Mutant IVNS1ABP fibroblasts, iPSCs, and NPCs exhibited defective cytokinesis, increased DNA damage, and premature cellular senescence. Consistent with these findings, cerebral organoids showed early differentiation of NPCs into neurons. Molecular profiling as well as biochemical and cellular analysis revealed altered binding of mutant IVNS1ABP to actin / actin-associated proteins and dysregulated actin dynamics during cytokinesis. Taken together, we propose that mutant IVNS1ABP dysregulates actin polymerization and organization which is at least partly responsible for the cellular senescence phenotypes in this progeroid neuropathy.
Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
Psoriasis is a common immune-mediated skin disease influenced by environmental and dietary factors. In traditional Chinese medicine (TCM), endogenous dampness-heat syndrome, often induced by diets rich in stimulating foods, is considered a trigger that aggravates psoriasis. However, the underlying mechanisms remain unclear. This study investigated the gut microbiota and metabolic alterations associated with endogenous dampness-heat syndrome in psoriasis. BALB/c mice were fed a stimulating food diet to establish a model of endogenous dampness-heat syndrome, followed by the induction of psoriasis-like dermatitis by applying imiquimod. Mice on a standard diet served as disease controls and healthy controls. Characteristics of the gut microbiota were analyzed by 16S rDNA sequencing. UPLC-MS/MS was used to detect metabolic changes in the feces and serum of mice and to quantify multiple bile acids. Lipid accumulation and bile acid content in the liver were evaluated by Oil Red O staining and total bile acid assays. Endogenous dampness-heat modeling aggravated psoriasis-like symptoms in mice. This was accompanied by marked dysbiosis of the gut microbiota, characterized by reduced abundance of Lactobacillus and Bacteroides. Serum and fecal metabolomics revealed prominent alterations in bile acid metabolism, closely associated with the reduction in Lactobacillus. Targeted quantification confirmed elevated deoxycholic acid in serum, together with increased total bile acids and lipid deposition in the liver. The expression of FXR in bile acid pathway in the liver was decreased, while the expression of CYP7A1 was increased. The exacerbation of skin lesions and hepatic lipid deposition in endogenous dampness-heat pattern psoriasis may be associated with bile acid imbalance and reduced Lactobacillus levels.
Targeted neurological screening for RFC1-related disease in unexplained chronic cough.
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is caused by biallelic pathogenic repeat expansions in the RFC1 gene. Chronic cough can precede the neurological features of CANVAS by decades and, in some instances, may be the sole clinical manifestation. However, the prevalence of biallelic RFC1 repeat expansions among patients with unexplained chronic cough (UCC), as well as the diagnostic utility of targeted neurological screening in this setting, remains unclear. In this 6-month pilot study, 13 consecutive patients with UCC underwent a standardized neurological evaluation and screening nerve conduction studies (NCS) during a single clinical visit. All patients were subsequently tested for RFC1 repeat expansions. Those carrying biallelic pathogenic expansions (RFC1+) were further assessed with extended NCS, electrochemical skin conductance (ESC), and thermal quantitative sensory testing (QST). Three patients (23%) were RFC1+. Clinical and demographic features did not significantly differ between RFC1+ and RFC1- groups. All RFC1+ individuals exhibited marked bilateral reduction in radial and sural sensory nerve action potential (SNAP) amplitudes. In contrast, only two RFC1- patients showed reduced sural SNAPs. QST revealed impaired cold detection thresholds with preserved warm detection in all RFC1+ cases, while ESC results were normal. These findings suggest that standardized neurological and electrophysiological assessment can detect subclinical sensory neuropathy in UCC patients lacking overt neurological symptoms, thereby identifying those more likely to carry RFC1 expansions. The observed 23% prevalence supports incorporating RFC1 testing into the diagnostic approach for selected UCC patients, particularly when radial SNAP amplitudes are reduced.
Tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.
Publicações recentes
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Safety of Concurrent Systemic Therapy and Total Skin Electron Therapy in Cutaneous T-Cell Lymphoma.
Clinical lymphoma, myeloma & leukemiaRenal-Limited Cryofibrinogen-Associated Glomerulonephritis Diagnosed Using Electron Microscopy.
Nephrology (Carlton, Vic.)Front-line systemic treatment outcomes in POEMS syndrome.
British journal of haematologyGrowth Guidance Surgery: Factors Associated With Complications.
SpineMucus Fishing Syndrome: Case Series and a Narrative Review of Literature.
Ophthalmology and therapyMyeloid dermatosis with features of sweet syndrome and leukemia cutis: a case report.
Annals of hematologyChronic inhalation exposure to 0.5 ppm of 2-ethyl-1-hexanol induces histopathological changes in olfactory, respiratory, and skin tissue of mice.
Journal of occupational healthWhen Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.
CureusChemotherapy and the Skin: Understanding Dermatologic Side Effects.
CureusAtypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.
CureusClinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.
Advanced biomedical researchEpidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.
Frontiers in veterinary scienceIncreased Risk of Melanoma and Basal Cell Carcinoma in Patients with Sjogren's Syndrome: A Nested Case-Control Study.
Archives of dermatological researchCraniospinal cerebrospinal fluid volume changes after extreme bilateral frontotemporoparietal craniectomy and cranioplasty: a volumetric magnetic resonance imaging case report.
Croatian medical journalTetrahedral framework nucleic acid delivery of emodin enables precision antibacterial and anti-inflammatory therapy for drug-resistant Staphylococcus aureus.
Journal of nanobiotechnologyA practical clinical approach to the diagnosis and management of morphea (localized scleroderma).
Best practice & research. Clinical rheumatologyThe pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.
The American journal of pathologyGenotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
Annales d'endocrinologieDeployment of an Activity Monitoring Program to Complement a Clinical Intervention for Veterans With Gulf War Illness: Qualitative Study.
JMIR human factorsA Rash Decision: Mycoplasma-Induced Mucositis in a Young Adult.
CureusBody Under Attack: Disseminated Varicella-Zoster Virus Infection.
CureusMogamulizumab-associated lymphadenopathy masquerading as lymphoma progression.
JAAD case reportsEfficacy and safety of a new cladribine-based conditioning regimen for allogeneic hematopoietic stem cell transplantation in children with relapsed or refractory acute myeloid leukemia.
Frontiers in medicineCase Report: Fatal Streptococcus pyogenes infection secondary to closed femoral fracture.
Frontiers in medicineBlau syndrome with atrophoderma vermiculata-like appearance: a case report.
Frontiers in immunologyA laboratory micro-CT technique is useful to visualize and characterize dermal skin components in a 3D manner.
Experimental and therapeutic medicineSecukinumab-Induced Delayed Behçet-Like Reaction in a Patient with Plaque Psoriasis: A Case Report.
Clinical, cosmetic and investigational dermatologyIVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
Nature communicationsArtificial Intelligence-Based Diagnosis of Kaposi Sarcoma Using Digital Photographs in Dark-Skinned Patients in Uganda.
JCO global oncologyFatal refractory chronic active Epstein-Barr virus infection with hemophagocytic lymphohistiocytosis and NK/T-cell lymphoma: a case report.
ASM case reportsA Decade-Long Journey of Steroid-Dependent IgA Nephropathy with Minimal Change Disease from Immunosuppressants to Rituximab and then to Obinutuzumab: A Case Report.
Case reports in nephrology and dialysisEffectiveness of Custom-Made Mouthpieces in the Prevention of Diver's Mouth Syndrome (DMS).
European journal of dentistryNonconventional MYC-Positive Primary Cutaneous Angiosarcoma: Novel or Untested.
The American Journal of dermatopathologyCheckerboard Hyperkeratosis With Apoptotic Keratinocytes as Features of Mechanic's Hands and Review of the Literature.
The American Journal of dermatopathologyImplications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.
Annals of plastic surgeryDiet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
Frontiers in cellular and infection microbiologyOritavancin as rescue therapy in severe methicillin-resistant Staphylococcus aureus pneumonia: A case report.
Respiratory medicine case reportsAutologous fat grafting in a case of Parry-Romberg syndrome: a case report.
Case reports in plastic surgery & hand surgerySintilimab-induced toxic epidermal necrolysis complicated in advanced gastric cancer: a case report and literature review.
Frontiers in immunologyA Study of Cutaneous Manifestations in Patients During the Post-COVID Period in A Tertiary Care Center.
Journal of pharmacy & bioallied sciencesThree Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.
CureusPrevention of Pressure Injuries During Nasal Continuous Positive Airway Pressure in Newborns: A Non-pharmacological Intervention Trial.
Nursing in critical careTargeted neurological screening for RFC1-related disease in unexplained chronic cough.
Journal of neurologyUtility of the Early Sjögren Antibody Panel as a Diagnostic Marker for Sensory Neuropathy.
Muscle & nerve[Tongdu Jieyu acupuncture combined with local surrounding needling for 34 cases of melasma with liver qi stagnation].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionCase Report: Morphologically striking eruptive xanthomas with lobulated papules: a sentinel sign of severe metabolic dysregulation.
Frontiers in endocrinologyMuir-Torre Syndrome: A Rare Case Report and Review of Literature.
Clinical, cosmetic and investigational dermatologyClinical Insights into the Pathogenesis and Treatment Strategies of Acanthosis Nigricans: A Bibliometric Study of Current Trends and Future Directions.
Clinical, cosmetic and investigational dermatologyEccrine Syringofibroadenoma: A Rare Case of Benign Appendageal Tumor.
CureusTherapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.
American journal of medical genetics. Part C, Seminars in medical geneticsImplications of Glomus Tumor Pathology and Pain Mechanism for Surgical Treatment.
Annali italiani di chirurgiaAn Unusual Presentation of Nicolau Syndrome in the Upper Limb: A Case Report from Northern Ecuadorian Amazonia.
Journal of clinical medicine[Fungal food allergy syndrome: A rare cause of anaphylaxis].
Revue des maladies respiratoiresThe impact of peripheral nerve injuries on burn outcomes from the Burn Care Quality Platform.
Burns : journal of the International Society for Burn InjuriesIn which step should abdominal wall skin incision be made in percutaneous endoscopic gastrostomy procedure?: A retrospective comparative study.
MedicineSoft Tissue Reconstruction With Synthetic Electrospun Fiber Matrix Following Musculoskeletal Injury: A Retrospective Case Series.
EplastySuccessful Treatment of Cutaneous Squamous Cell Carcinoma Complicated by Myelodysplastic Syndrome Using Combined ALA-PDT and Narrow-Margin Excision: A Case Report.
Clinical case reportsThe Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.
Psychopharmacology bulletinEfficacy and safety of Dysmenorrhea Patch acupoint application in women with primary dysmenorrhea: a randomized double-blind controlled trial.
Frontiers in endocrinologyCutaneous T-cell lymphomas and dupilumab for atopic dermatitis: A systematic review and expert consensus.
Journal of the European Academy of Dermatology and Venereology : JEADVDisseminated iatrogenic upper gastrointestinal Kaposi sarcoma following prolonged steroid use in a patients with Crohn's disease: a case report.
Journal of medical case reportsBeyond the Target: Re-Emergence of Mycoplasma pneumoniae Supports Reclassification of Adult Mucocutaneous Eruptions.
International journal of dermatologyTuberous sclerosis complex.
Nature reviews. Disease primersToxic Risks of Nightshade Species: A comprehensive review of the documented toxicity of Atropa belladonna, Solanum dulcamara, and Solanum nigrum.
Planta medicaMatriderm® as a biological scaffold in penile resurfacing: A single-centre case series.
Journal of plastic, reconstructive & aesthetic surgery : JPRAS"The Cancer that Carried the Chalk"-NXP2+ Paraneoplastic Dermatomyositis Unleashing Calcinosis Cutis and Peripheral Neuropathy.
The Journal of the Association of Physicians of IndiaThe overlap of ANCA associated vasculitis with Sjögren's syndrome in elderly male patient: a case report and literature review.
Frontiers in medicineA rare case of Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report.
International journal of surgery case reportsCongenital Volkmann ischemic contracture in an African neonate: a case report.
International journal of surgery case reportsNEMO-NDAS: Case Report and Review of the Literature.
Pediatric dermatology[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
Nephrologie & therapeutique[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCompliance of Dermatology Screening Visits Among Patients With Skin Cancer-Predisposing Pathogenic Variants.
JEADV clinical practiceDyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair.
Clinical, cosmetic and investigational dermatologyFounder effect and clinical heterogeneity of SLC27A4-related non-syndromic EDD in Réunion.
Journal of the European Academy of Dermatology and Venereology : JEADVOculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.
European journal of human genetics : EJHGNail Disorders in Children With Down Syndrome: A Multicenter Study.
Pediatric dermatologyA Rare Case of Paraneoplastic Raynaud's Phenomenon and Uveal Melanoma.
Acta dermatovenerologica Croatica : ADCMonkeypox Among Patients on PrEP - a Case Report.
Acta dermatovenerologica Croatica : ADCMycosis fungoides/Sézary syndrome and systemic Janus kinase inhibitors: a real-world retrospective study on behalf of the EORTC-CLTG.
The British journal of dermatologyNeonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.
Pediatric dermatologySkin hypersensitivity in chronic cough patients: symptom profiles and psychosomatic correlates.
Annals of medicineReversal of rare paraneoplastic syndromes in melanoma: fever and cutaneous melanosis.
Melanoma researchEfficacy and safety of common Chinese herbal medicines in treating psoriasis: a systematic review and meta-analysis.
Frontiers in pharmacologyThe Th17/Treg axis: a key to understanding and treating autoimmune disorders.
Open life sciencesIntegrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.
Frontiers in cell and developmental biologyCase Report: Successful management of refractory SAPHO syndrome with guselkumab-upadacitinib combination.
Frontiers in immunologyNovel Integration of Extracorporeal Membrane Oxygenation and Continuous Renal Replacement Therapy in Pediatric Patients With Severe Burns: A Case Report.
CureusCase of a genodermatosis presenting with verrucous lesions mimicking treatment-refractory warts.
JAAD case reportsIdiopathic multifocal calcinosis cutis presenting in a cat with vestibular syndrome: clinical, radiographic and histopathological findings.
JFMS open reportsDo different organ involvements cause different comorbidity profiles in Behçet's syndrome?
Postgraduate medicineMomordin Ic alleviates inflammation and skin barrier dysfunction of atopic dermatitis in vitro and in vivo.
Journal of ethnopharmacologyMicroneedle-based delivery of cell membrane vesicles as IL-17RA decoys for Psoriasis treatment.
Journal of nanobiotechnologySkin involvement is among the leading findings in children with inborn errors of immunity.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology[Potential complications and management of hyaluronic acid fillers in facial aesthetics].
Orvosi hetilapIncreased Prevalence of Extrathymic Neoplasms in Myasthenia Gravis Patients-A Population-Based, Matched Case-Control Study.
Muscle & nerveA Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Experimental dermatologyContact Urticaria to Chamois (Rupicapra rupicapra) Raw Muscle Meat in a Non-Occupational Hunter: First Documented Case.
Contact dermatitisSCORTEN and Novel Prognostic Markers in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: A Systematic Review and Meta-Analysis.
The Australasian journal of dermatologySafety and efficacy of blinatumomab in the treatment of refractory systemic sclerosis: a case series.
Annals of the rheumatic diseases[Postthrombotic syndrome: an update].
Dermatologie (Heidelberg, Germany)Case report: the unusual association of Kartagener's syndrome and systemic lupus erythematosus.
Annals of medicine and surgery (2012)Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient.
Frontiers in medicineStevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review of Cases Secondary to Topical Medications.
The Australasian journal of dermatologyHaloTag-based approach to quantify subcellular localization of TRPV3 channels.
Biophysical journalGiant cell arteritis-polymyalgia rheumatica spectrum disease (GPSD): Relation with neoplasms and possible role as a paraneoplastic syndrome.
Reumatologia clinicaEmergent endovascular parent artery occlusion for type 3 carotid blowout syndrome after charged particle therapy for recurrent maxillary carcinoma: a case report and literature review.
Turkish neurosurgeryOncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.
Journal of human immunity[Toxic Epidermal Necrolysis: Study of an 81-case Series].
Annals of burns and fire disastersHorns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.
Clinical nephrology. Case studiesPotential infliximab-induced Kounis syndrome in a patient with metastatic melanoma.
Allergologie selectClassifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.
Journal of dermatological sciencePart I. The role of Staphylococcus aureus in the pathophysiology of dermatologic disease.
Journal of the American Academy of DermatologyProgerin expression in humans: Implications for natural ageing.
Mechanisms of ageing and developmentDistal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.
Journal of Ayurveda and integrative medicineTargeting non-canonical NF-κB signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha.
The British journal of dermatologyScalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
Plastic and reconstructive surgery. Global openPrediction of antibiotic-associated cutaneous adverse drug reactions using electronic health record foundation models.
NPJ digital medicinePrenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant.
Prenatal diagnosisPatients with Ehlers-Danlos syndrome experience reduced effectiveness of lidocaine local anesthetic: a randomized cross-over clinical trial.
Regional anesthesia and pain medicine[Shulman syndrome: An atypical presentation of a rare disease].
Revista medica del Instituto Mexicano del Seguro SocialSecondary primary malignancies in indolent non-Hodgkin lymphoma patients receiving frontline bendamustine-rituximab.
CancerMapping malignant T-cell states and immune circuits in Sézary syndrome by single-cell analysis.
Journal of the European Academy of Dermatology and Venereology : JEADVOrbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.
Ophthalmic plastic and reconstructive surgerySoluble Fas Ligand, an overlooked target of therapy in dermatological and non-dermatological conditions.
The Journal of dermatological treatmentMultiple Skin Adnexal Tumours with Possible Syndromic Association.
CureusInvasive Pulmonary Aspergillosis in a Young Adult With Hyperimmunoglobulin E Syndrome and Hypogammaglobulinemia Following Rituximab Therapy.
CureusRenal Ultrasound in Patients With Preauricular Skin Tags: Is It Necessary and Who Needs It?
Plastic surgery (Oakville, Ont.)Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
Health science reportsTwin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.
Ultrasound (Leeds, England)Postural Orthostatic Tachycardia Syndrome Presenting With Recurrent Syncope After Cervical Spinal Cord Injury.
Clinical case reportsFrom static pathology to dynamic immunity: immunological plasticity and histopathological remodeling in atopic dermatitis and psoriasis.
Frontiers in immunologyWeathering the Storm: Legacies of Extreme Meteorological Events and Daily Weather Variability Shape the Skin Microbiota of the Endangered Golden Alpine Salamander Salamandra atra aurorae (Trevisan, 1982).
Ecology and evolutionBilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
Veterinary ophthalmologyA rare drug reaction: Toxic epidermal necrolysis following polymyxin B administration in a post-Bentall procedure.
Indian journal of pharmacologyEosinophilic Fasciitis in Pediatric Patients: A Rare but Distinct Autoimmune Fibrosing Disorder.
Pediatrics in reviewUnderstanding Cutaneous Sensory Syndromes: Diagnostic challenges and therapeutic implications.
Clinical and experimental dermatologyA comprehensive literature-based analysis of prognosis in patients with Cronkhite-Canada syndrome.
DigestionUpper Limb Edema as Predictor of Difficult Peripheral Intravenous Cannulation.
Journal of infusion nursing : the official publication of the Infusion Nurses SocietySpatial transcriptomics reveals mechanism of autoimmunity driven by internalized autoantibodies.
medRxiv : the preprint server for health sciencesManagement of mild hand-foot syndrome associated with medical cancer therapies with an alcohol-free moisturizing and reparative gel containing omental lipids, urea, bromelain, and carnosine: a pilot prospective 12-week study.
Dermatology reportsPapillon-Lefèvre syndrome with excellent response to risankizumab.
Dermatology reportsThe role of a multidisciplinary approach in non-melanoma skin cancer management.
Dermatology reportsA Retrospective Cohort Study on HHV-8 Viral Load and Prognosis in HIV-Associated Kaposi Sarcoma Among People Living with HIV in Japan.
VirusesEvidence on Measures for the Prevention of Pressure Injuries in Mechanically Ventilated Patients in Prone Positioning: A Systematic Review.
Healthcare (Basel, Switzerland)Reactive Infectious Mucocutaneous Eruption (RIME) Associated with Mycoplasma pneumoniae: Clinical and Immunological Insights from Pediatric Cases.
MicroorganismsRepurposing Alkylating Agents in Melanoma via ERCC8 Silencing: A Novel Therapeutic Strategy.
CancersModestly Increased Incidence of Irritable Bowel Syndrome in Hidradenitis Suppurativa: A Retrospective Cohort Study Using TriNetX.
International journal of dermatologyIntravenous immunoglobulin as a therapy for severe or steroid-recalcitrant erythema multiforme major: a case series.
Clinical and experimental dermatologyMultilineage differentiation drives hamartoma formation in large-to-giant congenital melanocytic naevi: evidence for naevocyte multipotency.
The British journal of dermatologyMetagenomic and Genomic Analyses Reveal Prevalent Spread and Evolution of the Bat White-Nose Pathogen Pseudogymnoascus destructans in Western Canada.
Journal of fungi (Basel, Switzerland)Clopidogrel-induced drug-induced hypersensitivity syndrome following percutaneous coronary intervention: a case report of therapeutic dilemma and management strategy.
Frontiers in pharmacologyGroup A β-hemolytic streptococcus causing purpura fulminans: two case reports.
Frontiers in immunologyPhysiological correlates and predictors of vasovagal responses following dry needling in myofascial pain syndrome: a controlled observational study.
Therapeutic advances in musculoskeletal diseaseArteriopathies: Too big to be true.
Annals of pediatric cardiologyHidden Drug Rash With Eosinophilia and Systemic Symptoms (DRESS): A Rare Case of Preceding Organ Damage Before Skin Manifestations.
Clinical case reportsMucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.
Journal of clinical research in pediatric endocrinologyTackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.
RMD openMonoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.
Journal of the American Academy of DermatologySIGNIFIED: whole-body MRI screening in Li-Fraumeni syndrome in the UK.
ESMO openClinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.
Immunity, inflammation and diseaseActivation of NF-κB signaling in tissue-resident memory T cells promotes recurrent psoriasis in mice.
Frontiers in immunologyConsensus recommendations for testing of Chlamydia trachomatis, Neisseria gonorrhoeae, Trichomonas vaginalis, and Mycoplasma genitalium infections in the Asia-Pacific (APAC)-modified Delphi method.
International journal of STD & AIDSPhenotypic description of a large French series of individuals with Potocki-Lupski syndrome.
Journal of medical geneticsDNA Damage and Skin Injuries Caused by Ionizing Radiation and Strategies for Wound Healing.
Progress in molecular and subcellular biologyUltrasound-guided cooled radiofrequency ablation for sacroiliac joint pain in a patient with PsAPASH syndrome: A case report.
Interventional pain medicineShort-term efficacy of intense pulsed light in the treatment of hordeolum: A prospective cohort study.
MedicineStevens-Johnson syndrome/toxic epidermal necrolysis induced by sintilimab in a patient with advanced non-small cell lung cancer: A case report.
MedicineDevelopmental, but not Homeostatic, Collagen V Expression Regulates Mature Murine Supraspinatus Tendon Structure, Function, and Gene Expression.
Journal of orthopaedic research : official publication of the Orthopaedic Research SocietyGlucagon-Like Peptide-1 Receptor Agonists as Adjunctive Therapy for Hidradenitis Suppurativa in Patients With Overweight/Obesity: A Narrative Review of Efficacy, Safety, and Quality-of-Life Outcomes.
International journal of dermatologyImproved Detection of Myositis-Specific Autoantibodies Using Luciferase Immunoprecipitation Systems Assay: Comparison with Line Blot and Conventional Immunoprecipitation.
Arthritis & rheumatology (Hoboken, N.J.)Case Report: Upadacitinib for SAPHO syndrome with biologics-induced paradoxical manifestation and Hyperimmunoglobulinemia E.
Frontiers in immunologyReal-world study of use patterns and clinical outcomes for patients with myelodysplastic syndrome initiating oral decitabine and cedazuridine or intravenous/subcutaneous hypomethylating agents.
Therapeutic advances in hematologyTrigeminal trophic syndrome.
Dermatology online journalStevens-Johnson syndrome as the presenting manifestation of human immunodeficiency virus and syphilis coinfection.
Dermatology online journalRegional oximetry for diagnosing compartment syndrome: a scoping review.
Journal of orthopaedic surgery and researchA new inducible mouse model of FH loss.
Methods in cell biologyAntioxidant regulatory mechanisms of retinoic acid and its therapeutic potential in oxidative stress-related diseases.
Biochemical pharmacologyFragile foal syndrome: manifestations, heterozygous advantage and the future of breeding policies.
Journal of equine veterinary scienceBowel-Associated Dermatosis and Arthritis Syndrome (BADAS) - A Literature Review With Diagnostic and Therapeutic Implications and a Report of Two Cases of BADAS Associated With Inflammatory Bowel Disease.
Archivum immunologiae et therapiae experimentalisCutaneous α-Synuclein Pathology as a Differential Marker: A Histological and Statistical Comparison across Neurodegenerative Disease Groups.
Journal of molecular neuroscience : MNEvaluation of Helicobacter pylori infection and clinical features in multiple sclerosis patients coexisting with vitiligo: Case-series.
Journal of the National Medical AssociationImaging-Based Diagnosis of a Ruptured Isolated Dissecting Abdominal Aortic Aneurysm: A Case Report.
Reports (MDPI)5α-Reductase Isoenzymes: From Neurosteroid Biosynthesis to Neuropsychiatric Outcomes.
NeuroSciSkin deep: dermatologic challenges in PCOS through the female lifespan.
Expert review of endocrinology & metabolismImpact of skin flap elevation technique on the extent of gustatory sweating after superficial parotidectomy: a comparative study.
BMC surgeryA case report of neurosarcoidosis mimicking Guillain-Barré syndrome: the diagnostic utility of skin biopsy in neurosarcoidosis.
BMC neurologyBispecific T cell engagers for treatment-refractory autoimmune connective tissue diseases.
Nature medicineInhibition of RIPK1 prevents keratinocyte cell death and reduces skin inflammation in type 1-mediated chronic inflammatory skin diseases.
The Journal of allergy and clinical immunologyPhenotypic clustering in adult SAPHO syndrome: A multicenter retrospective study of 102 patients.
Journal of the American Academy of DermatologyInterstitial cystitis: a phenotype and rare variant exome sequencing study.
EBioMedicineDiffuse Dermal Angiomatosis of the Breast Presenting as Diffuse Erythema Mimicking Inflammatory Breast Carcinoma in a Healthy Pregnant Patient.
The American Journal of dermatopathologyLaser therapy: palliative care for the Harlequin syndrome?
Einstein (Sao Paulo, Brazil)Mycosis fungoides and Sézary syndrome.
British journal of haematologyCase Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.
Frontiers in immunologyPosterior Fossa Sinking Skin Flap Syndrome Presenting With Orthostatic Vertigo After Decompressive Craniectomy: A Case Report.
CureusOmadacycline - Associated Anticardiolipin Antibody Positivity and Hypercoagulable State: A Case Report and Review of Tetracycline - Induced Immune Dysregulation.
Infection and drug resistanceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de cutis gyrata-acantose nigricans-craniossinostose.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de cutis gyrata-acantose nigricans-craniossinostose
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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.
- Epidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.
- IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
- Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
- Targeted neurological screening for RFC1-related disease in unexplained chronic cough.
- Tuberous sclerosis complex.
- Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1555(Orphanet)
- OMIM OMIM:123790(OMIM)
- MONDO:0007412(MONDO)
- GARD:332(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4876717(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
