É uma síndrome que combina uma deficiência grave de anticorpos com microcefalia acentuada (cabeça muito pequena), atraso importante no desenvolvimento, fechamento prematuro dos ossos do crânio, uma doença de pele grave, fenda no céu da boca, estreitamento das passagens de ar do nariz para a garganta e abertura pequena dos olhos. Foi descrita em três irmãos, dois meninos e uma menina, nascidos de pais que não são parentes. A transmissão é provavelmente autossômica recessiva. Acredita-se que esta síndrome represente uma nova forma de deficiência de anticorpos, causada por um problema no amadurecimento inicial das células B (um tipo de célula de defesa).
Introdução
O que você precisa saber de cara
É uma síndrome que combina uma deficiência grave de anticorpos com microcefalia acentuada (cabeça muito pequena), atraso importante no desenvolvimento, fechamento prematuro dos ossos do crânio, uma doença de pele grave, fenda no céu da boca, estreitamento das passagens de ar do nariz para a garganta e abertura pequena dos olhos. Foi descrita em três irmãos, dois meninos e uma menina, nascidos de pais que não são parentes. A transmissão é provavelmente autossômica recessiva. Acredita-se que esta síndrome represente uma nova forma de deficiência de anticorpos, causada por um problema no amadurecimento inicial das células B (um tipo de célula de defesa).
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
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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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)
🇧🇷 Atendimento SUS — Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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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.
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Biallelic pathogenic variants in DSG1 encoding desmoglein 1 cause severe atopic dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome, whereas heterozygous variants result in palmoplantar keratoderma (PPK). Here we investigate genetic variants, pathophysiology and clinical findings of three patients with SAM syndrome and eleven patients diagnosed with PPK. Genetic analysis was used to identify variants in DSG1. Immunofluorescence staining was performed to determine DSG1 protein expression in SAM patients. In SAM syndrome and PPK patients eleven novel variants in DSG1 were identified. In the SAM patients with a severe, intermediate and mild phenotype, we identified compound heterozygous, a known dominant, and homozygous variants, respectively, while clinical variability in PPK patients was observed. The variants in DSG1 for SAM and PPK included scarcely reported missense (n = 4), nonsense (n = 4), splice-site (n = 2) variants, a small deletion/duplication (n = 3) and a never reported gross deletion (n = 1). Immunofluorescence staining in skin of SAM patients showed that the severity of the symptoms correlates with total or partial extracellular absence of DSG1, suggesting a potential difference in protein stability. Hence, loss-of-function variants that occur in the extracellular or transmembrane domains of DSG1, resulted in loss of intercellular connecting and anchoring capability, while intracellular variants, partly preserve the adhesive function of DSG1. Our results contribute to better understanding the genotype-phenotype correlation associated with DSG1 variants, although the exact pathophysiological mechanisms remain to be elucidated.
A case of Stevens-Johnson syndrome triggered by Mycoplasma infection.
Stevens-Johnson syndrome (SJS) is a rare, potentially life-threatening mucocutaneous disorder, which is often triggered by infections such as Mycoplasma pneumoniae. This report describes a 19-year-old woman who initially presented with oral erosions and painful blisters, along with fever and cough. Oral lesions preceded skin and ocular involvement, and tests confirmed Mycoplasma-associated SJS. She responded to steroid pulse therapy but relapsed at 3 months and was then successfully treated. Oral manifestations may be early SJS indicators; thus, prompt recognition and interdisciplinary care by oral health professionals are vital for improving clinical outcomes.
Validation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.
Accurate classification of dermatologic conditions using International Classification of Diseases (ICD) codes is essential for research that uses large administrative datasets. Misclassification can be associated with biased epidemiologic estimates and misleading conclusions in population-based studies. To systematically identify and evaluate validated classification approaches for dermatologic conditions using ICD codes in US-based administrative, claims, or electronic health record data. A systematic review was conducted that was registered with PROSPERO (CRD420250654233) and reported according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A comprehensive search of Ovid MEDLINE, Embase, Web of Science, and CINAHL was conducted for studies published from January 1, 2000, to October 21, 2025. The data were analyzed in October 2025. Eligible studies evaluated International Classification of Diseases, Ninth Revision (ICD-9) or International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) codes used to identify dermatologic conditions in US-based datasets and reported at least 1 classification metric (eg, positive predictive value). To minimize selection and extraction bias, all screening and data extraction were performed independently by 2 reviewers, with discrepancies resolved by consensus. A total of 59 studies met inclusion criteria. Most reported positive predictive value, with few reporting sensitivity or specificity. Classification accuracy varied widely by condition and coding strategy. Studies included inflammatory and autoimmune conditions (eg, acne vulgaris, perioral dermatitis, psoriasis, palmoplantar pustulosis, hidradenitis suppurativa, atopic dermatitis, prurigo nodularis, dermatomyositis, cutaneous lupus erythematosus, pyoderma gangrenosum, cutaneous sarcoidosis, pemphigus, pemphigoid, granuloma annulare, alopecia areata, and vitiligo), actinic keratosis and skin cancer, pigmentary and hair disorders (eg, androgenic alopecia, cicatricial alopecia, lichen planopilaris, and melasma), drug reactions (eg, Stevens-Johnson syndrome, toxic epidermal necrolysis), and infections (eg, herpes zoster, herpes simplex virus, and cellulitis or abscess). Classification algorithms that incorporated 2 or more codes, dermatologist attribution, or treatment/procedural data often achieved the highest accuracy. Conditions lacking validated algorithms included seborrheic dermatitis, rosacea, fungal infections, and specific alopecia subtypes. This systematic review provides a summary of the most accurate classification approaches to identify various dermatologic conditions in large administrative datasets. These results may inform study designs when using these datasets. In addition, some common conditions lack validated classification approaches, highlighting important areas for future research. As administrative and electronic health record data increasingly support dermatology research, use of rigorously validated algorithms will be essential for generating trustworthy findings.
Recovering From Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) survivors experience substantial long-term sequelae. Research on physical symptoms experienced during acute hospitalization is well documented, but limited studies have been completed on the long-term biopsychosocial effects of SJS/TEN, particularly from the patient's perspective. To increase the understanding of the long-term complications of SJS/TEN. This qualitative investigation was completed from within a community-based study, the SJS Survivors Study, using a semistructured, in-depth interview guide to query participants about their SJS/TEN experience postdischarge from the hospital. Interviews took place by phone from July 2021 through August 2023. This study included adults who experienced SJS/TEN within the United States. A biopsychosocial theory-based framework and hierarchical coding system were utilized to understand the long-term life impacts of survivors of SJS/TEN. The 29 participants, aged 26 to 76 years, were 66% female and 69% White and had experienced SJS/TEN from a wide range of drugs. Patients experienced support while in the hospital, but once discharged, felt isolated and without support to understand the potential sustained impacts of SJS/TEN in their lives and the lives of their family members. Patients experienced ongoing biological symptoms, such as skin issues, debilitating visual impairment, blindness, and lack of functional autonomy. Psychological impacts included symptoms of anxiety, obsessive thinking, flashbacks, and depression. Socially, some survivors expressed a sense of abandonment and described negative impacts on their careers. Survivors also expressed frustration and isolation with having to navigate posthospital care alone. There was a lack of preemptive discharge education and SJS/TEN-specific planning. Lack of physician knowledge about SJS/TEN was particularly noted and survivors turned to the internet for guidance instead of receiving direction from their physicians. Medical distrust among survivors was frequently noted. The findings highlight the need for postdischarge care coordination among patients and their primary physicians, including mental health support. This care coordination should be arranged prior to discharge to ensure the availability of adequate support and optimal health outcomes. It is essential that clinicians and researchers prioritize the understanding of long-term sequelae of SJS/TEN and improve current discharge education and protocols for patients and their families.
Publicações recentes
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Characterization of Contact Urticaria Syndrome Phenotypes: A Retrospective Study of 95 Cases.
Drug-Induced Enterocolitis Syndrome: An Updated Review of Diagnosis and Management.
📚 EuropePMCmostrando 200
Checkerboard 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.
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Journal of the European Academy of Dermatology and Venereology : JEADVQuantitative assessment of tear film function and meibomian gland morphology in newly diagnosed atopic dermatitis.
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Journal of medical case reportsGefitinib-induced unilateral papulopustular dermatosis: an uncommon presentation.
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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyKDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.
American journal of medical genetics. Part ASevere Cutaneous Signs of Hipersensitivity to Drugs in a Pediatric Hospital.
Actas dermo-sifiliograficasGranulomatous mastitis, erythema nodosum, and arthritis syndrome: a narrative review.
Frontiers in immunologyAllergic comorbidities among inborn errors of immunity in children attended in a high-complexity center in Cali, Colombia.
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The British journal of dermatologyP10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.
The British journal of dermatologyCheilitis: a comprehensive review and a new clinical classification proposal. Part 1: Isolated cheilitis.
Italian journal of dermatology and venereology[Clinical Approach to the Patient With Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: Part II].
Revista medica de ChileEvidence for the Use of Janus Kinase (JAK) Inhibitors in the Management of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Scoping Review.
The Australasian journal of dermatologyModerate-to-severe atopic dermatitis and systemic corticosteroids are associated with insulin resistance and metabolic syndrome.
JAAD internationalAdverse Food Reactions in Dogs and Cats.
The Veterinary clinics of North America. Small animal practiceDrug-induced cutaneous toxicities in solid tumor oncology: mechanisms, manifestations, and management.
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TalantaTopical steroid withdrawal syndrome: developing diagnostic criteria through a modified Delphi method.
The British journal of dermatologyAssociation of dermatological manifestations with in fertility: A systematic review of literature.
JPMA. The Journal of the Pakistan Medical Association[Generalised exanthema with abdominal sepsis].
PraxisBullous Wells' Syndrome: Case Report and Systematic Review.
Journal of clinical medicineOcular administration of brinzolamide leading to Stevens-Johnson syndrome/toxic epidermal necrolysis overlap: A case report and review.
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Frontiers in immunologyOphthalmic complications of radiotherapy.
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Clinical and translational scienceStevens-Johnson syndrome/toxic epidermal necrolysis induced by tislelizumab: a case report and literature review.
Frontiers in immunologyYes-associated protein regulates autophagy to restore skin barrier function in atopic dermatitis.
Frontiers in immunologySevere cutaneous adverse reactions linked to medications in children and adolescents: a pharmacovigilance study based on the FDA Adverse Event Reporting System database.
International journal of clinical pharmacyA Retrospective Cohort Study on the Efficacy of Pregabalin in Patients With Sensitive Skin.
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The Medical journal of MalaysiaCheilitis: a comprehensive review and a new clinical classification proposal. Part 2: Cheilitis associated with dermatological diseases, systemic diseases, or drug reactions.
Italian journal of dermatology and venereologyOverlap of Toxic Epidermal Necrolysis (TEN)-Like Cutaneous Lupus and Rowell Syndrome in Systemic Lupus Erythematosus: A Case-Based Review.
CureusAntisense molecules: A promising new therapy for atopic dermatitis.
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The British journal of dermatologyComparative Impact of NSAIDs Versus Acetaminophen on Mortality in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Retrospective Cohort Study of 2484 Patients From a Nationwide Inpatient Database.
The Journal of dermatologyMycoplasma pneumoniae-Induced Rash and Mucositis: Clinicopathologic Characterization of 11 Cases.
Journal of cutaneous pathologyOcular involvement in Stevens-Johnson syndrome and toxic epidermal necrolysis: A review of current management and changing trends.
Indian journal of ophthalmologyImmune Checkpoint Inhibitor-Related Epidermal Necrosis: Terminology, Pathology, and Clinical Implications.
Archives of pathology & laboratory medicineThe therapeutic potential of Astragalus membranaceus in atopic dermatitis: from traditional applications and modern pharmacological research to regulation of the Gut-Skin Axis.
Frontiers in pharmacologyThe Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
The journal of allergy and clinical immunology. In practiceClinical characteristics and management of dupilumab-associated ocular surface disease in Japan.
Japanese journal of ophthalmologyAnalysis of clinical characteristics of tislelizumab-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in the Chinese population: a systematic review.
Cutaneous and ocular toxicologyTislelizumab-associated toxic epidermal necrolysis in an esophageal cancer patient: a case report.
Frontiers in immunologyChemotherapy-induced hand-foot syndrome among Chinese inpatients: a qualitative descriptive study in Shanghai.
BMJ open[Acupuncture for chronic eczema of blood deficiency stirring wind: a randomized controlled trial].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionTitel: Risk of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Among Patients Treated With Immune Checkpoint Inhibitors Compared to Other Antineoplastic Medications: A Nationwide Study.
Pharmacoepidemiology and drug safetyApalutamide-induced life-threatening dermatologic toxicity: Clinical histopathological correlations and salvage therapies in four cases: Case report series.
MedicineDevelopment of an LC-MS/MS method for the quantification of sunitinib and its metabolites in human nail and skin.
Journal of pharmaceutical and biomedical analysisA real-world drug safety surveillance study from the FAERS database of hepatocellular carcinoma patients receiving durvalumab in combination with tremelimumab.
Frontiers in immunologyCharacterization of food protein-induced enterocolitis syndrome among Asian American children.
Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & ImmunologyManagement of Patients with Nickel Hypersensitivity Undergoing Patent Foramen Ovale Closure.
Journal of clinical medicineRecovering From Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
JAMA dermatologySuccessful Use of Tralokinumab in a Pediatric Patient With STAT3 Hyper-IgE Syndrome Following Dupilumab-Associated Conjunctivitis.
International journal of dermatologyLEKTI-Grafted Sunflower Trypsin Inhibitor: A Potential Therapeutic for Skin Diseases.
Journal of medicinal chemistryA Case of Immunotherapy-Induced Balanitis.
CureusCombined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.
Journal of clinical immunologyUtilization of the All of Us Research Program in a study of genetics in Yao syndrome.
The Journal of allergy and clinical immunologySkin-adverse drug reactions in the elderly: An underestimated and avoidable issue.
Annales de dermatologie et de venereologieChromophobe renal cell carcinoma with metastatic progression and cabozantinib-induced hand-foot syndrome.
BMJ case reportsDouble-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.
Journal of medical case reportsEpithelial Barrier Diseases Among Adult Patients With Seborrheic Dermatitis.
JAMA dermatologyPegylated liposomal doxorubicin-induced hand-foot syndrome in a patient with breast cancer: Case report and FAERS database analysis.
International journal of clinical pharmacology and therapeuticsSurgery for Symblepharon Developed Due to Stevens-Johnson Syndrome: Modified Ring Procedure Performed Through Amniotic Membrane Transplantation and a 6 French Aspiration Catheter.
Romanian journal of ophthalmologyStevens-Johnson syndrome or toxic epidermal necrolysis from antihypertensive medications: A systematic review of cases.
MedicineTreatment of Refractory Pruritic Dermatitis in the Setting of Primary Biliary Cholangitis and CREST Syndrome With Upadacitinib.
Journal of drugs in dermatology : JDDIntravenous Lipid Emulsion-Induced Soy Allergy and Atopic Dermatitis in an Infant: A Case Report.
Pediatric allergy, immunology, and pulmonologyA Painful Grip: A Case of Gonococcal Arthritis Masquerading as Wrist Pain.
CureusA Case of an Allergic Contact Dermatitis Following the Administration of Enoxaparin: A Case Report and Review of the Literature.
Clinical medicine insights. Case reportsNetherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Acta dermatovenerologica Croatica : ADCEpiregulin drives keratinocyte hyperproliferation in sorafenib-induced hand-foot skin reaction: A mechanistic and therapeutic insight.
Clinics (Sao Paulo, Brazil)Psychological Complications of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review and Meta-Analysis.
The Australasian journal of dermatologyMevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.
Journal of medical case reportsDiscovery of a predictive model for anlotinib-induced hand-foot syndrome based on metabolomics.
Journal of pharmaceutical and biomedical analysisDermal, respiratory and neurological effects following workplace exposure to diisopropylcarbodiimide.
Clinical toxicology (Philadelphia, Pa.)Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biologyOcular manifestations in Stevens‒Johnson syndrome/toxic epidermal necrolysis in cancer patients.
The ocular surfaceHLA-B*58:01 and Risk of Allopurinol-Induced Severe Cutaneous Adverse Reactions in the US.
JAMA dermatologyEffective Treatment of Nicolau Syndrome Induced by Etofenamate Injection Using Hyperbaric Oxygen Therapy.
Advances in skin & wound careSummary of the Best Evidence on Skin-Mucosal Care in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis.
Advances in skin & wound carePsoriasis in the Context of Dermatologic Disorders: A Comprehensive Overview.
Diseases (Basel, Switzerland)Toxic Epidermal Necrolysis and Mortality: A Danish Cohort Study With 30 Years of Follow-Up.
The Journal of dermatologyCausation and epidemiological features of proliferative lip and facial lesions in Lao goats.
Tropical animal health and productionPostoperative Staphylococcal Toxic Shock Syndrome in a Patient Following Right Knee Fracture Repair: A Case Report.
CureusCutaneous Manifestations and Dermatologic Adverse Events in IBD: A Clinical Update.
Inflammatory bowel diseasesSevere Toxicities From Definitive Chemoradiotherapy for Oropharyngeal Cancer in a Patient With Comorbid Sjögren's Syndrome.
CureusNetherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab.
The Journal of dermatological treatmentNeurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
CureusNocardia in inborn errors in immunity.
Infectious diseases (London, England)Characterization of Contact Urticaria Syndrome Phenotypes: A Retrospective Study of 95 Cases.
Acta dermato-venereologicaTwo-month-old with diffuse erythema: A case report.
SAGE open medical case reportsDermatologic Conditions Associated With Various Types of Popular Nail Cosmetics: A Systematic Review of Existing Literature and Future Recommendations.
Journal of cosmetic dermatology[Current dermatology guidelines in Germany: a selection of clinically relevant recommendations].
Dermatologie (Heidelberg, Germany)Research progress on traditional Chinese medicine compounds in autoimmune-related skin diseases.
Frontiers in immunologyAtopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.
Immunologic researchBiologic therapies for dermatologic emergencies: A comprehensive review.
Journal of the American Academy of DermatologyThe Impact of Bariatric Surgery on the Development and Progression of Dermatologic Diseases: A Narrative Review.
Dermatology and therapyPrognostic impact of hand-foot skin reaction in regorafenib-treated adult-type diffuse gliomas: A multicenter Turkish Oncology Group study.
Scientific reportsCurcumin in Inflammatory Complications: Therapeutic Applications and Clinical Evidence.
International journal of molecular sciencesAmniotic membrane transplantation techniques in acute ocular Stevens-Johnson syndrome and toxic epidermal necrolysis: A systematic review.
The ocular surfaceRelationship Between Chronic Ocular Surface and Meibomian Gland Changes and Clinical Assessment Tool in Cicatricial Conjunctival Diseases.
Ocular immunology and inflammationDrug-Induced Enterocolitis Syndrome: An Updated Review of Diagnosis and Management.
Journal of investigational allergology & clinical immunologyAn infant with drug reaction with eosinophilia and systemic symptoms caused by phenobarbital and amoxicillin: A case report.
MedicineEpidermal necrolysis (Stevens-Johnson syndrome/ toxic epidermal necrolysis) as extensive boundary violation: A qualitative study on the illness experience and care needs of survivors in the context of the first German guideline.
PloS one[A CASE OF PEDIATRITIC TOXIC EPIDERMAL NECROSIS TRIGGERD BY OVER-THE-COUNTER EYE DROPS].
Arerugi = [Allergy]Emerging mycotoxic syndromes in France: Epidemiological trends and public health implications (2015-2022).
Toxicon : official journal of the International Society on ToxinologyStevens-Johnson syndrome-toxic epidermal necrolysis spectrum reactions to immune checkpoint inhibitor therapy and safety of rechallenge: A retrospective review.
JAAD case reportsPediatric Stevens-Johnson syndrome and toxic epidermal necrolysis: age-stratified insights from the FAERS database.
Jornal de pediatriaSkin Manifestations in VEXAS Syndrome: Specific Clonal Infiltrates versus Non-Specific Reactive Findings.
Case reports in dermatologyEarly-onset Sulzberger-Garbe dermatosis: a rare pediatric case report.
Folia medica CracoviensiaMultidisciplinary management of antiepileptic drug-induced toxic epidermal necrolysis in a young woman.
Biomedica : revista del Instituto Nacional de SaludClinical Outcomes of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Based on Hospital Admission Type.
CutisIntegrated data mining and network pharmacology to explore the prescription patterns from a senior TCM oncologist's clinical practice in treating chemotherapy-induced hand-foot syndrome.
MedicineChemotherapy-related hand-foot syndrome and hand-foot skin reaction: a review of management and possible approaches for Asian patients by the Japanese pharmacist-led oncodermatology study team.
International journal of clinical oncologyDEFA5-producing CD4+ T cells in the intestines of atopic dermatitis patients play an important role in the development of AD-associated intestinal inflammation.
Frontiers in immunologyNickel Allergy Masquerading as Irritable Bowel Syndrome: Case Report.
Journal of the Academy of Nutrition and DieteticsClindamycin-Induced Dermatitis and the Sparing Phenomenon: A Case Report.
CureusDual TRBC1-CD3 Immunohistochemistry Shows High Diagnostic Utility in Differentiating Mycosis Fungoides/Sezary Syndrome From Reactive Inflammatory Dermatoses in Skin Biopsies.
The American journal of surgical pathology[DRESS syndrome associated with levetiracetam use in a pediatric patient. A case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)[Autoimmunity in Patients with CTLA-4 Haploinsufficiency].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Associações
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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.
- Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
- Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.
- A case of Stevens-Johnson syndrome triggered by Mycoplasma infection.
- Validation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.
- Recovering From Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
- Excited Skin Syndrome (Angry Back), What Do We Know About It? A Review of the Literature.
- Granulomatous mastitis, erythema nodosum, and arthritis syndrome: a narrative review.
- Characterization of food protein-induced enterocolitis syndrome among Asian American children.
- Characterization of Contact Urticaria Syndrome Phenotypes: A Retrospective Study of 95 Cases.
- Drug-Induced Enterocolitis Syndrome: An Updated Review of Diagnosis and Management.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:83617(Orphanet)
- OMIM OMIM:610483(OMIM)
- MONDO:0012508(MONDO)
- GARD:10011(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55783750(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