Raras
Buscar doenças, sintomas, genes...
Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave
ORPHA:83617CID-10 · Q87.0CID-11 · 4A01.00OMIM 610483DOENÇA RARA

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).

Mantido por Agente Raras·Colaborar como especialista →

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

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
3
pacientes catalogados
Início
Antenatal
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 20%
Triagem neonatal (Fase 4)CID-10: Q87.0
🇧🇷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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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
8 sintomas
🦴
Ossos e articulações
7 sintomas
🫃
Digestivo
5 sintomas
🧠
Neurológico
4 sintomas
📏
Crescimento
4 sintomas
🧬
Pele e cabelo
4 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

90%prev.
Contagem total de linfócitos B diminuída
Muito frequente (99-80%)
55%prev.
Micrognatia
Frequente (79-30%)
55%prev.
Craniossinostose coronal
Frequente (79-30%)
55%prev.
Microcefalia
Frequente (79-30%)
55%prev.
Atraso global do desenvolvimento
Frequente (79-30%)
55%prev.
Aracnodactilia
Frequente (79-30%)
54sintomas
Muito frequente (1)
Frequente (19)
Ocasional (34)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 54 características clínicas mais associadas, ordenadas por frequência.

Contagem total de linfócitos B diminuídaDecreased total B cell count
Muito frequente (99-80%)90%
MicrognatiaMicrognathia
Frequente (79-30%)55%
Craniossinostose coronalCoronal craniosynostosis
Frequente (79-30%)55%
MicrocefaliaMicrocephaly
Frequente (79-30%)55%
Atraso global do desenvolvimentoGlobal developmental delay
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025102 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: KREC (Kappa-deleting Recombination Excision Circles)
Fase 4 do PNTNpending
Incidência no Brasil: 1:200.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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 agamaglobulinemia-microcefalia-craniossinostose-dermatite grave

🗺️

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

Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.

Frontiers in cellular and infection microbiology2026

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.

#2

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Journal of dermatological science2026 Jan 31

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.

#3

A case of Stevens-Johnson syndrome triggered by Mycoplasma infection.

Journal of oral science2026

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.

#4

Validation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.

JAMA dermatology2026 Feb 01

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.

#5

Recovering From Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.

JAMA dermatology2026 Jan 01

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

Ver todas no PubMed

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2026

Checkerboard Hyperkeratosis With Apoptotic Keratinocytes as Features of Mechanic's Hands and Review of the Literature.

The American Journal of dermatopathology
2026

Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.

Annals of plastic surgery
2026

Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.

Frontiers in cellular and infection microbiology
2026

Sintilimab-induced toxic epidermal necrolysis complicated in advanced gastric cancer: a case report and literature review.

Frontiers in immunology
2026

An Unusual Presentation of Nicolau Syndrome in the Upper Limb: A Case Report from Northern Ecuadorian Amazonia.

Journal of clinical medicine
2026

Cutaneous T-cell lymphomas and dupilumab for atopic dermatitis: A systematic review and expert consensus.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

Quantitative assessment of tear film function and meibomian gland morphology in newly diagnosed atopic dermatitis.

Arquivos brasileiros de oftalmologia
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SEVERE TOXIC EPIDERMAL NECROLYSIS COMPLICATED BY ACUTE KIDNEY INJURY: DIAGNOSTIC AND THERAPEUTIC CONSIDERATIONS.

Georgian medical news
2026

Momordin Ic alleviates inflammation and skin barrier dysfunction of atopic dermatitis in vitro and in vivo.

Journal of ethnopharmacology
2026

Contact Urticaria to Chamois (Rupicapra rupicapra) Raw Muscle Meat in a Non-Occupational Hunter: First Documented Case.

Contact dermatitis
2026

HaloTag-based approach to quantify subcellular localization of TRPV3 channels.

Biophysical journal
2026

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Journal of dermatological science
2026

Part I. The role of Staphylococcus aureus in the pathophysiology of dermatologic disease.

Journal of the American Academy of Dermatology
2026

Associations between metabolic syndrome and allergic diseases a nationwide study in Korea and literature review.

Scientific reports
2026

Soluble Fas Ligand, an overlooked target of therapy in dermatological and non-dermatological conditions.

The Journal of dermatological treatment
2026

Tic disorders and allergic diseases: mechanistic links and the impact of allergy management - a narrative review.

Frontiers in allergy
2026

From static pathology to dynamic immunity: immunological plasticity and histopathological remodeling in atopic dermatitis and psoriasis.

Frontiers in immunology
2026

A rare drug reaction: Toxic epidermal necrolysis following polymyxin B administration in a post-Bentall procedure.

Indian journal of pharmacology
2026

Molecular Epidemiological Investigation and Genetic Evolution Analysis of Porcine Circovirus 3 in Hunan Province, China, from 2021 to 2024.

Viruses
2025

Activation of NF-κB signaling in tissue-resident memory T cells promotes recurrent psoriasis in mice.

Frontiers in immunology
2026

[Inflammatory dermatosis in adult chronic non-bacterial osteomyelitis (adult CNO) from a dermatological perspective].

Zeitschrift fur Rheumatologie
2026

Stevens-Johnson syndrome/toxic epidermal necrolysis induced by sintilimab in a patient with advanced non-small cell lung cancer: A case report.

Medicine
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Stevens-Johnson syndrome as the presenting manifestation of human immunodeficiency virus and syphilis coinfection.

Dermatology online journal
2026

Safety and feasibility of S-1 after capecitabine-induced toxicity in the adjuvant treatment of colon cancer patients: A population-based real-world study.

European journal of cancer (Oxford, England : 1990)
2026

Molecular Insights Into TNF-α and IFN-γ-Induced Epithelial Cell Death in Toxic Epidermal Necrolysis.

Journal of biochemical and molecular toxicology
2026

Symmetrical Drug-Related Intertriginous and Flexural Exanthema (SDRIFE)-Like Presentation in a Case of Systemic Contact Dermatitis to Paraphenylenediamine (PPD).

Cureus
2026

Severe DRESS syndrome with hemophagocytic lymphohistiocytosis and cryptococcal meningitis: a case report and diagnostic challenge.

Frontiers in immunology
2026

Case Report: IL2RA (CD25) deficiency: first reported cases in Morocco.

Frontiers in immunology
2026

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.

Current rheumatology reports
2026

Excited Skin Syndrome (Angry Back), What Do We Know About It? A Review of the Literature.

Journal of cosmetic dermatology
2026

Delayed Hypersensitivity to Endocardial Device: An Under-Recognised Cause of Systemic Symptoms.

Contact dermatitis
2026

Genomic Characterization of Multidrug-Resistant Myroides Odoratimimus from Pneumonic Piglets: A One Health Threat.

Current microbiology
2026

Neonatal Netherton syndrome: Dermoscopic clues for early diagnosis.

JAAD case reports
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Toxic epidermal necrolysis associated with immune checkpoint inhibitors for bladder cancer: A case report.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2026

From Aortitis to Sweet's: The Immune Spectrum of G-CSF Adverse Events.

Seminars in arthritis and rheumatism
2026

Pediatric IPEX-Associated Dermatitis Responds To Dupilumab: Evidence from Skin Transcriptomics and Immune Profiling.

Journal of clinical immunology
2026

A Case of Estrogen Dermatitis Successfully Treated With Spironolactone.

Cureus
2026

Cyclosporine use in paediatric dermatologic conditions: A comprehensive review of therapeutic applications.

British journal of clinical pharmacology
2025

Infestation by Sarcoptes scabiei causes distinct differences in sarcoptic mange disease syndromes among sympatric carnivoran species.

International journal for parasitology. Parasites and wildlife
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Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.

Cureus
2026

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part I - Mechanisms of Toxicity.

Journal of the American Academy of Dermatology
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Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part II - Approach to Management and Treatment.

Journal of the American Academy of Dermatology
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Polymorphisms of FGFR Pathway-related Factors and Capecitabine-induced Hand-foot Syndrome in Japanese Patients With Colorectal Cancer.

Anticancer research
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Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

European journal of medical genetics
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Therapeutic Update on Topical Steroid Withdrawal.

Dermatitis : contact, atopic, occupational, drug
2026

Sézary syndrome arising from cutaneous epitheliotropic T-cell lymphoma, resembling human folliculotropic mycosis fungoides, in a dog.

Journal of comparative pathology
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[A Case Report of Cutaneous Scedosporium apiospermum Presenting with Cellulitis-like Cutaneous Findings and A Review of the Literature].

Mikrobiyoloji bulteni
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Cutaneous paraneoplastic syndromes in cats: a comparative clinical review.

Journal of feline medicine and surgery
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Potential benefits of JAK inhibitor therapy in Blau syndrome: a case report.

Frontiers in immunology
2025

Immune checkpoint inhibitor-related Stevens-Johnson syndrome and toxic epidermal necrolysis: a retrospective analysis of 21 cases.

Frontiers in immunology
2026

Palmitoylethanolamide for Nickel Allergy: Plausible, Untested, and Worth Considering.

Biomedicines
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Allopurinol-induced drug reaction with eosinophilia and systemic symptoms syndrome in a patient with previous nephrectomy: a case report.

Journal of medical case reports
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Drug Reaction with Eosinophilia and Systemic Symptoms Following Antibiotic Cement Spacer Placement: A Case Report.

JBJS case connector
2026

Diagnostic Implications of Dupilumab-Refractory Atopic Dermatitis: Risk of Underlying Cutaneous T-Cell Lymphoma and the Role of Skin Biopsy.

International journal of dermatology
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Analysis of intercellular lipids in the stratum corneum of patients with capecitabine-induced hand-foot syndrome: comparison with the stratum corneum of healthy individuals.

Cancer chemotherapy and pharmacology
2025

Spectrum mining of immune checkpoint inhibitor-related cutaneous toxicities and analysis of associated factors based on FAERS.

Frontiers in pharmacology
2025

The fish that rashes: Contact urticaria syndrome induced by recreational fishing.

JAAD case reports
2026

A case of Stevens-Johnson syndrome triggered by Mycoplasma infection.

Journal of oral science
2026

Identification of novel signal of DRESS associated with antibiotics: a disproportionality analysis of the FDA adverse event reporting system (FAERS) database.

European journal of clinical pharmacology
2025

[A Case of Toxic Epidermal Necrolysis during Chemotherapy for Advanced Gastric Cancer].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
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Identifying potential drug targets for seborrhoeic dermatitis and dry eye syndrome through mendelian randomisation analysis.

Clinical &amp; experimental optometry
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Clinicopathologic and Immunohistochemical Features of Enfortumab Vedotin-Induced Cutaneous Toxicity.

International journal of dermatology
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Generalized Bullous Fixed Drug Eruption: A Systematic Review.

The journal of allergy and clinical immunology. In practice
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Microbiological findings and antimicrobial resistance dynamics in pathogens isolated from patients with toxic epidermal necrolysis: a single center experience.

Epidemiologie, mikrobiologie, imunologie : casopis Spolecnosti pro epidemiologii a mikrobiologii Ceske lekarske spolecnosti J.E. Purkyne
2026

An unusual presentation of dermatitis in a Yao syndrome patient.

JAAD case reports
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Lamotrigine-Induced DRESS Syndrome with Myelosuppression in a Patient with Bipolar Disorder: Case Report.

Psychopharmacology bulletin
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Reduced immunoglobulin requirement after dupilumab for atopic dermatitis in trichohepatoenteric syndrome.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
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Outcome of sutureless amniotic membrane dressing ring for acute Stevens-Johnson syndrome with severe ocular involvement: A case report of 5 patients.

Medicine
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Examining the Unanswered Questions in TSW: A Case Series of 16 Patients and Review of the Literature.

Journal of clinical medicine
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Insulin Resistance, Metabolic Syndrome, and Inflammatory Skin Disease.

Journal of clinical medicine
2026

Nemolizumab for chronic pruritus beyond atopic dermatitis and prurigo nodularis: a systematic review and synthesis of emerging evidence.

The Journal of dermatological treatment
2026

Compassionate boron neutron capture therapy for locally recurrent nasopharyngeal cancer: A retrospective study.

Journal of the Chinese Medical Association : JCMA
2026

Validation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.

JAMA dermatology
2026

Multifaceted role of interleukin-32 in inflammatory diseases and cancer.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

A Rapid Drug-Induced Granulomatous Dermatitis to Amlodipine.

The American journal of cardiology
2025

DRESS syndrome in a patient with rheumatoid arthritis: Navigating the intersection of drug-induced hypersensitivity and immune-mediated inflammation.

BMJ case reports
2025

Health Care Utilization in Patients With Atopic Dermatitis Experiencing Topical Steroid Withdrawal: Observational Cross-Sectional Social Media Questionnaire Study.

JMIR formative research
2025

Acute hepatitis in a biological male patient secondary to suspected disseminated gonococcal infection in the absence of Fitz-Hugh-Curtis syndrome: a case report.

Journal of medical case reports
2025

Gefitinib-induced unilateral papulopustular dermatosis: an uncommon presentation.

BMJ case reports
2025

Risk factors and predictive score for phenytoin-induced cutaneous reactions.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

American journal of medical genetics. Part A
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Severe Cutaneous Signs of Hipersensitivity to Drugs in a Pediatric Hospital.

Actas dermo-sifiliograficas
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Granulomatous mastitis, erythema nodosum, and arthritis syndrome: a narrative review.

Frontiers in immunology
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Allergic comorbidities among inborn errors of immunity in children attended in a high-complexity center in Cali, Colombia.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2026

The Predictive Value of Inflammatory Markers in the Severity and Mortality Risk of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis.

The Journal of dermatology
2026

Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.

Clinical immunology (Orlando, Fla.)
2026

Increased TNF-α in SJS/TEN induced by PD-1 inhibitors supports the combination therapy of etanercept and systemic corticosteroids.

Molecular immunology
2025

O01 Infantile bullous pemphigoid: when autoimmunity hides an immunodeficiency.

The British journal of dermatology
2025

P10 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 dermatology
2026

Cheilitis: a comprehensive review and a new clinical classification proposal. Part 1: Isolated cheilitis.

Italian journal of dermatology and venereology
2025

[Clinical Approach to the Patient With Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: Part II].

Revista medica de Chile
2026

Evidence 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 dermatology
2026

Moderate-to-severe atopic dermatitis and systemic corticosteroids are associated with insulin resistance and metabolic syndrome.

JAAD international
2025

Adverse Food Reactions in Dogs and Cats.

The Veterinary clinics of North America. Small animal practice
2025

Drug-induced cutaneous toxicities in solid tumor oncology: mechanisms, manifestations, and management.

Medical oncology (Northwood, London, England)
2025

Paediatric Stevens-Johnson syndrome and toxic epidermal necrolysis: patterns and outcomes in a retrospective Pakistani cohort.

BMJ paediatrics open
2026

Cobalt ion-enhanced chemiluminescence of boron-nitrogen co-doped carbon dots for sensitive detection of cobalt ions and vitamin B12.

Talanta
2026

Topical steroid withdrawal syndrome: developing diagnostic criteria through a modified Delphi method.

The British journal of dermatology
2025

Association of dermatological manifestations with in fertility: A systematic review of literature.

JPMA. The Journal of the Pakistan Medical Association
2025

[Generalised exanthema with abdominal sepsis].

Praxis
2025

Bullous Wells' Syndrome: Case Report and Systematic Review.

Journal of clinical medicine
2025

Ocular administration of brinzolamide leading to Stevens-Johnson syndrome/toxic epidermal necrolysis overlap: A case report and review.

Medicine
2025

Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.

Frontiers in immunology
2026

Ophthalmic complications of radiotherapy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Cutaneous Adverse Effects of EGFR Therapy in Breast Cancer Treatment.

Clinical and translational science
2025

Stevens-Johnson syndrome/toxic epidermal necrolysis induced by tislelizumab: a case report and literature review.

Frontiers in immunology
2025

Yes-associated protein regulates autophagy to restore skin barrier function in atopic dermatitis.

Frontiers in immunology
2026

Severe 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 pharmacy
2026

A Retrospective Cohort Study on the Efficacy of Pregabalin in Patients With Sensitive Skin.

Contact dermatitis
2025

Incidence and clinical patterns, severity and preventability of cutaneous adverse drug reactions among hospitalized patients in a tertiary centre.

The Medical journal of Malaysia
2025

Cheilitis: 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 venereology
2025

Overlap of Toxic Epidermal Necrolysis (TEN)-Like Cutaneous Lupus and Rowell Syndrome in Systemic Lupus Erythematosus: A Case-Based Review.

Cureus
2025

Antisense molecules: A promising new therapy for atopic dermatitis.

Acta pharmaceutica Sinica. B
2025

The role of deer keds (Diptera: Hippoboscidae: Lipoptena and Neolipoptena) in occupational and public health.

Journal of occupational medicine and toxicology (London, England)
2026

Multimorbidity and atopic dermatitis in a population-based cohort: severity-dependent association with distinct nonatopic multimorbidity patterns.

The British journal of dermatology
2026

Comparative 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 dermatology
2026

Mycoplasma pneumoniae-Induced Rash and Mucositis: Clinicopathologic Characterization of 11 Cases.

Journal of cutaneous pathology
2025

Ocular involvement in Stevens-Johnson syndrome and toxic epidermal necrolysis: A review of current management and changing trends.

Indian journal of ophthalmology
2025

Immune Checkpoint Inhibitor-Related Epidermal Necrosis: Terminology, Pathology, and Clinical Implications.

Archives of pathology &amp; laboratory medicine
2025

The therapeutic potential of Astragalus membranaceus in atopic dermatitis: from traditional applications and modern pharmacological research to regulation of the Gut-Skin Axis.

Frontiers in pharmacology
2026

The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.

The journal of allergy and clinical immunology. In practice
2026

Clinical characteristics and management of dupilumab-associated ocular surface disease in Japan.

Japanese journal of ophthalmology
2026

Analysis of clinical characteristics of tislelizumab-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in the Chinese population: a systematic review.

Cutaneous and ocular toxicology
2025

Tislelizumab-associated toxic epidermal necrolysis in an esophageal cancer patient: a case report.

Frontiers in immunology
2025

Chemotherapy-induced hand-foot syndrome among Chinese inpatients: a qualitative descriptive study in Shanghai.

BMJ open
2025

[Acupuncture for chronic eczema of blood deficiency stirring wind: a randomized controlled trial].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

Titel: 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 safety
2025

Apalutamide-induced life-threatening dermatologic toxicity: Clinical histopathological correlations and salvage therapies in four cases: Case report series.

Medicine
2026

Development of an LC-MS/MS method for the quantification of sunitinib and its metabolites in human nail and skin.

Journal of pharmaceutical and biomedical analysis
2025

A real-world drug safety surveillance study from the FAERS database of hepatocellular carcinoma patients receiving durvalumab in combination with tremelimumab.

Frontiers in immunology
2026

Characterization of food protein-induced enterocolitis syndrome among Asian American children.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Management of Patients with Nickel Hypersensitivity Undergoing Patent Foramen Ovale Closure.

Journal of clinical medicine
2026

Recovering From Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.

JAMA dermatology
2026

Successful Use of Tralokinumab in a Pediatric Patient With STAT3 Hyper-IgE Syndrome Following Dupilumab-Associated Conjunctivitis.

International journal of dermatology
2025

LEKTI-Grafted Sunflower Trypsin Inhibitor: A Potential Therapeutic for Skin Diseases.

Journal of medicinal chemistry
2025

A Case of Immunotherapy-Induced Balanitis.

Cureus
2025

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.

Journal of clinical immunology
2026

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.

The Journal of allergy and clinical immunology
2025

Skin-adverse drug reactions in the elderly: An underestimated and avoidable issue.

Annales de dermatologie et de venereologie
2025

Chromophobe renal cell carcinoma with metastatic progression and cabozantinib-induced hand-foot syndrome.

BMJ case reports
2025

Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.

Journal of medical case reports
2026

Epithelial Barrier Diseases Among Adult Patients With Seborrheic Dermatitis.

JAMA dermatology
2026

Pegylated liposomal doxorubicin-induced hand-foot syndrome in a patient with breast cancer: Case report and FAERS database analysis.

International journal of clinical pharmacology and therapeutics
2025

Surgery 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 ophthalmology
2025

Stevens-Johnson syndrome or toxic epidermal necrolysis from antihypertensive medications: A systematic review of cases.

Medicine
2025

Treatment of Refractory Pruritic Dermatitis in the Setting of Primary Biliary Cholangitis and CREST Syndrome With Upadacitinib.

Journal of drugs in dermatology : JDD
2025

Intravenous Lipid Emulsion-Induced Soy Allergy and Atopic Dermatitis in an Infant: A Case Report.

Pediatric allergy, immunology, and pulmonology
2025

A Painful Grip: A Case of Gonococcal Arthritis Masquerading as Wrist Pain.

Cureus
2025

A Case of an Allergic Contact Dermatitis Following the Administration of Enoxaparin: A Case Report and Review of the Literature.

Clinical medicine insights. Case reports
2025

Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.

Acta dermatovenerologica Croatica : ADC
2025

Epiregulin drives keratinocyte hyperproliferation in sorafenib-induced hand-foot skin reaction: A mechanistic and therapeutic insight.

Clinics (Sao Paulo, Brazil)
2025

Psychological Complications of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review and Meta-Analysis.

The Australasian journal of dermatology
2025

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.

Journal of medical case reports
2026

Discovery of a predictive model for anlotinib-induced hand-foot syndrome based on metabolomics.

Journal of pharmaceutical and biomedical analysis
2025

Dermal, respiratory and neurological effects following workplace exposure to diisopropylcarbodiimide.

Clinical toxicology (Philadelphia, Pa.)
2025

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 biology
2025

Ocular manifestations in Stevens‒Johnson syndrome/toxic epidermal necrolysis in cancer patients.

The ocular surface
2025

HLA-B*58:01 and Risk of Allopurinol-Induced Severe Cutaneous Adverse Reactions in the US.

JAMA dermatology
2026

Effective Treatment of Nicolau Syndrome Induced by Etofenamate Injection Using Hyperbaric Oxygen Therapy.

Advances in skin &amp; wound care
2025

Summary of the Best Evidence on Skin-Mucosal Care in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis.

Advances in skin &amp; wound care
2025

Psoriasis in the Context of Dermatologic Disorders: A Comprehensive Overview.

Diseases (Basel, Switzerland)
2026

Toxic Epidermal Necrolysis and Mortality: A Danish Cohort Study With 30 Years of Follow-Up.

The Journal of dermatology
2025

Causation and epidemiological features of proliferative lip and facial lesions in Lao goats.

Tropical animal health and production
2025

Postoperative Staphylococcal Toxic Shock Syndrome in a Patient Following Right Knee Fracture Repair: A Case Report.

Cureus
2026

Cutaneous Manifestations and Dermatologic Adverse Events in IBD: A Clinical Update.

Inflammatory bowel diseases
2025

Severe Toxicities From Definitive Chemoradiotherapy for Oropharyngeal Cancer in a Patient With Comorbid Sjögren's Syndrome.

Cureus
2025

Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab.

The Journal of dermatological treatment
2025

Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.

Cureus
2025

Nocardia in inborn errors in immunity.

Infectious diseases (London, England)
2025

Characterization of Contact Urticaria Syndrome Phenotypes: A Retrospective Study of 95 Cases.

Acta dermato-venereologica
2025

Two-month-old with diffuse erythema: A case report.

SAGE open medical case reports
2025

Dermatologic Conditions Associated With Various Types of Popular Nail Cosmetics: A Systematic Review of Existing Literature and Future Recommendations.

Journal of cosmetic dermatology
2026

[Current dermatology guidelines in Germany: a selection of clinically relevant recommendations].

Dermatologie (Heidelberg, Germany)
2025

Research progress on traditional Chinese medicine compounds in autoimmune-related skin diseases.

Frontiers in immunology
2025

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.

Immunologic research
2026

Biologic therapies for dermatologic emergencies: A comprehensive review.

Journal of the American Academy of Dermatology
2026

The Impact of Bariatric Surgery on the Development and Progression of Dermatologic Diseases: A Narrative Review.

Dermatology and therapy
2025

Prognostic impact of hand-foot skin reaction in regorafenib-treated adult-type diffuse gliomas: A multicenter Turkish Oncology Group study.

Scientific reports
2025

Curcumin in Inflammatory Complications: Therapeutic Applications and Clinical Evidence.

International journal of molecular sciences
2025

Amniotic membrane transplantation techniques in acute ocular Stevens-Johnson syndrome and toxic epidermal necrolysis: A systematic review.

The ocular surface
2025

Relationship Between Chronic Ocular Surface and Meibomian Gland Changes and Clinical Assessment Tool in Cicatricial Conjunctival Diseases.

Ocular immunology and inflammation
2025

Drug-Induced Enterocolitis Syndrome: An Updated Review of Diagnosis and Management.

Journal of investigational allergology &amp; clinical immunology
2025

An infant with drug reaction with eosinophilia and systemic symptoms caused by phenobarbital and amoxicillin: A case report.

Medicine
2025

Epidermal 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
2025

[A CASE OF PEDIATRITIC TOXIC EPIDERMAL NECROSIS TRIGGERD BY OVER-THE-COUNTER EYE DROPS].

Arerugi = [Allergy]
2025

Emerging mycotoxic syndromes in France: Epidemiological trends and public health implications (2015-2022).

Toxicon : official journal of the International Society on Toxinology
2025

Stevens-Johnson syndrome-toxic epidermal necrolysis spectrum reactions to immune checkpoint inhibitor therapy and safety of rechallenge: A retrospective review.

JAAD case reports
2025

Pediatric Stevens-Johnson syndrome and toxic epidermal necrolysis: age-stratified insights from the FAERS database.

Jornal de pediatria
2025

Skin Manifestations in VEXAS Syndrome: Specific Clonal Infiltrates versus Non-Specific Reactive Findings.

Case reports in dermatology
2025

Early-onset Sulzberger-Garbe dermatosis: a rare pediatric case report.

Folia medica Cracoviensia
2025

Multidisciplinary management of antiepileptic drug-induced toxic epidermal necrolysis in a young woman.

Biomedica : revista del Instituto Nacional de Salud
2025

Clinical Outcomes of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Based on Hospital Admission Type.

Cutis
2025

Integrated 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.

Medicine
2025

Chemotherapy-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 oncology
2025

DEFA5-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 immunology
2026

Nickel Allergy Masquerading as Irritable Bowel Syndrome: Case Report.

Journal of the Academy of Nutrition and Dietetics
2025

Clindamycin-Induced Dermatitis and the Sparing Phenomenon: A Case Report.

Cureus
2026

Dual 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
2025

[DRESS syndrome associated with levetiracetam use in a pediatric patient. A case report].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2025

[Autoimmunity in Patients with CTLA-4 Haploinsufficiency].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

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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. Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
    Frontiers in cellular and infection microbiology· 2026· PMID 41847438mais citado
  2. Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.
    Journal of dermatological science· 2026· PMID 41781296mais citado
  3. A case of Stevens-Johnson syndrome triggered by Mycoplasma infection.
    Journal of oral science· 2026· PMID 41548906mais citado
  4. Validation of International Classification of Diseases Codes for Dermatologic Conditions: A Systematic Review.
    JAMA dermatology· 2026· PMID 41499108mais citado
  5. Recovering From Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
    JAMA dermatology· 2026· PMID 41222950mais citado
  6. Excited Skin Syndrome (Angry Back), What Do We Know About It? A Review of the Literature.
    J Cosmet Dermatol· 2026· PMID 41664523recente
  7. Granulomatous mastitis, erythema nodosum, and arthritis syndrome: a narrative review.
    Front Immunol· 2025· PMID 41438764recente
  8. Characterization of food protein-induced enterocolitis syndrome among Asian American children.
    Ann Allergy Asthma Immunol· 2026· PMID 41232832recente
  9. Characterization of Contact Urticaria Syndrome Phenotypes: A Retrospective Study of 95 Cases.
    Acta Derm Venereol· 2025· PMID 41123357recente
  10. Drug-Induced Enterocolitis Syndrome: An Updated Review of Diagnosis and Management.
    J Investig Allergol Clin Immunol· 2025· PMID 41089058recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:83617(Orphanet)
  2. OMIM OMIM:610483(OMIM)
  3. MONDO:0012508(MONDO)
  4. GARD:10011(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Síndrome de agamaglobulinemia-microcefalia-craniossinostose-dermatite grave

ORPHA:83617 · MONDO:0012508
🇧🇷 Brasil SUS
Triagem
KREC (Kappa-deleting Recombination Excision Circles)
PNTN
Fase 4
Incidência BR
1:200.000
Geral
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
CID-11
Início
Antenatal, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1864848
Repurposing
5 candidatos
adelmidrolanti-inflammatory agent
clobetasone-butyratecorticosteroid agonist
crisaborolephosphodiesterase inhibitor
+2 outros
Wikidata
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