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sweet syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sweet syndrome

MONDO:0011959

Also known as:acute febrile neutrophilic dermatosisAfndGomm button disease

Find Clinical TrialsTrials

Overview

Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.

GeneticsAutosomal dominant · MEFV (chr 16)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Arthralgia, Cystic acne, and Myalgia; and very common findings: Pyoderma gangrenosum, Elevated CRP (inflammation marker) (elevated circulating c-reactive protein concentration), Recurrent fever, and Pain and others. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Small vessel vasculitis, Low red blood cell count (anemia), Predominantly dermal neutrophilic infiltrate

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MEFV encodes MEFV innate immunity regulator, pyrin (781 aa). Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Highest expression in Whole Blood (81.4 TPM) and Spleen (19.9 TPM).

Sweet syndrome is associated with mutations in the MEFV gene on chromosome 16.

MEFV is classified as a druggable target (B30 2 Spry Domain and Druggable Genome categories) with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Familial Mediterranean fever (FMF) should be suspected in individuals with the following:

Recurrent febrile episodes accompanied by peritonitis, synovitis, or pleuritis
Recurrent erysipelas-like erythema
Repeated laparotomies for "acute abdomen" with no pathology found

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for sweet syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with familial Mediterranean fever (FMF), the following evaluations are recommended:

Physical examination to assess joint problems

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

All individuals with FMF including those not currently being treated, those being treated with colchicine, and those receiving medication other than colchicine should undergo an annual physical examination, a urine spot test for protein, and an evaluation for hematuria . additionally recommended monitoring acute-phase reactants (ESR and fibrinogen levels) at regular intervals during attack-free periods, particularly in those with the p.Met694Val pathogenic variant.

Source: GeneReviews — "Familial Mediterranean Fever"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

174 publications have been identified in PubMed for sweet syndrome. Kisho has analyzed 72 by research type. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (36%), and Other (7%).

Research Type	Count	% of Total
Patient case studies	34	47%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 12:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608068

Orphanet

European rare disease database

Orphanet:3243

GARD

Genetic and Rare Diseases Info Center

GARD:521

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for MEFV, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

sweet syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Concomitant oral and genital mucosal involvement in classical Sweet syndrome.

Ulcerative Colitis in a Patient With Auricular Chondritis and Sweet Syndrome: A Rare Case.

A rare case of acute generalized exanthematous pustulosis-like Sweet syndrome.

sweet syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Concomitant oral and genital mucosal involvement in classical Sweet syndrome.

Ulcerative Colitis in a Patient With Auricular Chondritis and Sweet Syndrome: A Rare Case.

A rare case of acute generalized exanthematous pustulosis-like Sweet syndrome.