ORPHA:369992
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Also known as: Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
170
70.3th percentile
Trials
0
Interventional, condition-specific
Researchers
913
Distinct authors in sample
Gene link
DSG1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic epidermal disorder characterized by erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and wasting. Other variable features may include hypotrichosis, nail , recurrent infections, mild global , eosinophillia, nystagmus, growth impairment and cardiac defects.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014218
- OMIM:615508
- UMLS:C3809719
Additional Mondo synonyms (2)
congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — DSG1
- LiteraturePresent
170 matched papers (126 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (DSG1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
170
170 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
170 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
126 in the last 10 years · high confidence · 70.3th percentile (publications denominator)
Phrase hits: 170 · MeSH hits: 0
Who's working on it?
913
Distinct author names in 170 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Green KJ21 papers · 2024
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Papers in Europe PMC - 02Koetsier JL12 papers · 2023
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Papers in Europe PMC - 03Rothenberg ME11 papers · 2025
Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Papers in Europe PMC - 04Godsel LM9 papers · 2023
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Ill; Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Ill.
Papers in Europe PMC - 05Broussard JA8 papers · 2022
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Papers in Europe PMC - 06Fischer J7 papers · 2026
Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.
Papers in Europe PMC - 07Sprecher E7 papers · 2022
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 08Hegazy M6 papers · 2022
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA; email: marihan.hegazy@northwestern.edu, abbey.perl@northwestern.edu, sophia.svoboda@northwestern.edu, kgreen@northwestern.edu.
Papers in Europe PMC - 09Johnson JL6 papers · 2023
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Papers in Europe PMC - 10Kowalczyk AP5 papers · 2024
Department of Cell Biology, Emory University School of Medicine, Atlanta, GA 30322.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Severe dermatitis-multiple allergies-metabolic wasting syndrome" OR "Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" OR "SAM syndrome" OR "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe dermatitis-multiple allergies-metabolic wasting syndrome" OR "Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" OR "SAM syndrome" OR "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" OR "DSG1"
Recall-expansion terms: DSG1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:52:08.486Z