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Features include always present findings: Increased circulating IgE concentration, Malabsorption, Hypoalbuminemia, and Orthokeratosis and others; and common findings: Eosinophilic infiltration of the esophagus, Sparse hair, Pulmonic stenosis, and Microcephaly and others. 23 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Psoriasiform dermatitis, Recurrent skin infections, Dry, scaly skin (ichthyosis) |
Growth and development | 3 | Failure to thrive, Reduced circulating growth hormone concentration, Growth delay |
Digestive system | 2 | Malabsorption, Eosinophilic infiltration of the esophagus |
Blood and immune system | 2 | Recurrent skin infections, Recurrent respiratory infections |
Lab test results | 1 | Increased circulating IgE concentration |
Head and neck | 1 | Microcephaly |
Brain and nerves | 1 | Global developmental delay |
Hormones | 1 | Reduced circulating growth hormone concentration |
Heart and blood vessels | 1 | Multiple muscular ventricular septal defects |
Muscles | 1 | Multiple muscular ventricular septal defects |
Lungs and breathing | 1 | Recurrent respiratory infections |
Age of onset: at birth.
DSG1 encodes desmoglein 1 (1,049 aa). Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion Highest expression in Skin Sun Exposed Lower leg (513.0 TPM) and Skin Not Sun Exposed Suprapubic (400.9 TPM).
Severe dermatitis-multiple allergies-metabolic wasting syndrome is associated with mutations in the DSG1 gene on chromosome 18.
The DSG1 protein participates in Keratinocyte of spinosum layer differentiates into keratinocyte of granulosum layer in interfollicular epidermis and Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathways.
DSG1 is classified as a druggable target with score 1.3.
Genetic testing for DSG1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 15 always present features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for severe dermatitis-multiple allergies-metabolic wasting syndrome.
9 publications have been identified in PubMed for severe dermatitis-multiple allergies-metabolic wasting syndrome. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (11%).
Metze D (2026). [PMID: 42029647](https://pubmed.ncbi.nlm.nih.gov/42029647/). *Dermatopathology (Basel)*. [Basic Science / Preclinical]
Rossel VSVJ (2026). [PMID: 41781296](https://pubmed.ncbi.nlm.nih.gov/41781296/). *Journal of dermatological science*. [Basic Science / Preclinical]
Ahmed S (2025). [PMID: 40878888](https://pubmed.ncbi.nlm.nih.gov/40878888/). *The Journal of dermatology*. [Case Report / Case Series]
Bochnig O (2025). [PMID: 39936550](https://pubmed.ncbi.nlm.nih.gov/39936550/). *Journal of the European Academy of Dermatology and Venereology : JEADV*. [Clinical Trial Publication]
Balan BK (2025). [PMID: 39644136](https://pubmed.ncbi.nlm.nih.gov/39644136/). *Pediatric dermatology*. [Review / Meta-Analysis]
Yang J (2025). [PMID: 40207438](https://pubmed.ncbi.nlm.nih.gov/40207438/). *Experimental dermatology*. [Case Report / Case Series]
Cao Q (2024). [PMID: 37768788](https://pubmed.ncbi.nlm.nih.gov/37768788/). *Dermatitis : contact, atopic, occupational, drug*. [Case Report / Case Series]
Comert M (2024). [PMID: 39119299](https://pubmed.ncbi.nlm.nih.gov/39119299/). *Indian journal of dermatology*. [Case Report / Case Series]
Singh S (2024). [PMID: 38240109](https://pubmed.ncbi.nlm.nih.gov/38240109/). *Clinical and experimental dermatology*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center