U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Severe dermatitis-multiple allergies-metabolic wasting syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Synonyms
ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, RECURRENT INFECTIONS, AND MULTIPLE FOOD ALLERGIES; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige; SAM SYNDROME; SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. [from SNOMEDCT_US]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1, DSG1
    Summary: desmoglein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.