Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige (EPKHE)

Alias:

Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome

Sam Syndrome

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige

Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome

Epkhe

Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige, also known as severe dermatitis-multiple allergies-metabolic wasting syndrome, is related to palmoplantar keratosis and hypotrichosis. An important gene associated with Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Programmed Cell Death and Keratinization. Affiliated tissues include skin and brain, and related phenotypes are failure to thrive and global developmental delay

Related ID：

MALACARDS：ERY061

OMIM：615508

MESH：D003873