Last update 08 May 2025

SAM syndrome

Basic Info

Synonyms
Congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome, Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, EPKHE
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Introduction
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.

Analysis

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