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DSG1-sEDD

Previously: Severe dermatitis, allergic reactions, metabolic wasting (SAM syndrome)

sEDD Gene: DSG1 AR
Onset: Birth
Pathway: Structural proteins
Category Paper: sEDD Paper
DSG1-sEDD: superficial desquamation revealing underlying erythema on the legs of a young girl.

DSG1-sEDD: superficial desquamation revealing underlying erythema on the legs of a young girl.

Key Clinical Clues

Erythroderma with thickened, fragile skin; PPK; recurrent skin infections.

Additional Cutaneous Features

PPK may be striate.

Additional Extracutaneous Features

Failure to thrive; high IgE levels; allergies; recurrent respiratory infections.

Treatment

SC injection of biologics targeting IL-12/IL-23 or IL-17A (Hernández-Martin, 2019; Godsel, 2022).

References

Polivka L, Hadj-Rabia S, Bal E et al. Epithelial barrier dysfunction in desmoglein-1 deficiency. J Allergy Clin Immunol 2018; 142:702-6. || Samuelov L, Sarig O, Harmon RM et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 2013; 45:1244-8.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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