Severe dermatitis-multiple allergies-metabolic loss syndrome Q80.9

The "Severe Dermatitis-Multiple Allergies-Metabolic Loss Syndrome" (SAM syndrome) is an extremely rare (only 3 families have been described) genodermatosis. It is characterized by missense mutations occurring in the desmoglein-1 gene (but also in the desmoplakin gene/McAleerMA et al. 2015).

Clinically in the foreground is a pronounced ichthyosiform erythroderma already existing at birth. In addition to chronic cutaneous inflammation(severe dermatitis), transcutaneous sensitization with multiple allergies and severemetabolic wasting occur.

Furthermore, the syndrome is characterized by recurrent skin and respiratory infections and hypotrichosis. In contrast to the clinically related Netherton syndrome in which palmo-plantar keratoses are absent, they are present in SAM syndrome.

The clinical picture has a prevalence <1 / 1 000 000.

Recently, the IL-17 antibody secukinumab was described as a successful treatment for SAM syndrome (Cao Q et al. 2023).

1. Cao Q et al. (2023) Successful Treatment of SAM Syndrome With Secukinumab Monotherapy: A Case Report of a 16-Month-Old Infant. Dermatitis. doi: 10.1089/derm.2023.0222.
2. Dereure O (2015) Homozygous desmoglein 1 gene mutations and severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome) Ann Dermatol Venereol 142:798-799.
3. McAleer MA et al. (2015) Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol 136:1268-1276.
4. Pan C et al. (2021) Deep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family. Eur J Dermatol 31:239-244.
5. Samuelov L et al. (2014) Peeling off the genetics of atopic dermatitis-like congenital disorders.J Allergy Clin Immunol 134:808-815.