Secukinumab for the treatment of SAM syndrome associated wit
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Treating patients with genodermatoses is challenging because of the chronic disease course and of limited available therapies. The efficacy of secukinumab for the treatment of a genodermatosis caused by biallelic loss-of-function mutations in the desmoglein 1 gene (DSG1), the SAM syndrome is reported. The SAM syndrome comprises severe dermatitis, multiple allergies and metabolic wasting and it can manifest as ichthyosiform erythroderma at birth.

A female in her 20’s had been diagnosed in the neonatal period with atopic dermatitis, that continued during infancy when her weight was below the 3rd percentile. She had severe palmoplantar keratoderma and disseminated dermatitis, manifesting with erythema and lichenified plaques, accompanied by severe pruritus, and multiple food allergies. She developed recurrent flares of erythroderma, but was otherwise in a good general condition without growth retardation or metabolic wasting.

For a long time, cutaneous manifestations were satisfactory treated with topical calcineurin inhibitors and intensive skin care consisting of daily bathing with antiseptics and application of emollients at least twice a day. Palmoplantar keratoderma was alleviated with potent keratolytics and mechanical removal every three weeks. A systemic therapy with cyclosporin A 100 mg/daily, was administered leading to amelioration of cutaneous manifestations, whereas pruritus did not improve. After 6 months, patient reported an increased feeling of hunger and subsequent weight gain. Following another 3 months, severe headaches occurred ultimately leading to withdrawing the medication and deterioration of the skin condition.

Immunohistochemical staining for IL-17A of the patient’s skin revealed increased numbers of IL-17A positive cells, similar to psoriasis affected skin. Off-label therapy with the antibody Secukinumab was initiated. The patient received two subcutaneous injections of Secukinumab, 150 mg each, once a week for five weeks, followed by monthly administrations. The skin condition dramatically improved three weeks after treatment initiation. The patient was continued on biologic at the moment of twelve months follow-up and remained stable. Importantly, the intensity of the pruritus decreased from 8-9 to 0 on a numeric scale from 0 to 10.

Since her skin appeared almost normal without any redness, she did not require topical treatments except of emollients once daily for dryness. Even palmoplantar keratoderma became less prominent during this treatment. No clinical or laboratory adverse effects were registered.