Introduction

Cutaneous mastocytosis is a skin disorder characterized by abnormal mast cell accumulation. The KIT D816V mutation plays a key role in cutaneous mastocytosis pathogenesis and limits the use of tyrosine kinase inhibitors. Early diagnosis is challenging due to its resemblance to other skin conditions.

Case report

A male newborn presented with widespread blisters, erythema, tachycardia, hypotension, and hypoxia. Despite treatment with steroids and antihistamines, symptoms persisted. Genetic testing confirmed KIT D816V mutation in the skin, excluding imatinib therapy. Other treatment options were attempted without success. Finally, vinblastine, a vinca alkaloid, was administered, leading to resolution of symptoms.

Conclusions

Molecular diagnostics are crucial for selecting appropriate treatment in cutaneous mastocytosis. Identifying patients with KIT D816V mutation helps tailor the therapy, as uncommon KIT mutations present significant therapeutic challenges. When standard treatments fail, alternative strategies such as vinblastine should be considered. This case highlights the need for individualized treatment approaches in cutaneous mastocytosis.