Severe Congenital Cutaneous Mastocytosis with KIT D816V
Mutation in the Skin Treated with Vinblastine

Anna Zielińska; Izabela Staniszewska; Zuzanna Tomaszewska; Ksawery Szlęzak; Dorota Bulsiewicz

doi:10.5114/dr.2025.158598

eISSN: 2084-9893
ISSN: 0033-2526

Dermatology Review/Przegląd Dermatologiczny

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5/2025
vol. 112

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Opis przypadku

Severe Congenital Cutaneous Mastocytosis with KIT D816V Mutation in the Skin Treated with Vinblastine

Anna Z. Zielińska

¹

,

Izabela Staniszewska

¹

,

Zuzanna M. Tomaszewska

¹

,

Ksawery Szlęzak

¹

,

Dorota Bulsiewicz

²

Medical University of Warsaw, Poland
Children's Memorial Health Institute, Warsaw, Poland

Dermatol Rev/Przegl Dermatol 2025, 112, 321-326

DOI: https://doi.org/10.5114/dr.2025.158598

Data publikacji online: 2025/12/30

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Metryki PlumX:

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.

Indeks osobowy

Severe Congenital Cutaneous Mastocytosis with KIT D816V Mutation in the Skin Treated with Vinblastine

Anna Z. Zielińska 1 , Izabela Staniszewska 1 , Zuzanna M. Tomaszewska 1 , Ksawery Szlęzak 1 , Dorota Bulsiewicz 2

Anna Z. Zielińska

¹

,

Izabela Staniszewska

¹

,

Zuzanna M. Tomaszewska

¹

,

Ksawery Szlęzak

¹

,

Dorota Bulsiewicz

²