2026, Number 2
Systemic mastocytosis with extensive cutaneous manifestations: case report
Lerma-Heredia, Sandra; Maldonado-Domínguez, Edwin-Daniel; Arroyo-Jaramillo, Sergio-Eduardo; Campillo-González, Raúl-Sergio; Álvarez-Cabrera, Diana-Jazmín; Carreón-Simental, Frida-Alejandrina; Lerma-Heredia, Alejandra; Ávila-Olivas, Alejandro
Full text
Language: Spanish
References: 13
Page: 230-236
PDF size: 318.15 Kb.
ABSTRACT
Systemic mastocytosis (SM) is a clonal neoplasm driven by activating mutations in the KIT receptor (CD117). It is characterized by the pathological proliferation of mast cells in the skin and extracutaneous organs, primarily the bone marrow. Clinical manifestations include hyperpigmented macules and papules, accompanied by pruritus and other systemic symptoms mediated by the release of histamine and other mast cell-derived mediators. With an estimated prevalence of 5.2 to 7 cases per million, SM is associated with mutations—most commonly KIT D816V—that lead to ligand-independent activation of the receptor. This activation also stimulates melanocyte proliferation and melanogenesis via the C-KIT pathway, resulting in the characteristic hyperpigmentation of cutaneous lesions. We report a 63-year-old patient diagnosed with systemic mastocytosis who presented with a disseminated dermatosis and symptoms of mast cell degranulation, alongside bone marrow myeloproliferation. Following clinical suspicion of cutaneous involvement, a diagnostic protocol was initiated, ultimately confirming a systemic condition. This case underscores the complexity of diagnosing and managing this rare and multifaceted pathology.REFERENCES