Systemic mastocytosis with telangiectatic cutaneous manifestations: a case report

Abstract

Introduction :
Telangiectatic cutaneous manifestations associated with mastocytosis are rare and may pose a diagnostic challenge because of their non-specific clinical presentation and the possible paucity of mast cell infiltrates on histological examination.

Observation :
We report the case of a 35-year-old woman with cutaneous lesions evolving for 10–11 years and initially diagnosed as urticaria following a skin biopsy performed in 2018. Six years later, clinical and histopathological reassessment showed findings compatible with telangiectatic cutaneous mastocytosis. The extension work-up showed an elevated baseline serum tryptase level of 105 µg/L, bone marrow mast cell infiltration with multifocal dense aggregates of more than 15 mast cells, and suggestive osseous findings on computed tomography. Although CD25, CD2 and CD30 immunostaining, bone marrow tryptase staining, and flow cytometry were unavailable, systemic mastocytosis was retained on the basis of one major marrow criterion associated with one minor biological criterion.

Conclusion :
This case underscores the importance of a multidisciplinary diagnostic strategy for rare mast cell disorders in adults.