Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis

Iris M Otani; Ryan W Carroll; Phoebe Yager; Daniela Kroshinsky; Sarah Murphy; Jason L Hornick; Cem Akin; Mariana Castells; Jolan E Walter

doi:10.1002/ccr3.1607

Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis

Clin Case Rep. 2018 Jul 31;6(9):1834-1840. doi: 10.1002/ccr3.1607. eCollection 2018 Sep.

Authors

Iris M Otani¹, Ryan W Carroll², Phoebe Yager², Daniela Kroshinsky³, Sarah Murphy², Jason L Hornick⁴, Cem Akin^{5

6}, Mariana Castells^{5

6}, Jolan E Walter^{7

8}

Affiliations

¹ Division of Pulmonary, Critical Care, Allergy, and Sleep Medicine UCSF Medical Center San Francisco CA USA.
² Division of Pediatric Critical Care Medicine Department of Pediatrics MassGeneral Hospital for Children Boston MA USA.
³ Department of Dermatology Massachusetts General Hospital MassGeneral Hospital for Children Boston MA USA.
⁴ Department of Pathology Brigham and Women's Hospital Boston MA USA.
⁵ Mastocytosis Center Brigham and Women's Hospital Boston MA USA.
⁶ Division of Rheumatology, Immunology and Allergy Brigham and Women's Hospital Boston MA USA.
⁷ Pediatric Allergy & Immunology Massachusetts General Hospital Boston MA USA.
⁸ Center for Immunology and Inflammatory Diseases Massachusetts General Hospital Boston MA USA.

Abstract

Diffuse cutaneous mastocytosis (DCM) is a rare but potentially fatal condition when diagnosis and targeted treatments are delayed. This case illustrates the life-threatening complications in DCM and reviews the currently available treatments. To our knowledge, this is the first report of mastocytosis with somatic K509I mutation and concomitant tuberous sclerosis.

Keywords: K509I; blistering rash; diffuse cutaneous mastocytosis; tryptase; tuberous sclerosis.

Publication types

Case Reports