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c-KIT-Positive Fatal Diffuse Cutaneous Mastocytosis With Systemic Manifestations in a Neonate

Chaudhary, Neha MD*; Shapiro, Natasha MD; Bhutada, Alok MD*; Rastogi, Shantanu MD, MMM*

Journal of Pediatric Hematology/Oncology: July 31, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001271
Clinical and Laboratory Observations: PDF Only

Diffuse cutaneous mastocytosis is a rare variant of mastocytosis in the neonatal period. We describe a case of c-KIT (D816V) mutation-positive fatal diffuse cutaneous mastocytosis with systemic involvement of the gastrointestinal tract and associated malabsorption and hepatosplenomegaly associated with mast cell mediator release symptoms.

*Department of Neonatology, Maimonides Medical Center, Brooklyn

Department of Neonatology, NYU Langone Medical Center, New York, NY

This case report has been exempt by Maimonides Medical Center IRB.

The authors declare no conflict of interest.

Reprints: Shantanu Rastogi, MD, MMM, Maimonides Infant and Children’s Hospital, 4802 Tenth Ave, F-119, Brooklyn, NY 11219 (e-mail:

Received January 24, 2018

Accepted June 29, 2018

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