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Mastocytosis is characterized by the accumulation of mast cells in one or more organ systems, including the skin, bone marrow, liver, spleen, and gastrointestinal tract. Three subtypes are documented in this packet: systemic mastocytosis, cutaneous mastocytosis, and an aggressive subtype. No heritable causative gene variants or inheritance patterns are documented in this packet.
Characteristic findings documented in this packet include cutaneous telangiectasia, multiple nevi, pigmented skin lesions, and keratosis pilaris, all with frequency data. Urticaria pigmentosa is documented as an associated presentation.
No heritable causative gene variants or Mendelian inheritance patterns are documented in this packet. The condition arises from clonal mast cell proliferation.
Diagnostic criteria are not established in this packet's structured fields.
Three FDA-approved therapies with active market status are documented in this packet: avapritinib (brand name AYVAKIT, NDA June 2021); midostaurin (brand name RYDAPT, NDA April 2017; note: the packet's generic_name field for this entry contains the brand name rather than the INN, which appears to be a data field error); and cromolyn sodium (brand name GASTROCROM, NDA November 1996).
23 trials found
Prognostic data are not established in this packet. The condition spans a spectrum from indolent to more advanced forms as reflected in the documented subtypes.
One recruiting clinical trial is documented in this packet: NCT06940037, a Phase 2 study sponsored by Cogent Biosciences, Inc., with enrollment beginning October 2024 and planned completion October 2026.
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC
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AI-curated news mentioning mastocytosis
Updated Aug 28, 2026
A 15-year study on pediatric mastocytosis reveals critical insights into its clinicopathological features and prognosis, emphasizing disease evolution. This research contributes to understanding the long-term outcomes and management strategies for affected children.
A recent study published in PubMed reveals that low bone mineral density (BMD) is uncommon in pediatric patients with mastocytosis. This DEXA-based cohort study provides new insights into the skeletal health of children affected by this rare disease.