Systemic Mastocytosis

Systemic Mastocytosis

Key Takeaways Systemic Mastocytosis is a clonal myeloproliferative neoplasm characterized by the abnormal accumulation of neoplastic mast cells in extracutaneous organs, most commonly the bone marrow. Molecular Driver ▾: The KIT D816V somatic mutation is the...
Acute Intermittent Porphyria – AIP

Acute Intermittent Porphyria – AIP

Key Takeaways Acute Intermittent Porphyria or AIP is an autosomal dominant hepatic disorder causing acute neurovisceral crises without cutaneous symptoms. Etiology ▾: HMBS gene mutations triggered by porphyrinogenic drugs, progesterone, or caloric restriction....
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