SMAD4 and cutaneous mastocytosis: The presentation of symptoms solely during pregnancy was similarly seen in another study where the patient harbored a deletion mutation (c.2927del) in the latter part of the RASA1 protein as well, which resulted in a frame shift.21 The patient tested negative for mutations in ENG, ACVRL1 and SMAD4. Interestingly, the authors noted that the patient had features not typically associated with CM–AVM such as pulmonary capillary level microvascular shunting, similar to our described patient.