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Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
Whitney Eng1, Christopher L Sudduth2, Dennis J Konczyk2
1Division of Hematology and Oncology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Abstract:
Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4 We report two individuals with Parkes Weber syndrome of the leg and primary lymphedema containing a somatic KRAS variant (NM_004985.5:c.35G > A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations.
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