title: Atypical retiform hemangioendothelioma arising in a patient with Milroy disease: a case report and review of the literature.
abstract: Retiform hemangioendothelioma (RH) is a rare vascular neoplasm with a high rate of local recurrence and low metastatic potential. We describe an unusual case of RH in a 45-year-old patient with Milroy disease, with a prominent solid component diffusely involving a chronic lymphedematous leg. This case is consistent with the postulated relationship between lymphedema and vascular neoplasms developing as a result of local immune dysfunction, and highlights the need to closely monitor patients with Milroy disease for pathologic changes. Our case highlights a unique example of RH with atypical features. There are several noteworthy unusual clinical and histologic findings including diffuse involvement of an entire limb, solid component with cytologic atypia, D2-40 expression, and first-time-reported association with Milroy disease. Given the atypical histologic presentation of cytologic atypia, solid areas and atypical immunohistochemical profile with D2-40 positivity, this case could cause diagnostic difficulty, especially in the setting of such a broad clinical differential.
authors.affiliation: Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Aileen Grace P
authors.initials: AG
authors.lastname: Arriola
authors.affiliation: Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Laura A
authors.initials: LA
authors.lastname: Taylor
authors.affiliation: Clinical observer and research fellow, Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Eseosa
authors.initials: E
authors.lastname: Asemota
authors.affiliation: Department of Pediatrics (Dermatology), University of Washington, Seattle, WA, USA.
authors.forename: Markus D
authors.initials: MD
authors.lastname: Boos
authors.affiliation: Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: David E
authors.initials: DE
authors.lastname: Elder
authors.affiliation: Department of Orthopaedic Surgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Kristy L
authors.initials: KL
authors.lastname: Weber
authors.affiliation: Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Robert G
authors.initials: RG
authors.lastname: Micheletti
authors.affiliation: Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Zhang
mesh_terms: D005260:Female; D006390:Hemangioendothelioma / Q000473:pathology*; D006801:Humans; D008209:Lymphedema / Q000150:complications*; D008875:Middle Aged; D012878:Skin Neoplasms / Q000473:pathology*; D019043:Vascular Neoplasms / Q000473:pathology*
keywords: Milroy disease; chronic lymphedema; retiform hemangioendothelioma; vascular neoplasm