title: Lentiginoses in polycythemia vera patient: Is there a role for JAK2 (V617F) mutation?
abstract: Lentiginoses is a clinical feature in which lentigines are remarkably present in large numbers or when they occur in a distinctive distribution on apparently normal skin. This entity may be congenital or acquired and may cover a wide spectrum of diseases ranging from an isolated benign pigmentary disorder to numerous syndromes associated with molecular abnormalities.We present a 59-year-old female patient with multiple lentigines which first emerged 3 y ago concurrently with policytemia vera. The patient had found to be positive for Janus Kinase-2 (JAK-2) mutation. Over activation of the pathway due to JAK-2 V617F mutation is a well-known condition in myeloproliferative diseases but has not been reported in melanocytic disorders. Moreover, several signaling pathways have previously been defined with lentiginosis except JAK-STAT pathway. We want to draw attention to the potential effect of JAK-2 mutation in lentigogenesis with this case report.
authors.affiliation: Faculty of Medicine; Department of Dermatology and Venerology; Istanbul Medeniyet University ; Istanbul, Turkey.
authors.forename: Tugba Kevser
authors.initials: TK
authors.lastname: Uzuncakmak
authors.affiliation: Faculty of Medicine; Department of Medical Genetics; Istanbul Medeniyet University ; Istanbul, Turkey.
authors.forename: Sarenur
authors.initials: S
authors.lastname: Yilmaz
authors.affiliation: Faculty of Medicine; Department of Dermatology and Venerology; Istanbul Medeniyet University ; Istanbul, Turkey.
authors.forename: Ayse Serap
authors.initials: AS
authors.lastname: Karadag
authors.affiliation: Faculty of Medicine; Department of Dermatology and Venerology; Istanbul Medeniyet University ; Istanbul, Turkey.
authors.forename: Necmettin
authors.initials: N
authors.lastname: Akdeniz
authors.affiliation: Faculty of Medicine; Department of Medical Genetics; Istanbul Medeniyet University ; Istanbul, Turkey.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Akalin
keywords: Janus-kinase 2; Polycythemia vera; lentiginosis; tyrosine kinase