Adult-onset cutaneous mastocytosis in monozygotic twins

Abstract

(mean age 42 years). 4 In our presentation of monozygotic twins, genetic influences were identical and the environmental influences were very similar, except for the intake of hydroxyurea for essential thrombocytosis by the twin with squamous dysplasia.The patient presented is case-controlled by her monozygotic twin, with the one important difference between them being the long-term use of hydroxyurea. This therefore provides further evidence for hydroxyurea causing cutaneous squamous dysplasia.

Adult-onset systemic mastocytosis in monozygotic twins with KIT D816V and JAK2 V617F mutations

“…2 Familial occurrence of cutaneous mastocytosis is on the other hand well described, including rare case reports in twins. 3,4 In most of these cases, it has not been possible to demonstrate any primary genetic defect and only few reports exist on germline KIT mutations in familial cutaneous mastocytosis. 5 Bodemer et al 6 in 2010 reported the finding of somatic KIT D816V mutations in 2 brothers with cutaneous mastocytosis without evidence of a germline mutation.…”