Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa - Abstract
Congenital leukemia is a rare disease with particular biological and clinical characteristics, which differs from those of older children. Its prognosis is
generally poor. Its clinical manifestation may vary (hyperleukocytosis, thrombocytopenia, organomegaly) and some patients can develop cutaneous infiltration
by leukemic cells (leukemia cutis). We describe a dysmorphic patient with thrombocytopenia hiding a congenital leukemia with fatal outcome. At birth he
presented cutis laxa, multiple dysmorphic, thrombocytopenia and hepatosplenomegaly, initially orienting towards the diagnosis of a syndrome. Afterwards,
pancytopenia and coagulopathy led to the diagnosis of congenital leukemia. His clinical features didn’t fit with any of the syndromes described in literature
as associated with an increased risk of leukemia (i.e. Down syndrome, Fanconi’s anemia). This suggests a possible new association between a severe neonatal
leukemia cutis and a dysmorphic syndrome characterized by cutis laxa (i.e. TALDO deficiency?).