Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa

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?).