International Journal of Rare Diseases & Orphan Drugs Cite this article: Dini F, Tuoni C, Vannozzi I, Toschi B, Alberti E, Nardi M, Bertini V, Valetto A, Giampietri M, Vuerich M, Ciantelli M, Boldrini A, Ghirri P (2017) Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa. Int J Rare Dis Orphan Drugs 2(1): 1005 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 infltration 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 ft 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 defciency?). Keywords • Leukemia • Cutis laxa • Newborn • Thrombocytopenia • Dysmorphic features *Corresponding author Francesca Dini, Division of Neonatology and Neonatal Intensive Care Unit, Pisa, Italy Tel: +39-050-992654; Fax: +39-050-992611 Email: francesca.dini@hotmail.com Submitted: 23 January 2017 Accepted: 13 March 2017 Published: 06 April 2017 Copyright: © 2017 Dini et al. OPEN ACCESS Case Report Neonatal leukemia cutis presenting with dysmorphic features and cutis laxa Francesca Dini 1*† , Cristina Tuoni 1† , Ilaria Vannozzi 1† , Benedetta Toschi 2 , Elisabetta Alberti 3 , Margherita Nardi 3 , Veronica Bertini 4 , Angelo Valetto 4 , Matteo Giampietri 1 , Marco Vuerich 1 , Massimiliano Ciantelli 1 , Antonio Boldrini 1 , Paolo Ghirri 1 1 Department of Maternal and Child Health, Division of Neonatology and Neonatal Intensive Care Unit, Santa Chiara University Hospital of Pisa, Italy 2 Department of Clinical Medicine, Santa Chiara University Hospital of Pisa, Italy 3 Department of Maternal and Child Health, Division of Pediatric Onco-Hematology, Santa Chiara University Hospital of Pisa, Italy 4 Department of Medicine of Laboratory, Laboratory of Cytogenetic, Santa Chiara University Hospital of Pisa, Italy † These authors have contributed equally INTRODUCTION Leukemia is the most frequent malignancy in childhood. The majority of cases are acute myeloid leukemia, while lymphoblastic leukemia most often is on B cell lineage [1]. Leukemia may cause significant coagulopathy, putting the patient at risk of intracranial haemorrhage [2]. Congenital leukemia is a rare disease (<1% of all leukemia in childhood). This particular type of leukemia has peculiar findings that differ from those of older children. The clinical presentation may vary. The newborns may present the classic findings of hyperleukocytosis associated with hepato-splenomegaly, or can present purplish nodules as initial manifestation (leukemia cutis). Approximately 10% of patients present cutaneous leukemia without bone marrow involvement (aleukemic leukemia cutis) [3,4]. The majority of congenital leukemia are associated with cytogenetic disorders that often involve rearrangements of the mixed lineage leukemia (MLL) gene (11q23): gene translocations give rise to fusion proteins that increase the expression of genes encoded for transcription factors involved in haematopoiesis. The presence of MLL translocations leads to aggressive acute leukemia with extremely poor prognosis [3,5]. An association has been described between leukemia and some inherited conditions such as Down syndrome, neurofibromatosis, Bloom’s syndrome, Fanconi’s anemia [6] and Wiskott-Aldrich syndrome [7]. CASE PRESENTATION We report the case of a full-term male newborn delivered from a mother affected by unspecified thrombocytopenia. The antenatal period was uneventful, except for intra-uterine growth restriction (IUGR). He was the first born of healthy parents, with uncertain consanguinity. The five-minute Apgar score was Abbreviations: MLL: Mixed Lineage Leukemia; IUGR: Intra-uterine Growth Restriction; PTL: Platelets; WBC: White Blood Cells; Hb: Haemoglobin; EBV: Ebstein Barr Virus; HSV: Herpes Simplex Virus; CMV: Cytomegalovirus; RBC: Red Blood Cells; Hct: Haematocrit; IVIG: Intravenous Immunoglobulin; AST: Aspartate Trans- aminase; ALT: Alanine Transaminase; GGT: Gamma-glutamyltransferase; LDH: Lactate Dehydrogenase; aPTT: Activated Partial Thromboplastin Time; TORCH: Toxoplasmosis, Others, Rubella, Cytomegalovirus, Herpes Simplex