title: ["Blueberry muffin baby"].
abstract: BACKGROUND
  Blueberry muffin baby is a characteristic neonatal syndrome characterized by multiple dark-bluish skin nodules. The clinical significance and prognosis of this syndrome are variable.
  
  
  METHODS
  A male child was born to non-consanguinous parents. At birth, a polymalformative syndrome associated macrostomy, bilateral cryptochidy and hexadactyly. There were also about twenty firm dark-bluish skin nodules disseminated over the entire body. These skin lesions regressed spontaneously within one month. Pathology examination of a skin nodule showed lymphomonocyte proliferation. Immunostaining favored T cell infiltration without monoclonal proliferation. Medullar genome mapping showed evidence of a fragile site on the end of chromosome 20. At 8 months the child had normal development.
  
  
  CONCLUSIONS
  We attributed this blueberry muffin baby syndrome to T cell proliferation but we were unable to distinguish between extramedullary leukopoiesis and leukemia. Despite the absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in the case. The association of blueberry muffin baby syndrome with a polymalformative syndrome was probably related to a genetic anomaly on chromosome 20 not previously reported.
authors.affiliation: Service de Dermatologie, Clinique Notre-Dame, Charleroi.
authors.forename: C
authors.initials: C
authors.lastname: Zenon
authors.forename: B
authors.initials: B
authors.lastname: Bouffioux
authors.forename: J
authors.initials: J
authors.lastname: Louis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D002890:Chromosomes, Human, Pair 20; D003456:Cryptorchidism / Q000235:genetics / Q000473:pathology*; D006411:Hematopoiesis, Extramedullary / Q000235:genetics; D015614:Histiocytosis / Q000151:congenital; D006801:Humans; D007231:Infant, Newborn; D007948:Leukemia, Monocytic, Acute / Q000151:congenital; D008265:Macrostomia / Q000235:genetics / Q000473:pathology*; D008297:Male; D017689:Polydactyly / Q000235:genetics / Q000473:pathology*; D012075:Remission, Spontaneous; D017444:Skin Diseases, Papulosquamous / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D013577:Syndrome