Blueberry muffin baby (dermal erythropoiesis) with non-ketotic hyperglycinemia

Cutaneous extramedullary haematopoiesis: Implications in human disease and treatment

“…[3] While physiologic dermal haematopoiesis persists through month 5 of gestation, [39][40][41] patients born with a blueberry muffin rash demonstrate cutaneous HSCs that persist through postnatal weeks 3-6. [41] The mechanism by which HSCs populate the skin is unknown, but may involve re-activation or persistence of foetal haematopoiesis, possibly through impaired phagocytosis. [40] Morphologically, patients present with 2-8 mm non-blanching painless violaceous macules and papules with predilection for the head and neck ( Figure 1).…”

“…[39,49] Blueberry muffin rashes have also been associated with congenital disorders such as Aicardi-Goutieres syndrome [50] and congenital non-ketotic hyperglycinemia. [41] Often, the gestational insult is not identified, as in one study noting extensive tri-lineage haematopoiesis between haemangioma capillaries in diffuse neonatal haemangiomatosis. [51] CEMH has been observed in several adult diseases (Table 1), most notably primary idiopathic myelofibrosis, [52,53] of which there have been over 50 documented cases since the first description in 1937.…”

“…[58] Another patient presented with truncal papules followed by facial subcutaneous nodules. [59] [44] Idiopathic myelofibrosis [52,53] Haemolytic disorder [39,49] Polycythemia vera [67] ABO incompatibility [45] Essential thrombocytopenia [68] Rh incompatibility [48] Primary hypertrophic osteoarthropathy [69] Twin-twin transfusion [45] Chronic myelogenous leukaemia [73] Maternal anaemia [47] Pilomatricoma [70] Inborn errors of metabolism [41,45] diagnosed as tri-lineage CEMH have been reported. [60,61] One patient who underwent splenectomy developed bullae at the surgical scar that spread centrifugally within days to cover the abdomen, groin, chest and back.…”

Blueberry muffin baby with cytomegalovirus hepatitis

“…[1] The various causes for blueberry muffin syndrome are mentioned in Table 1. [1345] The exact cause of prolonged dermal erythropoiesis in blueberry muffin syndrome is unknown, but it is hypothesized that during normal embryologic development, extramedullary hematopoiesis occurs in a number of organs, including the dermis and this activity persists until the fifth month of gestation. [1] The presence of blueberry muffin lesions at birth represents postnatal expression of this normal fetal extramedullary hematopoiesis.…”

“…[1] Histopathology shows foci of dermal erythropoiesis along with aggregates of nucleated and non-nucleated erythrocyte precursors, but generally no cells of myeloid/megakaryocytic type. [4] A stepwise approach in a suspected case of blueberry muffin baby has been highlighted in Table 2. [1] Most cases usually manifest by birth, and a few cases may be reported few months later as was in our case.…”