The Skin as an Early Expression of Malignancies in the Neonatal Age: A Review of the Literature and a Case Series
Table 2
Diagnostic tests in malignancies involving the skin, with differential diagnosis ( in addition to the different causes of blueberry muffin baby listed in Table 1; WBC: white blood cell; Hb: Haemoglobin; PLTs: platelets).
Neoplasia
Diagnostic tests
Differential diagnosis
Leukemia
(i) Blood cell count (WBC > 50000; low Hb and PLTs) (ii) Liver function tests (iii) Coagulation studies (iv) Blood film (v) Bone marrow aspirate with morphology, immunophenotype (FAB L1, L2, M4, M5, and M7), and karyotypes [t(4;11)(q21;q23); t(11;19)(q23;p13); t(9;11)(p21;q23); t(1;22)(p13;q13)] of blasts (vi) Skin biopsy
(i) Listeriosis (ii) Sepsis (iii) Intrauterine Parvovirus infection (iv) Congenital HIV (v) Diamond Blackfan anemia (vi) Extramedullary hematopoiesis (vii) Intrauterine or birth-related hypoxia (viii) Neonatal lupus erythematosus
TMD
(i) Blood cell count (WBC 100000–50000 or normal; normal or decreased Hb; and decreased PLTs) (ii) Liver function tests (increased bilirubin and/or transaminases) (iii) Coagulation studies (abnormal coagulation) (iv) Renal function tests (v) Abdominal ultrasound (vi) Echocardiography (vii) Chest X-ray (viii) Blood film (ix) Bone marrow aspirate with morphology, immunophenotype (FAB M7), and karyotypes (GATA 1) of blasts
(i) Nonspecific changes associated with intrauterine growth restriction and trisomies: neutropenia, thrombocytopenia, erythroblastosis, and polycythaemia (ii) Subtle myelodysplastic features: abnormal myeloid cell granulation, giant platelets
LCH
(i) Blood cell count (normal or decreased Hb, RBC, and/or PLTs) (ii) Liver function tests (iii) Coagulation studies (iv) Chest X-ray (v) Abdominal ultrasound (vi) Skin biopsy
(i) Blood cell count (possible anemia and cytopenias) (ii) Lactate dehydrogenase levels (iii) Ferritin (iv) Liver and renal function tests (v) Urine catecholamines (increased homovanillic and vanillylmandelic acid) (vi) Abdominal and cerebral ultrasound (vii) Chest X-ray (viii) If necessary, brain, neck, and chest MRI (ix) Skin biopsy with karyotypes (MYCN amplification) (x) Bone marrow aspirate
(i) Benign cutaneous epithelioid Schwannoma (ii) Ganglioneuroma (iii) Ganglioneuroblastoma
RT
(i) Urinalysis and renal function tests (ii) Abdominal ultrasound (iii) Chest X-ray (iv) Brain ultrasound (v) If necessary, brain MRI (vi) Skin biopsy with karyotypes (SWI/SNF at 22q11.2)
(i) Wilms’ tumor (ii) Medulloblastoma (iii) Sarcomas (iv) Hemangioma
RMS
(i) Blood cell count (normal or decreased PLTs, anemia) (ii) Liver function tests