Fanconi anemia in Infant/Neonate
Approximately 80% of individuals with the condition will have cutaneous manifestations. These include generalized hyperpigmentation, café-au-lait spots, and depigmented macules. Patients may also have hyperpigmentation secondary to iron overload from repeated blood transfusions. Skeletal abnormalities are very common, afflicting approximately 66% of affected patients. The most frequent of these are short stature, radial ray abnormalities, and scoliosis.
In addition, these patients are at increased risk of malignancy, most commonly nonlymphatic leukemia, with the increased risk of acute myeloid leukemia being as high as 15 000-fold. Other malignancies are observed with increased frequency, including head and neck squamous cell carcinomas, liver and brain tumors, esophageal carcinoma, and neuroepithelial tumors.
Patients typically die from infection, neoplasia, or hemorrhage. Immunodeficiency is not a prominent feature.
Note: Certain mutations in BRCA2 (also known as FANCD1) can cause a rare form of Fanconi anemia (subtype FA-D1) if inherited from both parents, and certain mutations in BRCA1 (also known as FANCS) can cause a different Fanconi anemia subtype if inherited from both parents.
D61.09 – Other constitutional aplastic anemia
30575002 – Fanconi's anemia
Differential Diagnosis & Pitfalls