Differential Diagnosis for 7-year-old Female with Bicytopenia, Fever, Aphthous Ulcer of Mouth, and Desquamation of Hands

• Single Most Likely Diagnosis
  • Juvenile Systemic Lupus Erythematosus (JSLE): This condition is a strong candidate due to the combination of bicytopenia (indicating hematologic involvement), fever, aphthous ulcers (common in SLE), and desquamation of hands, which could be related to the photosensitive rash often seen in lupus. JSLE can present with a wide range of symptoms, including mucocutaneous, hematologic, and systemic manifestations.
• Other Likely Diagnoses
  • Infectious Mononucleosis: Caused by Epstein-Barr virus (EBV), it can lead to fever, bicytopenia (especially lymphopenia or atypical lymphocytosis), and sometimes oral ulcers. However, desquamation of hands is less typical.
  • Autoimmune Lymphoproliferative Syndrome (ALPS): Characterized by chronic lymphadenopathy, splenomegaly, and cytopenias due to autoimmune destruction of cells. Aphthous ulcers and skin manifestations can occur, but they are less common.
  • Idiopathic Thrombocytopenic Purpura (ITP) with Infection: While ITP primarily causes thrombocytopenia, in the context of an infection, it could contribute to bicytopenia. Fever and oral ulcers could be part of an underlying infection.
• Do Not Miss Diagnoses
  • Aplastic Anemia: A potentially life-threatening condition characterized by bone marrow failure leading to bicytopenia or pancytopenia. Fever and mucosal ulcers can occur due to the lack of neutrophils and platelets. Early diagnosis is crucial for treatment.
  • Leukemia/Lymphoma: These malignancies can present with bicytopenia, fever, and oral ulcers. Desquamation could be a sign of a specific type of leukemia or lymphoma, such as acute lymphoblastic leukemia (ALL) with skin involvement.
  • Severe Combined Immunodeficiency (SCID): Although rare, SCID can present with recurrent infections (leading to fever), oral ulcers, and skin rashes, including desquamation. Bicytopenia can occur due to bone marrow involvement or infection.
• Rare Diagnoses
  • Ehlers-Danlos Syndrome with Associated Hematologic Abnormalities: Some types of Ehlers-Danlos syndrome can have associated hematologic manifestations, including bicytopenia, and might present with skin hyperextensibility and easy bruising, which could be mistaken for desquamation.
  • Graft-Versus-Host Disease (GVHD): In the context of a recent transplant, GVHD could explain the skin desquamation, oral ulcers, and bicytopenia. However, this would be highly dependent on the patient's medical history.
  • Pearson Syndrome: A rare mitochondrial disorder that can cause sideroblastic anemia (leading to bicytopenia), neutropenia, and thrombocytopenia, along with exocrine pancreatic dysfunction. Skin manifestations and oral ulcers can occur but are less commonly highlighted features.