- Patient Name: Amy L.
- Age: 35 years
- Consulting Specialist: Dermatologist
- Reason for Consultation: Recurrent vulvovaginal and anal dysplasia
- Relevant Signs & Symptoms: Cytopenia, HPV, warts
Medical and Family History
- Childhood HPV+ warts on the hands that cleared up in adolescence
- Cytopenia at age 15 years during EBV+ mononucleosis infection, with cytopenia persisting through adulthood
- Recurrent vulvovaginal and anal dysplasia and carcinoma in situ requiring multiple surgeries starting at age 20 years
- No history of infections besides HPV/EBV; no family history of warts, immunodeficiency, squamous cell carcinoma, or lymphoma
- Prior diagnosis: chronic cytopenia (negative for secondary causes of pancytopenia)
Medications
Test Results and Findings
Bone marrow biopsy (aged 35 yrs)
- Granulocyte precursors indicative of myelokathexis; bilobed neutrophils atypical of myelokathexis
Lab findings (aged 35 yrs)
- Low ANC and WBC counts
- Normal ALC and Ig levels
Genetic testing (aged 35 yrs)
- Identification of novel CXCR4 variant
Key Considerations
- This patient illustrates atypical heterogeneous disease presentation, with no history of infections besides HPV/EBV, recurrent HPV dysplasia, cytopenia, and no hypogammaglobulinemia.
- In patients with a similar clinical presentation suggestive of WHIM syndrome, consider genetic testing for CXCR4 variants to inform a diagnosis.
ALC=absolute lymphocyte count. ANC=absolute neutrophil count. EBV=Epstein-Barr virus. HPV=human papillomavirus. Ig=immunoglobulin. WBC=white blood cell.
Note: Hypothetical patient profiles are based on real case studies.
