Poikiloderma with neutropenia
Synopsis

PN is caused by loss-of-function mutations in the USB1 gene located on chromosome 16q21. USB1 is crucial for neutrophil maturation, as well as being expressed in skin keratinocytes. This genetic defect results in impaired neutrophil function, leading to chronic neutropenia and increased susceptibility to infections. Abnormalities in skin cell turnover and repair mechanisms may contribute to the development of skin ulceration.
Without appropriate management, the condition can lead to significant complications, such as bronchiectasis and chronic lung disease, over time. Additionally, the syndrome carries with it an increased risk for myelodysplastic syndrome, acute myelogenous leukemia, and squamous cell carcinoma.
Immunocompromised Patient Considerations: PN patients are inherently immunocompromised due to chronic neutropenia. They require vigilant monitoring for infections, prompt antibiotic treatment, and potentially prophylactic antibiotics to prevent severe infections. Vaccination and avoiding exposure to infectious agents are critical components of care.
Codes
D70.8 – Other neutropenia
D82.8 – Immunodeficiency associated with other specified major defects
SNOMEDCT:
772126000 – Poikiloderma with neutropenia
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Last Updated:09/02/2024